What is McArdle’s Disease?

Update: June 7th, 2010

What is McArdle’s Disease?

McArdle’s Disease is a metabolic disease affecting skeletal muscle. It is also known as Type V glycogen storage disease.

An Overview of McArdle’s Disease

McArdle’s disease is a rare muscle disease affecting approximately 1 in 100,000 people. Because their muscles cannot properly metabolize energy, individuals with McArdle’s disease may experience fatigue and failure during strenuous activities like jogging, swimming or even walking. These episodes can result in painful cramping injuries that require medical attention. McArdle’s disease is an inherited condition, and is caused by a missing or non-functioning enzyme needed to make glucose for energy. While this condition imposes significant physical limitations, it is not directly life-threatening and with the proper precautions and lifestyle management, people who have McArdle’s Disease can live healthy, active lives.

About This Website

This website, mcardlesdisease.org, has been created to increase awareness of this rare condition. This site contains two types of content: general information and links about McArdle’s disease, and McArdle’s disease blog articles from individuals with the disease describing subjective experiences with the condition.

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  1. Shelly
    June 14th, 2012 at 15:06
    Reply | Quote | #1

    My 13 year old nephew was just diagnosed with this, he is a star athlete and was told he may have to quit sports. I know there are so many things out there that are worse than this but it is heart wrenching to know he has to give up his passions. I believe he is in the beginning of this disease, any words of advise or tips would be greatly appreciated. Thanks in advance

  2. hala
    June 10th, 2012 at 20:58
    Reply | Quote | #2

    @Tammy

    Tammy,
    I searched for McArdle’s group on FB and found it to be a construction company in the UK. can you post a direct link to the group?

  3. Tammy
    June 5th, 2012 at 16:16
    Reply | Quote | #3

    @Matthew
    Matthew if you have a face book account do a search for McArdle’s group. I just found them and it’s all people like us who suffer with McArdle’s! Hope to see you there!

  4. jessie
    May 30th, 2012 at 21:03
    Reply | Quote | #4

    @Erin
    I have Mc ardles disease since I was 18. I still continue to run, but have always had stomach problems. I had my gallbladder taken out almost a year ago and that has seemed to help me a little bit.. but i have to be picky of when i eat and what i eat. I have had a stent put in my kidney when i was 18 and have had multiple surgeries… I am wondering if any one has found anything that helps before or after excersing?

  5. Matthew
    May 5th, 2012 at 00:30
    Reply | Quote | #5

    Hello my name is Matt I am 42 years old male and have never met someone with McArdles. I would like meet someone who shares with me this same condition. Really just to have conversation with someone who understands.I never knew what was wrong until I was 28 years of age.Hope to hear from you. Thanks Matt

  6. Jim Ottesen
    April 30th, 2012 at 02:29
    Reply | Quote | #6

    @Erin
    Erin,
    Have you been tested for diabetes, allergy to gluten or others?
    What does your ck run and are there any “highs” in you complete
    blood chemical profile and urine tests? What is your job and what
    stress risks do you take. Have you been diagnosed as having McArdle’s, when, where and by what means? “Excess” fun with McArdle’s can be very serious, or fatal. Be careful. Jim

  7. Nicole
    April 24th, 2012 at 04:06
    Reply | Quote | #7

    Mia :
    I am curious if any other McArdle’s people have stomach/digestion problems? I know that they say that McArdle’s only effects the skeletal muscles, but after having had several conversations with other McArdle’s people I have found a common theme in stomach issues; pain after eating, a feeling of having ate something “heavy” like lead after eating even a small meal, stomach pain when standing for periods of time, I am beginning to wonder if it is ONLY the skeletal muscles. Any one here having similar problems? Also, does eating chocolate (or sugar, for me it’s m&m’s) help with the stomach pain? I am curious if there is a secondary problem involving the stomach. I have had upper G.I’s done with no bad results.
    Thanks,
    -Mia-

    I actually have always as long as I can remember have had terrible stomach issues!! I am going next week to get my gallbladder out and a procedure where they wrap the stomach around the esophagus…I have a Hiatal Hernia acid reflux and gurd…all bad issues…hoping the surgury helps…my email is nickkiwick@yahoo.com if anyone would like to ask questions please put mcardles in the subject line. I have dealt with many issues. I’ve had 4 children one at home with a mid-wife, I work full time and I exersize…

  8. Erin
    May 10th, 2011 at 02:45
    Reply | Quote | #8
  9. growth hormone
    April 26th, 2011 at 19:32
    Reply | Quote | #9

    What a terrible disease.

    @June It’s sad to see doctors treat you like that, it’s not like you’re going to the doctor just for fun.

    Sad to see this disease hit the young so hard.

  10. Nicole
    April 26th, 2011 at 04:47

    @Jan Weekley make sure he does not run and cramp those muscles it’s very unfortunate, but he can’t play sports like this unless it’s just for the fun of it and he is able to rest between bases. I know I am 39 and was born with McArdle’s. Sad thing is I also have the ‘athletic’ type of muscle tissue, but am not able to utilize it in the way I would like to. I work full time and have four kids two of which are 5 and 2yrs. I have been hospitalized about 6 x for rhabdomylosis. One count of my cpk got very high I almost died. My urine was the color of pepsi and I was preg with my third baby. Good thing I got aggressive treatment, but it’s not worth him playing sports if it’s gonna jeapordize his health.

  11. Reena
    April 17th, 2011 at 16:19

    I’m Reena and was diagnosed with McArdle’s disease when I turned 24. I just woke up not being able to move. It freaked me out. My feet were swelling and I had to take some medicines. At first, I didn’t accept it. Now, I managed to cope up with the disease. It isn’t that bad.

  12. adam
    April 17th, 2011 at 05:26

    My name is adam and I was diagnosed about 3 years ago. I am now 24. I have nevered talked to anyone else with mcardles and I would like too. My email address is adam_scruggs@hotmail.com. some one shoot me a message sometime I would love to talk.

  13. beryl desmond
    April 3rd, 2011 at 13:58

    I was diagnosed by exercise.
    There is no other 100% way of doing it. I was made to cycle on an exercise bike at two minute intervals I was blood tested, at 6 mins I fell off in a tetanic spasm, I was ill and sick for days.
    I have had countless biopsies, bits of my muscle has been sent all over the world, the nuleus in the cells was on the outside instead of inside and the cells had become elongated not roundish.
    That was in 1979 England.
    In 2005 I was blood tested and a biopsy taken which showed within normal limits, I think this was because I had learned to pace myself, also there was no exercise test involved.
    I know I have macardles I have proof of this, but some doctors just do not know what to look for.
    I am fortunate it is not the lipids enzyme I am deficient in but I am 60 % deficient in phosphorylase. sorry if this is not spelt right.
    A good way to describe it is this.
    A METABOLIC ABNORMALITY OF THE MITOCHONDRIA.
    Yes it is geting worse as I get older, who knows where it leads?

  14. beryl desmond
    April 3rd, 2011 at 13:38

    I was diagnosed at the age of 31 with macardles, I had, had four children by then, however it was not having the children that was difficult (all born naturally) it was the tiring situation of being a mother, I was so tired I was suicidal.
    I have suffered kidney failure just once, whilst looking after my children, it is doing the day to day living, looking after children that is the worst part, sometimes I was in such pain and so tired I could not give my best.
    This is what drove me to finding out what was wrong with me.
    I am now 65, I have terrible leg pains and bad ciculation, is this also a symptom, constant cramp in legs and feet.

  15. Christy
    March 9th, 2011 at 01:34

    I remember walking to school when I was young…i would force myself to walk until my leg muscles would cramp up, I would get faint and sometimes even get sick. By the time I got to school I had cooled down and just tolerated the stiff muscles. I watched others in my family go through the same thing. In highschool the teacher treated me like I was lazy and got to the point that she sent me out to the track before the others so I could get done before the end of class. Symptoms: Muscles tightened or ‘hardened’ to the point I couldn’t lift my leg or arm or stand up. After the stiffness started to subside I would try to ‘walk it off’ or slowly work the area to loosen it up. The muscle would be sore for days but motrin or pain killer made it a little better! The best way to diagnose and monitor the disease is with CPK blood tests. @Chris

  16. Christy
    March 9th, 2011 at 01:17

    @Alex
    5 of 9 kids in my family have McArdles. I am the second oldest and I am now 48. McArdles is painful,no doubt! Here are some things that have helped me: Stay active. Get on an easy exersize program and work your way up. Keep your body weight balanced. If I know I am going to walk a distance I try to raise my sugar levels with a diet soda or even a candy bar. i know that doesn’t sound healthy but it keeps me from cramping up so fast. Don’t carry backpacks on your back! Use a pullcart anytime you can. Stop and rest often to give your body time to find some energy. Have your blood checked often so you don’t do other damage to your body with high enzyme levels. A healthy lifestyle really does help. It will never go away but it makes less bad days. Hang in there!

  17. Christy
    March 9th, 2011 at 01:02

    @Pam
    Yes you can have babies with McArdle’s! I did not know I had McArdle’s until I was in my teens. I had 3 babies in my early 20s. The first one was by natural delivery, the second one was by C section and the third one I went through all the labor and ended with another C section due to baby complications. Yes it was exhausting during the labor but the labor did the work. Do what your doctor reccommends but I will tell you that you can do it! Now, if we talk about walking a city block, that is a struggle!

  18. John
    March 6th, 2011 at 18:00

    I have also been diagnosed with McArdle’s disease. I have a question though. I didn’t find out what was wrong with me, or why I felt so much different than anyone else until I had already gotten a bachelors in a field that requires the use of my muscles. When I was younger and working on my bachelors my problems didn’t manifest themselves as much as they have now that I’m older. I was unable to perform at my job, so I was let go (before I knew what was wrong with me) I now bounce from job to job that requires manual labor. I can’t find any desk jobs, and I was wondering if anyone knew if it is common for people with McArdle’s disease to go on unemployment in the US. I’ve tried to find jobs where I didn’t have to lift things for 3 years now, and I’m so depressed that I keep getting minimum wage jobs, and I keep tearing my muscles trying to lift things I should be able to lift. If anyone has any kind of supportive comments or answers, please e-mail me, simmonstrumpet@gmail.com Thanks in advance.

  19. roy
    March 4th, 2011 at 21:59

    I was diagnosed with McArdle’s disease in 1979 after a near drowning at age 24. (My parents remember me always complianing about walking and being tired at age 5 and beyond.) However since then I have been doing my own research because doctors seem to know little about what my issues are. now having read about McArdle’s and Tauri’s disease, I’m pretty sure my ailment is Tauri’s. However, many of my symptoms go towards both names. I tire easily, but get a second wind in just a few minutes. My muscles ache often from exercise and I’ve weakened over the years. I used to be a firefighter and could carry 150 pounds up several flights of stairs, now I can barely get up over a curb. I was in renal failure, had my share of EMG’s, and a biopsy which was totally necrotic at the time – 1979. Doctors seem to be unable to help and yet MDA doesn’t seem to have any research programs going either. Exercise aggravates the condition.

  20. Sharon
    February 15th, 2011 at 14:24

    I never felt better than when I was pregnant. Don't know what it was but it was a terrific experience. I had natural childbirth with no problems AT ALL.

  21. Vic T
    February 11th, 2011 at 22:08

    Hi 17 years old
    and yes i was diagnosed with McArdle's disease syndrome as well when i was 7. i was wondering if anyone could answer this question. Is it safe for a me to even take protein supplements and doing work outs. I want to try to build some muscle mass. but i dont want to damage my muscles for the future. can anyone give me advice??

  22. penny bayley
    February 9th, 2011 at 18:46

    Hi Rachel,

    I have McArdles disease and have had 2 natural child births. My send baby weighed 11lbs! Everything was fine. Hope it goes well.
    Penny

  23. Daniel Hoy
    February 7th, 2011 at 21:42

    Hello everyone, my name is Daniel Hoy and I too have McArdle's Disease. I was diagnosed in 1998 and I also have an older brother who has McArdle's as well. My parents have five children and my brother and I were the only ones to get McArdle's, which is great because I wouldn't wish this disease on anyone. I'm always trying to find out if there are any new treatments or secrets on how to cope or maintain better with my McArdle's. Unfortunately I always find the same info, THERE IS NO TREATMENT!!! I have found a doctor who is willing to really look into our disorder and try to help.

  24. Mia
    February 6th, 2011 at 18:00

    I am curious if any other McArdle's people have stomach/digestion problems? I know that they say that McArdle's only effects the skeletal muscles, but after having had several conversations with other McArdle's people I have found a common theme in stomach issues; pain after eating, a feeling of having ate something "heavy" like lead after eating even a small meal, stomach pain when standing for periods of time, I am beginning to wonder if it is ONLY the skeletal muscles. Any one here having similar problems? Also, does eating chocolate (or sugar, for me it's m&m's) help with the stomach pain? I am curious if there is a secondary problem involving the stomach. I have had upper G.I's done with no bad results.
    Thanks,
    -Mia-

  25. Mia
    February 6th, 2011 at 17:50

    Rachel,

    I had a C-section. It was fantastic! It wasn't nearly as scary as I thought it was going to be. In fact, I made it into a bigger deal than it was. I have fairly severe McArdle's, I can't even make it across the parking lot of a grocery store without having to stop many times. I didn't want to risk the types of muscle contractions and potential complications with a natural birth. The night before my C-section I had severe pre-labor pains and I know that had I tried natural birth there would have been problems. The contractions where absolutely terrible and made even worse by the McArdle's. After the contractions stopped my muscles were still cramped up from them. It was an excruciating experience. I have spoken to other mothers with GSD V who went through natural birth before they knew that they had GSD V and regretted not knowing and being able to opt for a C-section.

    I now highly recommend a C-section. I really wanted, at the start, to do natural birth but I had to just come to accept that I'm not like other women, and I didn't want not to be able to take care of my daughter because I went into kidney failure or because my muscles had been damaged by natural birth. My daughter came out healthy, pink, and screaming. I don't regret having a c-section at all. My daughter is now 14 months old. If you really want to be a stickler for something, breastfeed your baby, even though it can be tremendously difficult!

  26. Anne-Maria Reinders
    February 6th, 2011 at 12:52

    Hallo Anne-Maria,
    Ik ben 2 keer zwanger geweest en heb nu 2 dochters van 14 en 16 jaar.
    De eerste zwangerschap heb ik in het ziekenhuis gelegen vanwege groeiachterstand van baby en keizersnede bevalling gehad.
    De tweede dochter had ook groeiachterstand en ik ben met pillen naar huis gegaan en heb thuis veel gerust.
    Maar dit keer was het een normale bevalling.
    De oudste dochter woog 1900 gram en de jongste dochter woog 2400 gram.
    Dus blijf goed onder controle.
    succes
    groeten Anne-Maria Reinders Nederland

  27. ray
    January 28th, 2011 at 03:52

    Hi pam i too have the smae symptoms but also have not heard of this disease until I did some research. he doc thinks I have lupus but im not so sure. Also all of my work ups blood etc,, scans and mri's have deemed normal,, which is really strange to me. I take pred and plaquneil which seems to help me during the day..

  28. christi
    January 18th, 2011 at 16:13

    Rachel, I have had to vaginal deliveries. The first I had an epidural, and I was great, I felt like myself right after the delivery. However, with my second she came so quickly that I didn't have time for an epidural and subsequently it was natural. Delivery was horrible, too taxing for me physcically. My CPK continued to rise for several days. I couln't hardly walk due to the exertion in my legs. The difficult thing is, all deliveries are different. I recently read that it wasn't good for someone with McArdles to have a C-section. Good luck in your decision.
    Christi

  29. Rachel
    November 9th, 2010 at 18:40

    Hello,

    I was diagnosed with McArdle's at 21 and I have gone through kidney failure at 17 and a fasciotomy on my left forearm at 22. I am now 25 in my 2nd trimester of my 1st pregnancy and I am bombarded by the opinions of my family that I shouldn't go through natural childbirth and a C-section would be safer. I on the other hand disagree. I would love to hear from some mother's who have been in my same situation and prefer some successful stories of natural childbirth!!

    Thank you,
    Rachel

  30. Pam
    October 16th, 2010 at 00:02

    I am 69 years old with McArdles disease. I have been extremely tired, nauseous, and headaches for 6 weeks, along with a general feeling of weakness. The doctor has taken many blood tests and says everything looks good but admits he knows nothing about McArdles disease. Has anyone ever experienced similar symptoms?

  31. Anne S.
    October 9th, 2010 at 02:39

    Hi – Just in case your not better yet, I'm sharing some of my McArdle's survival tips with you.
    Because I am too stuborn to give up sports, I've discovered a few tricks to help with injuries. Unfortunately it takes a great deal more time, effort, dedication & money to heal for a McArdle's person than for a normal person. 1) you must be diligent in drinking lots of water, everyday. 2) deep tissue massage gets ride of all the toxins that have built up in the skeletal muscles. Those toxins are a result of enzymes, damaged tissue and other muscle energy byproducts. Try to find a massage therapist who does deep tissue & acupressure. It may be a painful massage, but well worth it. 3) stretch EVERY DAY (just after a hot shower or bath is best). Slowly and gently go into each stretch and hold for 30 seconds & slowly release. Any less than 30 seconds will not give any lasting affect. Do them laying on your back, or supported in a doorway. You must gently work thru the pain if you want to improve. 4) Add as much fresh fruits, vegetables, and juice as you can stand to your diet and reduce soda, candy, and chips. Wishing you well!
    Anne S.

  32. Alex
    August 31st, 2010 at 05:01

    Hello Alex i was diagnosed with Mcardles at age 19 in 2007. I first posted here almost 3 years ago. I went to the hospital with extremely high CPK levels was hospitalized for 2 weeks and had to do dialysis for about 2 weeks. They did a muscle biopsy and diagnosed me with this. I always new growing up their was something wrong. My muscles would rip so easily just walking up stairs or holding light weights for a couple seconds. I feel the worst in my upper neck and back and i feel like nothing works. Even sitting in a chair is horrible for me I think because your body uses muscles to hold your back and neck up-right. Mcardles is driving me insane. I see some posts on here of questions people have that i cannot answer. Mcardles doesnt spread. If you were diagnosed with Mcardles you knew something was wrong your whole life, you cant think you have it cause you would KNOW something is wrong. If i hold a weight in a bicep curl position for a couple seconds my bicep will be ripped and my arm will be stuck in a L position for the day. A couple sit-ups like back in high school would leave me hunched over for the rest of the day because of ripped abdominal muscles. Even if someone gets me laughing too hard stomach muscles rip. My leg muscles are also a problem walking up steps. Thinking I could have it worse is what gets me threw the day. Most of these examples ive learned to deal with, but I cannot stand the pain in my neck and upper back anymore. The worse thing about it is not being able to sit in a chair. The only time I can enjoy my body not hurting as bad is laying down but I work full time and go to school full time. Siting threw school is 10X harder to concentrate when I constantly have to massage my neck muscles. When i am massaging my neck muscles my forearm muscles will rip, sometimes writing with a pencil will cause my forearm to rip. SO if you think you have Mcardles I would say you dont because you would definentaly know their is something wrong. I have a couple questions on what the newest treatment plans are. I haven't had time to check in with a doctor but i do get my labs checked alot to see where my levels are at. I was prescribed flexeril and darvocets 100s which i do not take either of them because they don't help. What seems to help you? Also whats alanine about?

  33. Alex
    August 31st, 2010 at 04:48

    Hello im Alex i was diagnosed with Mcardles at age 19 in 2007. I first posted here almost 3years ago. I went to the hospital with extremely high CPK levels was hospitalized for 2 weeks and had to do dialysis for about 2 weeks. They did a muscle biopsy and diagnosed me with this. I always new growing up their was something wrong. My muscles would rip so easily just walking up stairs or holding light weights for a couple seconds. I feel the worst in my upper neck and back and i feel like nothing works. Even sitting in a chair is horrible for me I think because your body uses muscles to hold your back and neck up-right. Mcardles is driving me insane. I see some posts on here of questions people have that i cannot answer. Mcardles doesnt spread. If you were diagnosed with Mcardles you knew something was wrong your whole life, you cant think you have it cause you would KNOW something is wrong. If i hold a weight in a bicep curl position for a couple seconds my bicep will be ripped and my arm will be stuck in a L position for the day. A couple sit-ups like back in high school would leave me hunched over for the rest of the day because of ripped abdominal muscles. Even if someone gets me laughing too hard stomach muscles rip. My leg muscles are also a problem walking up steps. Thinking I could have it worse is what gets me threw the day. Most of these examples ive learned to deal with, but I cannot stand the pain in my neck and upper back anymore. The worse thing about it is not being able to sit in a chair. The only time I can enjoy my body not hurting as bad is laying down but I work full time and go to school full time. Siting threw school is 10X harder to concentrate when I constantly have to massage my neck muscles. When i am massaging my neck muscles my forearm muscles will rip, sometimes writing with a pencil will cause my forearm to rip. SO if you think you have Mcardles I would say you dont because you would definentaly know their is something wrong. I have a couple questions on what the newest treatment plans are. I haven't had time to check in with a doctor but i do get my labs checked alot to see where my levels are at. I was prescribed flexeril and darvocets 100s which i do not take either of them because they don't help. What seems to help you?

  34. Chris
    August 28th, 2010 at 04:35

    I am a New Zealander still struggling to figure out what I have. Originally diagnosed with Ankylosing Spondylitis, I then went on to the one of fibromyalgia. Now, something else has decided to appear – but then I think I always had it….I mean that I cheered when I ‘won’ a race at school. I was second to last! I have had high liver emzymes but not as high as many here assuming the tests are the same. I am about to test again. I experience attacks if I throw myself into something strenuous and cramp up badly for days.

    I have had the coloured urine, but not so severe. But to be honest I was really was not looking for it – you don’t do you.

    The Ankylosing Spondylitis was ‘resolved’ by not eating starch. I consider the fibro an indication of a metabolic disease but – which one. I worked my way through my illness in my typical stubborn style….

    I took magnesium [has B6, and Manganese with it] for the cramps, niacinamide and MSM for the cramps too and they work. However, as things slowly deteriorated in other ways [looks like late onset] I added fish oil.

    A breakthrough has come with an understanding that 2 x carnitine 500mg and vitamin B6 might work. I had big B6 deficiency symptoms.

    The carnitine fixed the insomnia and I could relax. However, I do have to eat sweet things at regular intervals and watch the exercise levels. I am tired of complaining to the Doctor – so I am reluctant to go. He is learning from me I think!!! I have always had the ‘second wind’. It is the getting out of the chair bit that got me, until I took the B6. The constant mild excercise is essential and a bit hard to keep up, without motivation.

    I will say so far that the assumption that it is McArdles, is proving fortuous, , as I am better now than I have been in years. No stamina – but better.

  35. Jeanne (Jan)
    July 31st, 2010 at 10:24

    Hi my name is Jan, I'm 54 and was diagnosed with McArdles in 1976 via a muscle biopsy. I often have a quick dip into this site to see the comments posted by other sufferers and to pick up any tips which I might find useful. I'm amazed by is how many of you out there can actually undertake propper exercise such as riding a bike, those days are gone for me now having attempted a ride with my son and suffering an acute contracture in my right thigh , thankfully not too far away from home and managed with great difficulty and assistance to get back to my house…I feel vunerable within my own home as I ended up in A + E in Feb because i had bent down in the kitchen to mop up a spill and both legs totally seized up, i was in agony and to top it off myogloinuria occured..I reckon my inability to exercise the way many of you can could be to do with the fact that i've aged, I used to be able to to a lot more, dont get me wrong, lifes good and as far as possible i manage this condition well, but it is a sneeaky one, you dont know you've done too much until it's too late..am I right???!!!!

  36. Mario Teles
    July 13th, 2010 at 04:53

    I agree. I am so lucky that in 1995 my doctor fought for 6 months to diagnose me. Before that I went to a different doctor and he told me that all I was looking for was some time off work. This site has helped me understand my illness more and know tha I am not alone.

    Thank you everyone.
    Mario

  37. submarine
    July 8th, 2010 at 14:27

    ohh..? m really really worry about th?s disease bcos one of my relative has this disease mcArdle..and ? wanna ask a quest?on,bcos we have just learned that he had involved ?n the l?st of those mcArdle diseases..the queest?on ?s th?s:DOES THE person who has with th?s mcArdle diesease accept as a handicapped or not?and the second quest?on ?s that: WHAT is the ratio of handicap of this disease mcArdle??what is the procedures?thank you.?f you know these answers please send me shortly ..

  38. Mario Teles
    July 6th, 2010 at 05:00

    Hi Jim. I see Dr. Layzer at UCSF in California. He is the one that diagnosed me in 1995 and I have been seeing him on a regular basis since January of this year. I had a Kidney transplant in 2007 and after that they noticed that my CPK was getting very elivated to close to 10,000. At this time I am doing paperwork to be permanently disabled do to all of my heal issues and the risk of going into kidney failure again.

    Agre you familiar with this doctor??

    Mario
    California

  39. Mario Teles
    July 6th, 2010 at 04:39

    Hi Lynda. My name is Mario and I was diagnosed with Mcardlesdisease in 1995. I am 44 years old and I also had a kidney transplant in February of 2007. Your symptoms really sound like you have the decease. You need to see a neurologist and have a muscle biopsy. You should get your CPK checked. My CPK sometimes gets to almost 10,000 and my doctor is very concerned about it damaging my new kidney. Reading your posting sounds like all of what I feel. At this time I am filing for permanent disability as my doctor does not want me to do any work. It is a really hard thing to go through but right now there is so much more information than when I was diagnosed. Doctors are more aware of this decease and more patients are able to get diagnosed faster. In 1995 it took my doctor 6 months to diagnose me but he did he would not leave it alone until he could figure it out.

    Good luck in everything.

    Mario
    California

  40. Sandra
    June 20th, 2010 at 12:14

    Hello, i'm a portuguese woman of 24 years old and my dignosis for mcardle disease occurred this week.
    Is not a surprise, for me disease finaly have a name.
    But i have one question as will be the future?

    Ps.: sorry for my english.

  41. Jim Ottesen
    June 6th, 2010 at 18:04

    @Jim Ottesen
    Hi folks,

    Well, the Walk Over Wales effort is now officially underway!!!!
    As I mentioned earlier, this worldwide “Walk” is designed to
    help all McArdle’s patients by obtaining contributions to produce
    DVDs for all of those who are afflicted with our disease. It is
    also to create awareness and sensitivity about a nationwide problem
    of ignorance in our medical community and the general public. I
    encourage each of us to do all we can to spread the word of this effort and
    to let others know how they can help. Just visit the website which is
    http://www.agsd.org.uk. Open your screen to “full page,” and look for the
    TURTLE on the right corner.

    Please do what you can. Many of our people need all the help they can get.

    Thanks for listening.

    Jim

    “Mysterious Disease”

  42. Lori Griggs
    June 6th, 2010 at 03:09

    My son has all the symptoms of McArdle's. His neurologist was so sure, he didn't want to do a biopsy, but I insisted. He just called back and told me he didn't have it. Can someone tell me exactly what they should or should not be looking for in the biopsy? One thing he told us was that he did not have glycogen build up…could you still have McArdle's and not have a build up. Can someone help me so that I know what questions to ask our doctor? Thank you so much!!!

  43. Mrs Ross
    May 25th, 2010 at 06:12

    My husband has been mis-diagnosed several times, now they want to test him for McArdle's. All his illness started after taking Lipitor…. His old doctor called this morning to tell him to request testing for McArdle's. He has severe muscle issue'e both pain and myopithy(sp?)he also was diagnosed with Crone's all this in his early forty's. He walks like an old man and is now having trouble swallowing he is only 48! He had a biopsy done early on and the biopsy said that he had a rare enzyme but no I addressed it and said he had miostisis then fiber mialgia. Once he was diagnosed with the last no one will see him as there is no cure. Fiber mialgia has become a blanket term to cover any and all muscle pain. What we need is a correct diagnosis and treatment!!!!

  44. Anne
    May 24th, 2010 at 06:48

    Thank you Jim for replying.@Jim Ottesen

  45. Jim Ottesen
    May 22nd, 2010 at 02:36

    @Anne
    Anne,
    Like you, I recently had a bad accident, but mine was in the form of a
    fall. It is not likely your McArdles’s is expanding. “M’s” attack is
    limited mostly to skeletal muscles. However, if you fail to get the right amount of exercise, atrophy can occur and exacerbate your pain.
    If you try anaerobic instead of aerobic exercise, you destroy muscle,
    suffer more pain and expose yourself to the risk of kidney failure.
    For you. I feel the cortisone shots make a lot of sense. However, to
    fully recover, I suggest a physical therapist and a personal trainer
    to properly re-build your body for now and for the future.

    Good luck to you!

    Jim

  46. Site Admin
    May 21st, 2010 at 02:47

    We’ve added a forum to the site to better support discussions. Everyone is encouraged to make use of the forum as a means to expand and add momentum to the dialog about McArdle’s disease. We will soon close comments on this page in order to minimize loading time, so please feel free to get the ball rolling in the forum. Thanks to everyone who has taken the time to visit the site and say hi.

  47. Jim Ottesen
    May 21st, 2010 at 00:10

    @Jim Ottesen
    Shirley,

    Thanks for your comments. As I just wrote to Adrienne, the lack of knowledge by the medical industry about McArdle’s Disease is pathetic.

    I hope the “Walk Over Wales” will awaken the world about our disease
    and create more interest, understanding and intelligence. The idea of a CD on the subject is wonderful. Maybe one could be mailed to each of
    those doctors who guess, dismiss or say “it’s a neurological problem”
    and then change the subject.

    Your interest and efforts can help uncover ignorance about our disease
    and help many folks (like me and others) who suffered for years without
    hope and a diagnosis.

    Keep the world aware – help is on the way!

    Jim

  48. Anne
    May 18th, 2010 at 09:36

    Hi I was diagnosed with McArdle’s 33 years ago but was not told anything about it. Last year when I was refered to a neurologist it felt like I was just diagnosed. I feel very confused and trying to understand what it is all about. This website has been very informative.Can anyone give me any advice on how to accept/deal with the limitations while still trying to work. I was in a motor vehicle accident receiving whiplash and soft tissue injuries to the neck, shoulders, back. Recently I have experienced a very painful total back spasm that I couldn’t move. Can anyone tell me how do you tell if it is McArdle’s spreading or its just a muscle injury? With Mac do the muscles ever repair? I am at the stage of being in pain 24/7 and can no longer push through the pain. I have been seeing a Muscular Skeletal specialist and he has been given me cortisone injections in the back of the head, shoulders,back & hips. Has anyone had any feedback on this treatment or should we even have it? I would like to be a good advocate for myself in asking the right questions at the Drs visits. If anyone could help with what questions to ask please respond. Please help in any way possible as I am trying to understand and accept something that I cannot change or like.

  49. Anne
    May 18th, 2010 at 09:19

    Hello Allie my name is Anne and I too have tummy problems last year I went to a dietician & he found I had a fructose malabsorption. Since giving the diet a go I feel so much better. I now need to eat low carbs, good protein,Gluten, wheat,lactose & fruit free this even includes a lot of vegetables. I hope this helps. It is well worth considering even if you can find a good dietician/nutricionist to help you. There is a dietician on the net who is a coeliac & did her masters in Fructose malabsorption Sue Shepherd (writes recipe books).Good luck.@Allie T

  50. Stacey Reason
    May 17th, 2010 at 18:14

    Great idea…
    @Site Admin

  51. Site Admin
    May 16th, 2010 at 21:20

    FYI – I’ve flipped around the sorting order of the comments here, so newest will appear at the top of the page and you don’t have to scroll for five minutes. :) Working on some improvements to facilitate discussion on this site, thanks for visiting.

  52. Shirley
    May 14th, 2010 at 18:24

    @Jim Ottesen
    Great taht someone is getting the “Walk Over Wales” activity together. I have found so many people who do not know what McArdle’s disease is and how it effects everyone differently. My twin and are have been diagnosed per muscle bx.. Just the two of us have varied symptoms. We have physically demanding jobs. I am a surgical nurse and spoke to quite a few physicians about this disease so they can quit making comments about “it’s stress related” or it’s all in their minds………….. I am outspoken and feel everyone should get out there and educate others what we are living with. I am glad this website is here!!!

  53. Jim Ottesen
    May 13th, 2010 at 02:01

    To All McArdle’s Patients:

    A leader of the McArdle’s informational network in England, Andrew
    Wakelin, has initiated a personal walk called “Walk Over Wales” to raise
    money to produce a DVD for people with McArdle’s Disease. The walk is over 200 miles by a man who has McArdle’s himself. We expect he will be joined by many around the world in spirit and in fact. As this walk
    unfolds, many McArdle’s folks in Endland, the United States and the world will want to do their own walks, offer donations and
    support this effort to unleash the facts of our disease via the DVD and help inform those around the world to better understand how this neuromuscular disease impacts McArdle’s Disease patients around the world.

    Please stay tuned! I will keep you informed. In the meantime, please start to let all “M” folks know of this huge effort and consider if
    you might want to participate.

    God bless all of you!

    Jim

  54. Diane
    May 12th, 2010 at 17:20

    Jim and Allie..

    Allie, please let us know what is going on with you and what the doctors find. You may have more than one issue going on, who knows? It is most frustrating, I know, and I know Jim does too.

    Jim, thanks for the suggestion on the hemastix. My most recent
    CPK test was just at 500..that was last month. I was most pleased, but then I have not been exerising due to several issues with my back, knees, etc. Hopefully, I can get these straightend out and begin an exercise program again…I know the hemastix will be really helpful then!!!

    God Bless you both, and I look forward to hearing of your results, Allie.

    Diane

  55. Steph
    May 8th, 2010 at 06:41

    Hey all – have any of you noticed muscles twitching after exercise? I often find after a walk that my quad muscles twitch/have fairly rapid spasms right afterward. It doesn’t really hurt but it is a concern.

    Cheers.
    Steph

  56. john honecker
    May 6th, 2010 at 19:34

    i have been reading for a year gives me hope

  57. Jim Ottesen
    May 6th, 2010 at 13:56

    @Diane
    Diane,

    In view of the digestive upsets you and your brother experience,
    I urge you to consider the use of Hemastix to self-test your
    urine to determine how toxic your myoglobin is at the time you
    have the problem. This will also tell you if you CPK is running
    too high so you can be sure your kidneys are protected. You can
    get a supply from your doctor via a prescription.

    God bless,

    Jim

  58. Jim Ottesen
    May 6th, 2010 at 00:46

    @Jim Ottesen
    Allie,

    Just staying in touch. Please let us know if you hear anything as
    to testing or confirmatin of McArdle’s Disease. I pray for the day
    when we have the cure for “M” and I just want you to be in line if we
    find that you have the disease. If not, we’ll just thank the Lord.

    Have a great month!
    Jim

  59. Allie T
    May 4th, 2010 at 11:04

    Jim and Diane, thank you so much for your input.. I really appreciate it. I have been doing as much research as I can but it is hard since different people have different symptoms in the same disease. I have mostly been focusing on metabolic muscle diseases since they sound so much more like what I experience than anything else. I will be sure to use all the info you have given me to make sure I ask the right questions when I go see a specialist. I also pushed my primary doc to do more CPK tests periodically until I am able to go see someone else so I have a better idea what is triggering my levels to go high. During my research I also found Carnitine Palmityl Transferase Deficiency, which sounds a little more like what I go through than McArdle’s in the way that it comes and goes and in between attacks you are perfectly fine, and can be triggered by stress, illness, or even menstruation. But all of this is just guessing I suppose until I get further testing, but at least I can ask to be test for these things along with whatever they want to check for. Thank you again for the help! ~Allie

  60. Erin
    May 3rd, 2010 at 01:57

    I am 24 and was diagnosed with mcardles at age 17. Can someone please help me understand the symptom difference between muscle swelling from mcardles and compartment syndrome? I’ve been in a lot of pain, more than the avg mcardles “episode”. Taking ibuprofen (not helping as usual) and icing off and on for 24 hrs which has helped to numb the pain temporarily. Throughout last night I was basically inside out due to the pain, I’ve had kidney stones before and categorize these two severities as one in the same. This morning it did get a little better, swelling went down a little, but I still can’t put any pressure on it and its still throbbing. I’d appreciate any advice, thank you SO much.

  61. Lynda
    May 2nd, 2010 at 20:20

    I do not have a diagnosis of McArdles, but the more I read, the more I think this (or a similar metabolic disorder) may be what is wrong with me. I am 49 years old. I have been to lots of different doctors through the years, trying to get an answer to my episodes of extreme fatigue and muscle weakness (muscles tighten up and won’t move). Most of these episodes last only a couple hours or a couple days, maybe up to a week. But every couple years I have an episode that lasts for many weeks or even over half a year (happened in 2007 – collapsed at work. off work for 3 weeks, then still really bad but dragged myself into work, hardly functioning, but didn’t want to lose my job).

    I also get episodes of pain when I point my fingers or toes. Feels like a knife cutting me. When the sharp pain happens, it feels like things are so tight in my leg or foot that it is pulling on my nerve when I point, then eventually (after a couple weeks of this pain) it tears or something, and it goes numb. No more pain, but now it is numb and takes about half a year heal. Meanwhile, the tightness goes away, so then that toe or finger is back okay after about half a year. But, then it happens in another limb. It happens on and off in both hands and both feet. Does anyone else have this happen?

    Its interesting to read in people’s blogs about brown urine. I have also had that, probably 2-4 times a year. I’ve always been puzzled by it. Its usually gone by the next day. I’m very curious now what my CPK level was at those times. I hope I haven’t caused any kidney damage.

    I can also REALLY relate to the comments on finding excuses to stop walking when your legs tighten up and refuse to move forward any longer and you need to let the legs rest up for a couple minutes before starting to walk again. I’ve done the pretending to be engrossed in a phone call or looking at scenery tactics myself many times! It keeps people from bugging me about why I am standing there. I have a long walk from the parking lot into work, and on bad days, I may have to stop and rest 5 or 6 times along the way. I have found my favorite places to lean against (light pole, tree, wall) and once in the building, I go into the bathroom and sit on the toilet to rest my legs. Then there is usually an empty conference room here and there that I can put my legs up on a chair in. On a good day, I get to my desk in 10 minutes. On a bad day it takes 20-45 minutes to get to it. Very frustrating!

    Allie: Yes, I also have a very sensitive digestive system. I don’t know if it is related to the muscle problems, but I found it interesting to hear you also have that issue. I also have had to give up most fruits. The only fresh fruits I can eat are bananas (but not real ripe ones) and cantalope. Most everything else causes me problems. I can eat some canned fruits okay though. I also can not eat a lot of fresh vegetables, can not tolerate greasy food, or any of the artificial sweeteners. Its tough to eat a balanced diet, when there are so many restrictions on what I can tolerate.

    Anyway, I guess this got pretty long. This is my first time on this website. Just stumbled across it in googling muscle weakness. Tired of no doctors figuring it out, so decided to do some research myself. I had Lyme disease for 20 years (9 yrs old to 29 years old when I had treatment that seemed to get rid of the arthritis). But I continue to have these bouts of weakness and fatigue and my Lyme tests come back negative now. So, they don’t think it is that. I’ve been tested for MS, MG, EB, RA, Lupus, and many other diseases with no definite diagnosis, but no one has ever mentioned a metabolic disorder. I think that is the next avenue to pursue. Both my mother and my sister have similar symptoms to me. We have long thought there was something genetic involved here, but no one has figured it out. Maybe this is FINALLY the answer???…..
    I do not have a diagnosis of McArdles, but the more I read, the more I think this (or a similar metabolic disorder) may be what is wrong with me. I am 49 years old. I have been to lots of different doctors through the years, trying to get an answer to my episodes of extreme fatigue and muscle weakness (muscles tighten up and won’t move). Most of these episodes last only a couple hours or a couple days, maybe up to a week. But every couple years I have an episode that lasts for many weeks or even over half a year (2007).

    I also get episodes of pain when I point my fingers or toes. Feels like a knife cutting me. When the sharp pain happens, it feels like things are so tight in my leg or foot that it is pulling on my nerve when I point, then eventually (after a couple weeks of this pain) it tears or something, and it goes numb. No more pain, but now it is numb and takes about half a year heal. Meanwhile, the tightness goes away, so then that toe or finger is back okay after about half a year. But, then it happens in another limb. It happens on and off in both hands and both feet. Does anyone else have this happen?

    Its interesting to read in people’s blogs about brown urine. I have also had that, probably 2-4 times a year. I’ve always been puzzled by it. Its usually gone by the next day. I’m very curious now what my CPK level was at those times. I hope I haven’t caused any kidney damage.

    I can also REALLY relate to the comments on finding excuses to stop walking when your legs tighten up and refuse to move forward any longer and you need to let the legs rest up for a couple minutes before starting to walk again. I’ve done the pretending to be engrossed in a phone call or looking at scenery tactics myself many times! It keeps people from bugging me about why I am standing there. I have a long walk from the parking lot into work, and on bad days, I may have to stop and rest 5 or 6 times along the way. I have found my favorite places to lean against (light pole, tree, wall) and once in the building, I go into the bathroom and sit on the toilet to rest my legs. Then there is usually an empty conference room here and there that I can put my legs up on a chair in. On a good day, I get to my desk in 10 minutes. On a bad day it takes 20-45 minutes to get to it. Very frustrating!

    Allie: Yes, I also have a very sensitive digestive system. I don’t know if it is related to the muscle problems, but I found it interesting to hear you also have that issue. I also have had to give up most fruits. The only fresh fruits I can eat are bananas (but not real ripe ones) and cantalope. Most everything else causes me problems. I can eat some canned fruits okay though. I also can not eat a lot of fresh vegetables, can not tolerate greasy food, or any of the artificial sweeteners. Its tough to eat a balanced diet, when there are so many restrictions on what I can tolerate.

    Anyway, I guess this got pretty long. This is my first time on this website. Just stumbled across it in googling muscle weakness. Tired of no doctors figuring it out, so decided to do some research myself. I had Lyme disease for 20 years (9 yrs old to 29 years old when I had treatment that seemed to get rid of the arthritis). But I continue to have these bouts of weakness and fatigue and my Lyme tests come back negative now. So, they don’t think it is that. I’ve been tested for MS, MG, EB, RA, Lupus, and many other diseases with no definite diagnosis, but no one has ever mentioned a metabolic disorder. I think that is the next avenue to pursue. Both my mother and my sister have similar symptoms to me. We have long thought there was something genetic involved here, but no one has figured it out. Maybe this is FINALLY the answer???…..

  62. Diane
    April 30th, 2010 at 19:14

    Allie,

    Jim seems to have”covered the bases” pretty well, so there really isn’t much I can add. I have noticed that when I have an episode (where my muscles contract and are very painful, lasting for many days or weeks, with discolored urine), I find that my stomach is very queezy and I have to be very careful of what I eat. My brother also has McArdles, and before he was diagnosed and had a very bad episode, they thought he also had an ulcer. He was eating baby food for many months. I believe there are a lot of toxins that are thrown off into our systems during these times and our digestive tract and stomach need a little TLC to overcome the toxins. I don’t know if this helps, but it is something my brother and I have both experienced.

    Good luck,
    Diane

  63. Jim Ottesen
    April 29th, 2010 at 16:20

    @Allie T
    Allie,

    The reasons for my concerns about pain and gait are two fold. First,
    Fibromylagia is a possibility as is peripheral neuropathy. Your
    neurologist should rule both out based on your history. A muscle biopsy
    does make sense, but is the doctor a neurologist and is the procedure to
    be done in an excellent hospital which can properly handle the tissue
    sample. Finally, the biopsy must only be done to either confirm a preliminary diagnosis (If so, what is the suspicion) or to rule out certain possibilities (If so, what are they). In any event, the doctor
    must be careful not to overlook testing the tissue for unexpected possibilities, like Mitochondria Myopathy or metabolic issues. An accurate diagnosis for a neurological disease is best given by a board-certified neurologist dealing with such patients daily and testing for
    such diseases on a regular basis. This is usually done at higher-level
    university/hospitals. Dartmouth might be fine – but you need to call them to check their qualifications in the area of testing, diagnosis and the area of neuropathology diagnosis. Also, see if they, or someone in your area does the nonischemic forearm test for McArdles and/or the genetic blood draw to determine which metabolic disease
    you might have.
    I am not aware of any negative effect on your menstrual cycle.
    Gout, some digestion issues, type II diabetes, exhaustion and other
    issues seem to be more prevalent in “M” patients than the general population. For your ongoing irritable bowel syndrome, you need to see
    the best gastrointerologist you can find. It could be as simple as
    an allergy to milk or acid or as complex as colitis. You
    need to have it checked by a specialist.
    I have a great deal of sympathy for you, but now you must get the ball
    rolling to get some answers. I hope I have helped to provide a pathway.
    Let me know if I can help with other issues.
    Best wishes for your improving health,
    Jim

  64. Allie T
    April 29th, 2010 at 12:29

    Jim,
    Thank you so much for writing back to me with your thoughts. As far as the questions you asked me, I don’t notice a lot of pain if someone just pushes me but if something pokes my muscles it hurts. my 2 year old hurts me all the time when she is sitting on me by poking her little elbow into me. The tingling and numbness is something I have had off and on for so long I don’t know if it is associated with this problem, it doesn’t happen often though. And gait and falling, I am WAY more clumsy than I used to be. I have fallen down the stairs more times than I want to admit in the last few years, but again, maybe I’m just clumsy.
    I wanted to ask you a few more questions too. My doc is referring me to a rhuematologist in Dartmouth that also deals with other muscle diseases because they have ruled out inflammatory reasons but he doesn’t know who else anywhere near here deals with other muscle diseases. You said a neurologist or geneticist, do you think I would be more likely to get a diagnosis from them. The specialist I am going to see wants to try to diagnose me with a muscle biopsy but will that show anything if I am not feeling bad at the time?
    I was also wondering for any females, do your symptoms get better/worse with different times in your menstrual cycle? I am just trying really hard to find a connection to some trigger that makes be better/worse some weeks than others.
    My last question is, does anyone have digestive symptoms associated with their condition? I have the most irritable stomach possible and have had to completely eliminate fruit and I eat gluten free. Candy and carbs make me feels bad all over, could this be related or just a separate problem? Thank you so much for listening to me and trying to answer my questions, I feel like I am all over the place but I just want as much info as I can get before I see a specialist so I can be my own advocate. I don’t want to be misdiagnosed again=) Thank you , Allie

  65. Jim Ottesen
    April 28th, 2010 at 21:52

    @Allie T
    Allie,

    It sounds like you are a good candidate for McArdle’s Disease.
    While a high CPK is not the only indication, if you have it the
    possiblity is there. Another indication is fatigue or exercise
    intolerance. At this stage, you need to see a neurologist and/or
    geneticist to test you for McArdle’s Disease and any other metabolic
    disease or neuromuscular issue which seems to fit your symptoms. It
    is easy to rule out “M” by having the non-ischemic forearm test or
    a genetic blood draw to have tested for the disease. Some folks
    do suffer cramps (like me), but not everyone. Until we get a firm
    diagnosis, I suggest you go easy on exercise, lifting, stressing
    your muscles and any physical games. Drink 6 to 8 glasses of water a day, be sure you are getting your daily requirenent of B-6 and other vitamins/minerals, lots of fruits and vegetables, protein foods and
    salmon or other good fish.
    Do you have pain to someone touching or pushing you? Any problems with
    gait or falling? Tingling or numbness in your toes or fingers?
    Until you get with an excellent Board-Certified Neurologist familiar
    with the neurological diseases like “M”, Muscular Dystrophy and the
    rest, keep checking the blood for CPK, urine function and liver readings
    and the urine for blood and protein.

    Keep us posted.

    My very best wishes to you.

    Jim

  66. Allie T
    April 28th, 2010 at 12:17

    well I tried to post on here yesterday and it was here but when I checked, but today it was gone? But I will try again, only a much shorter version. I am hoping to get advice or input on my situation. I am a 26 yr old woman and I have been having issues for years of just feeling bad but not really being able to pinpoint what it is. I have digestion problems as well as fatigue problems and I don’t know if they are related or not but different docs have given me so many different diagnosis over the years and very few of them seem to fit. Since having my son 1 1/2 yrs ago I have been much worse where I have periods of sever fatigue that can last weeks, where my muscles just feel so week just trying to do the very simplest of tasks is very hard and I have to take a break. Stress aggrevates my symptoms and also I get short of breath sometimes too. My newest doc decided to test my cpk and it was 1,232 with elevated liver function, 4 days later it was 4,700 and higher liver funtion. He was concerned and sent me to a reuhmatologist but the frustrating part is I always suddenly start feeling better and almost normal for a week or two and by the time I went to see her and they did my blood it was back down to 670 in just a few days. She has no idea and wants me to see a specialist because she thinks muscle disease. I have looked into many and I have yet to see someone describe weeks of weakness and fatigue followed by short “remissions”. I also don’t have much cramping… just one calf that will cramp up for days or even weeks, and my neck cramps a little. Does this sound familiare to anyone? Mcardles or something else you have read about?? I would be so very appreciative of any help, thank you!

  67. Jim Ottesen
    April 28th, 2010 at 00:39

    @cassi
    Cassi,

    I tried to send a your grandmother – I hope she got it.
    I also suggest you copy some of the excellent material from this
    site and send it to her. Be sure she has periodic check-ups to
    check urine levels to look for blood and/or protein and her blood to
    look at CPK levels and kidney function.

    She should drink enough water (6 to 8 glasses a day), take a good
    multi-vitamin/mineral pill, lots of vegetables, fruits, protein and
    salmon or other cold water fish.

    Best wishes,

    Jim

  68. Allie T
    April 27th, 2010 at 14:04

    Hi everyone,
    I hope someone might have a chance to read this and give me some feedback, it would be so very much appreciated. I am a 26 yr old woman, and I have just recently been told I probably have a muscle disease. I have been to the doc many times over the years since my mid teens because something was just wrong but I didn’t know what. I have been diagnosed with so many things by now from different docs. hypoglycemia(which I do have), depression(don’t have it), eating disorder(definitely not), celiac(? maybe), chronic Epstein-bar( does it even really exist?), Allergies(yes), Chronic fatigue(again skeptical). More recently though since the birth of my 1 1/2 yr old I have been so much worse, I get periods of time where I am so exhausted and my muscles feel so weak that I have trouble tying my kids shoes and putting their coats on without taking a break to catch my breath. These periods can last two weeks or more where every task is just so hard all I can do are the necessities, and I get so irritable because everything is so overwhelming. But then I start to feel better and I will have a week maybe a little more where I feel better, almost normal, and then it starts again. I have been going to a new doc and he decided to FINALLY check my cpk levels. The first check they were at 1,232 with elevated liver function, 4 days later they were 4,700 with higher liver function(I was feeling my worst the day before these numbers). He ordered my numbers again and got me in with a rheumatologist but by then I was feeling better and my numbers went down to 673 in just days. She told me she had never seen anything like this and I don’t have anything in her field but I must have some sort of muscle disease and they want me to see a specialist . Now I was wondering if any of you experience the same sort of thing where you have periods of time where you are really bad and then ones where you feel much better, also I don’t get muscle cramps as much as just weakness all over. The only cramp I get is in my neck sometimes and my calf where it will cramp for days or even weeks. I have always been healthy and fit and if I had any trouble I would just push through it. It seems like people with the muscle diseases like this one can’t push through it so I am confused how I could have gone this long without major complications. Please if anyone has any insight on what this sounds like or anything please let me know… I don’t know how long I will be waiting to see a specialist and I am very frustrated! thank you so very much!

  69. Luke
    April 26th, 2010 at 02:13

    @Gary Martin

    I’m 20 and was diagnosed with Mcardle’s my senior year of high school. I went through high school playing football/weightlifting/golf/basketball. Never could figure out why I hurt all the time. Often had dark urine after weightlifting and always thought that was what was supposed to happen after a hard work out. The first day of weights class my senior year I lifted weights for the first time in a couple months and soon after had to go home because of vomiting and my muscles were locked up, I ended up being rushed to the hospital. 6 months later I found out it was Mcardle’s. I’m in college now I don’t work out very much. So it’s harder to get comfortable again with exercise. What I found that works the best, especially this winter when I went home and skied for a month, is drinking lots of Gatorade or water and try and snack on an energy bar or eat some food before you exercise. Drinking a lot of fluids is the key thing. Constantly being hydrated and maintaining your sugar levels. Hope this helps.

  70. Brenda
    April 25th, 2010 at 00:07

    My sister and I both have McArdles, my sister has been totalaly disabled since she was 40 years old. In the last few years she has leaned better ways of coping and has not gotten into trouble. As for me I refused to get a biopsy because of insurance. But in august i made a big mistate I had a clogged sink and didn’t want to wait for help I PLUNGED!!! it myself 5 days in the hospital later i had my biopsy and joined my sister on the short list of people with McArdles. now my question to you is this. My biggest muscle cramps are in my back standing, bending,walking on the slightest incline will put down for days. My sister doesn’t have the back issue hers is mainly legs.the doctors have no anwsers.I’VE Had to give up my job of 27 years because it requires standing throughout the entire day. does anyone have this problem oh! I’m 61 years old and this has just started getting worse since my hospital stay in august I’m older than my sister could it be that the longer you have it the weaker you get. I have blood in urine everytime it’s checked. I have been turned down for ssd for my back the mri shows nothing to cause this much pain. I’m going in april to birmmi

  71. Edward Mann
    April 23rd, 2010 at 22:02

    Hello,can anyonegive me some advice as to where I may find a Dr. to talk to about McArdles I live in Va. and it seems as though the Drs. here in Va. won’t test for itI think that I have McArdles please help thanks Ed.

  72. Diane
    April 12th, 2010 at 21:25

    @Emile Thebaud
    Emile,

    I too have McArdles and I am 62 years old and have had two orthoscopic surgeries on one knee. The latest one was two years ago. I still have pain, but not as great as before. I am trying my best to put off knee replacement since no one seems to know how a McArdles person might recover from this surgery. What type of surgery did you have? Did you do Physical Therapy? I found that I had to be very careful with the PT so as to not strain my muscles. The Physical Therapist was most mindful of this fact and watched me closely, letting me be the guide of what I could tolerate. Hope this helps and good luck. If I can answer any more questions, don’t hesistate.

    God Bless,
    Diane

  73. Steve
    April 6th, 2010 at 19:01

    Hi everyone,

    I have been diagnosed 14 years ago and just recently have been told my liver enzymes are climbing and an ultra sound indicates that I have a fatty liver. I saw Dr Slonim many years ago and was told to eat 16oz of animal protein per day and walk (slow then increase) for an hour a day. This was difficult to keep as a regime and I very seldom hold to it any more. My concern is that with the increase in animal protein as Dr Slonim suggests it may increase my liver condition.
    Any one else see this condition?

    Thanks,
    Steve

  74. cassi
    April 2nd, 2010 at 14:09

    So sorry it is ehurless@agapemail.net I wrote it wrong on the post above.

  75. cassi
    April 2nd, 2010 at 14:08

    Hello. I am a granddaughter of someone with mcardles and she would very much like to talk to someone with this, she is struggleing and would benifit form some support from others that have this as well. If anyone could email her she doesn’t have internet but has agape mail for email. Her email is ehurless@agape.net Thanks and the best to you.

  76. marlese weaver
    April 1st, 2010 at 08:13

    Thank you so much for your advice Jim for Carrie. She is going to try this and discuss her accupril at the doctors. She is slightly complicated as she has lupus and anti phospholipid syndrome as well. She only discovered she had mcardles recently with forearm test prior to that she went into acute renal failure following the birth of her son and it was then they discovered she had lupus. I think it was probably the mcardles back then also. Your advice is much appreciated

  77. maddy
    March 31st, 2010 at 19:12

    @Tammy

    my mom has mcardles.
    and she did just fine having two babies.

  78. Laura
    March 31st, 2010 at 00:31

    @June
    Anyone have any feedback about McArdles and pregnancy? I had a complicated pregnancy about a year ago, and was wondering if anyone had complications with pregnancy. I am wanting to get pregnant again, but not sure if I will go through the same things. I was reading another message that mentioned about glucose testing. Is there any relationship with McArdles and Diabetes or McArdles and hypoglycemia? Do people with McArdles feel tired all the time?

  79. Emile Thebaud
    March 27th, 2010 at 11:49

    Hello again,im 48 year old male who back in early january had basic knee surgery, been back to the surgeon many of times complaining that my knee feels worse than before the surgery. My doctor thinks im crazy and insists i should be getting better but im not does having McArdles have a bearing on why my knee is not getting better,did i by getting surgery and having McArdles damage me worse than if i didnt have surgery.

  80. Betty Gray
    March 24th, 2010 at 04:04

    I was diagnosed with McArdles but after a biopsy it was determined that I have IBM or Inclusion Body Myositis. I have two daughters that have all of the symptoms of McArdles from a very early age. One daughter last week had a muscle biopsy and she also has IBM. I have a niece that was diagnosed with McArdles. Some of these people that have vacuoles in the muscle cells may also have IBM. Is it possible to have both diseases, McArdles and Inclusion Body Myositis? The doctor is now going to do the forearm test on my daughter. Betty@Site Admin

  81. Jim Ottesen
    March 23rd, 2010 at 03:45

    @Gary Martin
    Gary,

    Above, I mentioned the one doctor I think can help you.

    You need to be very careful of the muscle stress your son is enduring to
    play baseball. The danger to his kidneys is very real. Acute renal
    failure can be deadly. He is at risk as long as he continues to play
    the game – that’s McArdle’s Disease. Presently, there is no cure. However, I have had some success with the following efforts:

    B-6 to 100mg, L-Carnitine to 500mg, 6 to 8 glasses of water every day,
    an exercise program that does not include weights or muscle stress,
    avoid holding, pushing or lifting any item for more than five seconds,
    get a script for Hemastix (as mentioned to Marlese), get a good “greens” formula and a multi vitamin/mineral by Theragran, lose
    a little weight by avoiding too many sweets and eat more greens, salmon, fruits and chicken. A good cardio-vascular exercise program
    will help, but use the exercycle or recumbent bike. Get a personal
    trainer who will try to work on body “tone” – not body “building.”

    Have periodic checks with your doctor to perform blood tests for CPK,
    sugar, liver function and kidney function and urine tests for blood,
    protein, etc. Before you start the foregoing program, get the doctor’s
    approval.

    I hope these help, but you son needs close supervision. If the ambulance trips to the hospital continue, you need to consider an alternative sport for your son.

  82. Jim Ottesen
    March 23rd, 2010 at 03:03

    Hi Folks,

    As to another authority, I suggest Dr. Ronald G. Haller in Dallas,
    Texas, as one of the world’s best neurologists for McArdle’s Disease.
    Getting an appointment is not easy as he is also one of the primary
    leaders in the field of McArdle’s research. Having said all of the
    foregoing, call 214-345-4611 or fax 214-345-7105 and ask what you need to do to schedule an appointment. If you get Marta, his nurse, please
    give her my best regards and tell her I referred you.

    To: Marlese: The meds to protect Carrie’s kidneys could very well cause
    her vomiting. I suggest you push the doctor for an alternate answer.
    It is unusual for “M” patients to experience unusual vomiting. Is her
    normal CPK 20,000? Or, after muscle stress? Try to get a script from
    her doctor for Hemastix to measure for myoglobin whenever she has muscle
    pain, feels feverish, has dark urine or feels weak for no apparent reason. The stix are a home test which will alert you to the seriousness of the problem. If the reading is high, call the doctor. If low or nil, start 6 to 8 glasses of water every day to keep the kidneys flushed clean. Walking a short distance every day is OK to help
    the entire system, but check all of these suggestions with your doctor.

    Please let me know how Carrie responds.

    Best wishes,

    Jim

  83. Diane
    March 22nd, 2010 at 21:12

    Dear Gary,

    My heart goes out to you. We McArdles patients have found most of our help through trial and error. You asked for a “guru” in McArdles. Dr. Slonim at Manhasset hospital in Manhasset NY is a pediatric endrocrinologist and has helped many people. If you look him up on the internet, you will get a number for him and he will personally return your call. I have spoken with him, but have not been to see him. I wish you luck. There are not many doctors out there that know a great deal about McArdles, it is mostly trial and error. All is not hopeless for your son…it takes patience and learning to see how his body works, and what it will tolerate. If I can answer any more questions, or be of assistance, I will do my best, as I’m certain that most anyone on this website will do.

    God Bless, and don’t give up..
    Diane

  84. marlese weaver
    March 18th, 2010 at 22:17

    Hi my daughter Carrie has confirmed mcardles. Her main disability is severe bouts of vomitting and head neck and jaw pain at present this is requiring weekly iv treatment at our local gps .Her ck is around 20,000 (n.z values) presently. She takes ACCUPRIL RX TO PROTECT HER KIDNEYS AND WE WONDER IF THAT COULD BE CONTRIBUTING TO HER SYMPTOMS SHE IS 26 YEARS OLD.THANKS IF ANY ONE HAS ANY ANSWERS.

  85. Gary Martin
    March 12th, 2010 at 04:24

    @Kathryn Wright
    Hi,

    My son has been diagnosed with McArdles Disease. He is 16 year old boy and plays on his Varsity Baseball team. Three times in the past year he has dealt with such severe cramping through his legs, his back, and his neck and arms simultaneously. He has been hospitalized and transported via ambulance each time. He is 6’1″ tall…..weighs 240 because he can’t run or jog more than a mile or two…….He can, but he cramps soon after. Then the ER…Then the 3 to 4 day tender to the touch recovery…..Sound familiar out there?……..Come on…Please help us here…..Do you have any suggestions how he should eat, what supplements?…Glucose tablets?….Vitamin b6?…..What should we do…I’m ready and asking for advice….Plus…Who is considered the very best…The authority…The Grand PooBah of Dr’s for Mcardles and how do I get in touch with that person?….Thanx!

  86. Jan Weekley
    March 9th, 2010 at 21:17

    More thoughts….
    Someone asked if anyone was “double jointed”. Yes, I am in my knees. They hyperextend. In order to stand, I “lock” my knees.
    Also, I’ve been told that I am pre-diabetic, so I should not be eating a high carb diet or drinking sugary drinks. So now what?
    Does this sound like McArdle’s Disease?

  87. Jan Weekley
    March 9th, 2010 at 21:08

    Hello, again!
    By the way, I thought I’d mention my experiences with statins. I was first prescribed Zocor for high cholesterol. My doctor told me to stop taking it, but he didn’t have to tell me. I found suddenly one morning that I was aching pretty much all over, especially in my wrists, elbows, shoulders, legs, etc. I felt that I had aged tremendously. When I tried to walk a few steps to the bathroom, my legs felt so heavy that I was having trouble lifting them. I was seriously wondering if I was going to have to call the paramedics.
    My doctor changed me to 5mg of Crestor. I had problems with acid reflux (GERD) and urinary incontinence. It did greatly improve the cholesterol, though.
    I have stopped taking the Crestor on my own, and my acid reflux (GERD) and urinary incontinence have almost completely disappeared.
    If I have McArdle’s, the effects of the statins may have been weakening those bladder and stomach muscles. This is something that neither me or my doctor would have thought about. This may be happening to other people as well.
    Thank you in advance for any thoughts on this topic.
    Jan

  88. Jan Weekley
    March 6th, 2010 at 03:17

    Hi, EVERYONE!!!

    This is amazing!!! I’ve been reading things that are very much like myself. I do not have a diagnosis, but I keep noting how different I seem to be from other people who don’t have this disease.

    In recent years, I’ve had bad trouble taking Zocor (a statin). I’ve wondered why.

    Lately, I have been traveling. I cannot keep up with the groups. I’m 59 and people who are 20 or even 30 years older than me are keeping up just fine. I’m sitting on the bus or am having to walk and rest, walk and rest, etc., or I’m just in pain – legs and feet cramping. I’ve been told that I’m pretending, lying, trying to draw attention to myself, etc.

    When I was growing up, I had some similar problems, but they did not interfere with my life that much. I’ve always had the “exercise/rest, exercise/rest” problem.

    I could list many other issues which are affecting me that have been touched on in these posts, such as pre-diabetes, kidney problems, muscle cramping, AS, etc.

    After returning from my last trip about 2 months ago, the thought occurred to me that I might have something wrong with my muscles. ( My heart had been checked rather throughly before and nothing significant there.) BINGO!!! Right away, there was McArdle’s Disease. It sounds just like me.

    Now what?

    I am afraid of being LABELED and having problems with my INSURANCE!!!!

    Any suggestions?

    Thanks!
    Jan

  89. Jim Ottesen
    March 3rd, 2010 at 12:50

    Lynn,

    Thanks for your thoughts of encouragement to all of us.

    From what you’ve posted, it does not sound like you have McArdle’s Disease, but your trip to Mayo should develop infomation on exactly what you do have. I wish you good luck on those findings. The key is
    to never give up on your efforts to obtain a correct diagnosis bassed
    on proof from the tests performed. Yours is a very interesting case
    and I hope you will keep us informed.

    Best regards,

    Jim

  90. Lynn
    March 2nd, 2010 at 23:59

    Hi everyone. I want to try to respond to some of your questions and let you know a little about what’s been going on with me. As far as Mayo Clinic goes my doctor has faxed my records to them and I am suppose to be getting a call within a few weeks. When I hear from them I will be sure to ask about what testing to expect.

    The neurologist I have been seeing actually specializes in MS and other neurodgenerative diseases. In the beginning, this is what it looked like I had. I’ve been with her for two or three years now. I’ve stuck with her because she has really worked with me and believes in me. For a while, I wasn’t progressing, now I am. I beleive she sees that she cannot help me, but she is trying to get me to someone who can. She refered me to a Neuromuscular neuro who could tell something wasn’t right with me, but dismissed me after a few negative tests. I asked him about the forearm test and he didn’t think it was necessary.

    I really do not feel as if I have “M” anymore. I do have some symptoms of “M”, but, as I said before, I share more in common with mito patients…even my medical history and family medical history.

    Kathryn, thank you for the information. If I’m reading the biopsy report correctly, it looks like my myophosphorylase levels were normal.
    I was hoping to get a skin biopsy because I’ve read that it can be helpful in diagnosing mito.

    Here is some of what my biopsy report says: Only minimal changes are seen, specifically a minimal increase in variation of diameter of muscle fibers, rare atrophic fibers of both fiber types, and a slight tendency for type 2 fibers to be slightly smaller than type 1. There might be a minimal component fo type 2 fiber atrophy…..There is mild perimysial adipose tissues disposition (does anyone know what this means?)Oh, it says reactivity for myophosphorylase is present.

    I guess I really don’t belong here, but maybe my story can help someone. I think one of the reasons my neuro focused on “M” is because of the exercise intolerance I have. But, I don’t usually get a second wind. I have a family hx of migraines, had cyclical vomiting as a child, developmental delays, eye tracking problems, ptosis, digestive problems, shortness of breath, and neuropathy.

    Thanks for all of your help. I so appreciate eveyone’s input. I hope that maybe I’ve helped someone by posting here. What I can tell eveyone who isn’t diagnosed is don’t give up!!

    Lynn

  91. Jim Ottesen
    March 2nd, 2010 at 16:54

    @Lynn
    Lynn,

    Just a note to see if you have all the information you need and to see if you made the call to Mayo. I’m curious to see how they respond before I recommend them to other McArdle’s patients.

    Hope to hear from you soon.

    Best wishes,

    Jim

  92. eduardo lopez
    March 2nd, 2010 at 03:33

    Hello
    My wife (32) has McArdle’s disease and just found out she’s pregnant. We’re really concerned that her constant abdomen cramps will lead to a miscarriage. Any advise about this disease and pregnancy?
    thanks very much

  93. Jim Ottesen
    February 28th, 2010 at 15:16

    Kathryn,

    Thanks for the insights. On the ischemic forearm test, when both the
    lactate and the ammonia fail to increase, the lack of movement in the lactate dictates McArdle’s Disease, but if the ammonia fails to move
    to norm what does that suggest?

    Also, many doctors use different ways to achieve the “M” diagnosis. In
    my case, they went directly to the biopsy (which they messed up), but
    it is only my opinion that if “M” is suspected, the easier path to the
    diagnosis would be the genetic evaluation, then the non-ischemic forearm
    test and then the biopsy. I know about the “second wind” test, but forget that possibility (I “failed”that test).

    At what CPK or other specific level, is the hospitalization for IV treatment required as compared to home rest with lots of fluids. In
    my case, the CPK was a relatively mild 7,000, the kidney function
    abnormal, the liver enzymes abnormal, the Hemastix on higest level, but
    the GP sent me home for rest and fluids. Clearly, the hospital was not
    on my desired itinerary, but I just wondered if there were a rule of thumb guidance.

    Some folks have symptoms that resemble other neuromuscular diseases as
    well as “M”, shouldn’t they go straight to the biopsy option. I know you’re not a doctor – nor am I – but to help others, a plan for diagnosis would be helpful. In my case, most of my doctors (including the Cleveland Clinic)seem to lack a consistant pattern to reach the McArdle’s diagnosis. It almost resembles a hit and miss series of events.

    Thanks.

    Best wishes,

    Your “M” friend,

    Jim

  94. Kathryn Wright
    February 27th, 2010 at 09:47

    Hi Lynn,

    You asked whether muscle glycogen phosphorylase (also called myophosphorylase) could be missing from just some muscles. The answer is that if you have McArdle’s, you don’t have myophosphorylase enzyme activity in any of your skeletal muscles – these are the muscles you normally use to move – for example, the jaw muscles you use the chew food, thigh muscles and leg muscles, and arm muscles. Muscle biopsies are usually taken from the thigh, calf or bicep. If the muscle biopsy shows the absence of myophsphorylase, then a diagnosis of McArdle’s would be made. If myophosphorylase is present, McArdle’s would not be diagnosed – but see my note below. There is a different form of the enzyme in smooth muscle (the muscle of the intestine, internal organs, womb) – so these muscles are not affected in people with McArdle’s.

    An important note for people having a muscle biopsy is that you should not have it just after muscle damage. (Muscle damage is usually indicated by muscle cramps, pain, and a high creatine kinase level.) After muscle damage has occurred, the muscle cells rebuild themseleves. During the rebuilding, they produce another form of glycogen phosphorylase enzyme. Once the rebuilding is finished, this enzyme stops being made, and usually myophosphorylase is then made (but not if you have McArdle’s). If a muscle biopsy was taken while this rebuilding is occuring, the other form of glycogen phosphorylase enzyme would give a positive result in the test – and you would incorrectly be told that you didn’t have Mcardle’s.

    Another note is that a very small number of McArdle’s people have a very low level of myophosphorylase activity (sometimes called “residual activity”). As a rough guide, if you have less than about 50% of “normal” myophosphorylase activity, you will have some McArdle’s symptoms.

    However, assuming that the muscle biopsy was not taken immediately following severe muscle damage, and that they performed the test correctly, the muscle biopsy test is quite reliable. If you were told that you have normal levels of myophosphorylase activity, this suggests that you do not have McArdle’s.

    On the topic of diagnosis, McArdle’s can’t be diagnosed by a skin biopsy. Skin cells also produce a different form of glycogen phosphorylase, not myophosphorylase, and therefore are not affected in McArdle’s people.

    One clue to what you may have would be the results of the ischaemic forearm test. Do you know whether the results were “normal”, or if any unusual rise in lactate or ammonia (or lack of a rise/increase) was seen? Unusual changes are not diagnostic just of McArdle’s, and can be seen and used as clues to diagnose several other conditions. Hopefully the person who carried out the test will have looked at the results to see if they provided any clues for diagnosis.

    Hope that helps,

    Kathryn

  95. Marcelo Argentina
    February 26th, 2010 at 02:08

    Hola, por aca de nuevo. Ayer yo lei que el Dr. Weinstein David de la Universidad de Florida esta trabajando sobre la cura en enfermedades de glucogeno. Aunque no me especificaron si es sobre Mc Ardle.
    Alguno de ustedes sabe algo sobre el trabajo de este doctor?
    Bendiciones

    Hello, here again. Yesterday I read that Dr. Weinstein David, University of Florida is working on a cure for diseases of glycogen. Although I did not specify whether it is on Mc Ardle.
    Any of you knows something about the work of this doctor?
    Blessings

  96. Jamie Hess
    February 25th, 2010 at 19:12

    Hi, my name is Jamie. I am 29 years old. I’ve had McArdles since I was a small child. My father has it, as well as 5 out of 9 of us kids (me counted) as well as one cousin. It amazed the doctors to realize there were so many of us in one family. They want us to do genetic testing as a family. I’ve always had the muscle fatigue and cramping when walking (uphill is the worst) and running. The muscle spasams started when I was about 16. My first spasam that sent me to the ER was when I was 20. My muscle in my upper arm was like a rock and the pain was so horrific. Since then, I’ve had many many more painful spasams and several ER trips. The doctor prescribed my Flexeril for when I have a spasam and it tends to help about 80% of the time if I take it right away after the cramping starts. The last ER trip was 1 1/2 yrs ago after climing 2 flights of stairs. I had a muscle spasam in my left leg. After giving me as much pain meds and muscle relaxers possible, the ER doctor realized that the leg had went into compartment syndrome. They transferred me to the hospital that my neuromuscular doctor was at. I was in the hospital for 15 days, had to have 2 surgeries to first relieve the pressure and cut out damaged tissue and muscle and another surgery to do a skin graft to close up the leg. My neuromusclular doctor had never heard of a McArdles patient having compartment syndrome from a muscle spasam. It was a horrible painful experience that I hope none of you will ever have to go through, but I thought I would share anyway just so you are aware it can happen.

    BTW, I’m so glad that there is a support site like this one. Its nice to have a place to talk about our experiences!

    Thanks,

    Jamie

  97. Jim Ottesen
    February 25th, 2010 at 03:21

    Lynn,
    Going to the Mayo Clinic will NOT be a waste of time if you heed those
    suggestions I made earlier. You, your doctor and Mayo MUST all be on the same page. You will also need copies of all med records, reports,
    doctor’s concerns and a letter outlining ALL of your pain, symptoms, concerns, problems, medications and those specific activities that seem
    to cause you pain or discomfort in any way. Things like droopy eyelids,
    etc. can all be very meaningful when all listed together.
    No, McArdle’s is a gene defect which manifests in the muscles – everywhere, but mostly pain comes from skeletal muscles which are used a lot. The muscle cells need the missing enzyme (myophosphorylase),
    which is missing in “M” patients, so they don’t get fed the sugar they
    need, so they scream out in pain. When really hungrey, they gobble up
    adjoining muscle tissue, but that’s another story.
    You’re not “hogging” the forum – it was designed to inform. You and I continue to inform. Best of all, we worry about you and want to help you.
    I have seen low vitamin D and B-6 in other patients – it seems to be a common complaint. Be sure to take supplements where shortages appear.
    Vitamin D helps your immune system and supports bones and the utilization of calcium.
    Lynn, you have my personal e-mail address so write me any time directly or here. Sometimes folks have issues they might not want to broadcast
    on an open blog so write me whereever is best for you.

    Please let me know when you can get into Mayo, but start your preparations soon as sometimes it takes a time before you can get in.
    Call and start getting together all the “stuff” I said you will need.

    Let me know how things are going.

    Jim

  98. Lynn
    February 24th, 2010 at 20:02

    It looks as though I will be going to the Mayo Clinic. I am so afraid it will be a waste of time. I’m just not sure I can go through that again. Our insurance will cover a lot of it, but we will have travel and hotel expenses. Once I know that they have accepted me, I am going to find out what they plan on doing. I agree that it needs to be done right if I’m going to do do it.

    In the meantime. I am having the blood test for McArdle’s done. I am still planning on emailing you the biopsy report Jim. I’m wondering if McArdle’s is one of those things that might only show up in certain parts of your muscles, I mean could it be there and be missed by the biopsy. I really would like to know that.

    I am so worn done with feeling bad and not having answers. I’m sorry I’m hogging this forum.

    Oh, I do have a low vitamin D level…I believe it was like 24. I am not always real good about taking my vitamin D, but I do have some to take.

    Thanks for all of your help. I’ll try and correspond by email. If anyone wants to email me, my email is shalynn@aol.com be sure to put McArdles in the subject line so I don’t delete. I hope it’s OK that I share that here.

  99. Diane
    February 24th, 2010 at 19:59

    Jim and Lynn,

    Thanks Jim, I am doing well. I am seeing a PT for the next couple of weeks to help with some back problems. She has helped me before and is familiar with MD so is quite cautious. I was able to snow shoe twice last week for three hours. The first 20 minutes were the usual stop and go and then I was okay.

    Have you been to the hematologist yet? How is your recovery going after the “weight lifting” incident?

    Lynn, I hope you are getting some results to your tests. I did not mean for you to not pursue seeing what else was going on with you, such as McArdles, or something else. I just did not want you overlooking some thing simple to check which might also be going on. That was the case with me…if I hadn’t made an off hand comment to the doctor, I would still be blaming MD. Vit D deficiency, along with B12 can cause a host of problems, some of which can be major!! Hope you get some answers soon.

    Blessings,
    Diane

  100. Marcelo Argentina
    February 24th, 2010 at 03:52

    Hola, escribo nuevamente. Mi intervención anterior fue el 12 de Mayo de 2009 y ALBA lo tradujo al ingles el 28 de Junio.
    Queria comentarles que he enviado mi muestra de ADN a España. Un laboratorio esta trabajando con un raton modificado. Es un buen augurio, saber que alguien esta en busca de una solución para McArdle, aunque tal vez no sea para todos por igual.
    Si existe algun afectado en Argentina, me gustaria ponerme en contacto.
    La solución a McArdle esta en nosotros, mantegamos la Fe.
    Un abrazo

    Translate by google
    Hello, I write again. My previous speech was on May 12 2009 and ALBA translated it into English on June 28.
    I wanted to comment on them that I have sent my DNA sample to Spain. A laboratory is working with a modified mouse. It is a good omen, know someone is looking for a solution for McArdle, although perhaps not be for everyone.
    If there is any affected in Argentina, I would like to contact me.
    The solution to this McArdle in us, I encourage
    .
    A hug

  101. Jim Ottesen
    February 24th, 2010 at 02:25

    Diane,
    Great comments for Lynn. McArdle’s is blamed for a host of problems,
    but it can create lots of “things” that can confound even the doctors.
    As for me, whenever I see pain after muscle stress, early fatigue on
    exercise, lack of strength, unexplained high blood sugar, high CPK,
    excessive tiredness, unable to keep up while walking a distance, muscle
    pain or cramping for no apparent reason I feel one must see a neurologist to rule out McArdle’s Disease. Other related issues can be
    RLS, sleep apnea, high blood pressure and elevated liver enzymes.
    It is truly a very complicated disease as is apparent in the general
    lack of even knowing the name “McArdle’s Disease” by most of the doctors in America. And, a lack of knowing the essentials in the diagnosis and treatment of “M” in the medical community. It is sad.
    Lynn, please keep up the effort to find your answer – you deserve an
    answer after what you’ve been through.

    Diane, I’m hoping you are doing great. It is great to hear from you.
    God bless,
    Jim

  102. Diane
    February 23rd, 2010 at 22:07

    Lynn,

    I’ve been reading some of your correspondence. You spoke of energy problems. I too had this. I thought it was being caused by the McArdles. I mentioned it casually to my doctor and they ran blood tests for Vitamin D and B12. I was very deficient in both. I take a RX of 50,000 units of D every week, tapering off, hopefully to once a month. It has helped tremendously, along with sublingual B12. It is a simple blood test to run, and if not taken care of, VitD deficiency can cause major problems!!! It might be worth a shot, seeing if you have more than one thing going on. It seems with McArdles, we tend to blame everything on that, as I did. Thank goodness for my doctor’s forward thinking. Hope this helps, and hope you get some answers soon. I’ve known several people who have gone to Mayo for various things and have had good success. Good luck!

    God Bless, Diane

  103. Jerry Inguagiato
    February 23rd, 2010 at 18:50

    @Jim Ottesen
    Dear Jim,

    I’m a 66 year old male with McArdles. After my last blood test I found out that I had a high level of liver enzymes. Is this because of the McArdles?

  104. Jim Ottesen
    February 23rd, 2010 at 04:20

    Lynn,

    I would like to see the biopsy, but if it says you do have the myo
    in sufficient amounts, you do not likely have McArdle’s Disease. Your
    neuro can review this and give you his opinion. I can review, but not
    give you a diagnosis. No, if you do not have “M” in the muscle, you will
    not find “M” in the blood. If your doctor says the biopsy does rule
    out “M,” you do not need the genetic test for “M” so save the money for
    another test. Your doctor should have done this by now – why has this taken so long. I’m confused. Help me understand. You seem to feel you
    do have “M” – is that based on your symptoms or your doctor’s evaluation? If doubt exists, the genetics test will be conclusive as
    to “M” and we should move on to the next possibility. My concern is that
    if the biopsy is not clear, the genetic test will be. Your risk is that
    your doctor simply doesn’t know what you have a nd that is why he feels you should go to Mayo Clinic and I agree if they can do ALL the tests
    necessary to find our exactly what yoDo theu do have. Some of your biopsy sounds like mine (“non specific changes” which means very little). However, the renown Cleveland Clinic doctor treating me felt I had
    Mitochondria Myopathy – a bad dude – worse than “M” by a large degree.
    So, you see, I’m concerned about you. We must know for sure.
    If you want, send me a copy of the biopsy, or e-mail to jott440148@aol.com. In the meantime, let’s pursue an answer. Get your
    doctors best direction as to the genetics blood test. Call the Mayo Clinic as he suggested and make sure they can do all the tests.
    You deserve an accurate answer. Your life is involved.

    Let me know your thoughts.

    Jim

  105. Lynn
    February 22nd, 2010 at 22:48

    Jim, Thanks for the info. You inspired me! I went online and got the info from Emory, called my doc’s office, gave the info to the Med Ast. She printed it up as we spoke and is going to give it to my doctor the next day she comes in. I feel like I have the ball rolling on that one. They will have to order it now, I still need to double check coverage with my insurance.

    OK, so I have a question for you. I noticed on my biopsy they did check the myophosphorylase (McArdle’s) and it looks OK. So, does this completely rule out McArdle’s then? Or can it show up in blood and not in the muscle.

    Thanks.

  106. Jim Ottesen
    February 22nd, 2010 at 03:06

    Lynn,
    Good to hear back from you. My personal e-mail address is jott440148@aol.com and you can mail to my home address at: 8721
    Tompson Point Road, Port St. Lucie, Florida 34986.
    As to Mayo, before you go, you must call their Neurology Department,
    and simply ask if they are fully equipped to perform a biopsy of the
    thigh to remove muscle tissue and rule out McArdle’s Disease and any other such disease, including neuromuscular diseases like Mitochondria
    Myopathy. Further, can they perform the non-ischemic forearm test to
    rule out McArdle’s Disease and finally perform the genetic evaluations
    to define the glycogen storage or other possible mutations to diagnose
    your specific condition. I know they will want a referral, but this preliminary data will help make sure going there will not be a disappointment.
    The McArdle’s blood test is a genetic evaluation which can be ordered by
    your doctor from either Emory Genetics Laboratory (404-778-8499) or
    Athena Diagnostics (508-756-2886 or 1-800-394-4493). Your doctor simply
    tells them you want to confirm or rule out McArdle’s Disease and they
    will give him the code number for the test, then send a local rep to either your home or his office, draw the blood in a prescribed way and
    FedEx it for express delivery back to them for analysis. Really simple – one phone call does the trick, but your doctor (preferably neuro) must first make his best guess as to what you have (McArdles, we
    presume) so the correct test is ordered. It may or may not be covered by your insurance – mine was. That’s the easy way to define McArdle’s.
    The test is extremely accurate. That is not an issue! The insurance company is always clueless, your doctor must call one of the companies (I used Athena ), tell them what he wants, and pass the bill on to the insurance company to pay. You may have to pay up front and try to get reimbursed later by insurance, but you will know for sure if “M” is your issue.
    Yes, McArdle’s Disease is EASY to spot on a biopsy, but ONLY IF your doctor told them to RULE OUT McArdle’s Disease. If the Pathology Team went in looking for “X” – they might miss “M”. Demand they go back and rule out McArdle’s Disease. You either have the enzyme or you don’t.
    Jim

  107. Lynn
    February 21st, 2010 at 08:29

    Jim,

    Thanks for your suggestions. I am feeling quite overwhelmed with everything at this point. My baseline seems to be quite lower than it was before I got sick with the virus. If I do too much I’m in pain and end up back in bed.

    Anyway, I think I will call or email Mayo. I probably wouldn’t be able to get in until this spring by now anyway. The weather needs to be a little better before we travel. I guess I’m also afraid that we will go that far and come away with no answers. Although, deep in my heart I know something is terribly wrong with me.

    I did find my biopsy report and I can share it with you either privately or on this board. I’m open to sharing if it might help someone else. I’ve done some reading on biopsies and it seems as if they could have done more specific testing on mine. At this point, I’m worried that I actually have two illnesses; that really can muddy the diagnostic process even more. I seem to have such a problem with energy. A few things do seem more like mito to me. Back to the biopsy….should I just call me neuro and ask if we can have more testing done on the specimen?

    Can you give me the name of the McArdle’s blood test? My doctor wants me to have it done, but my insurance company seems to be clueless. Is that something that only one company handles (thinking Athena Labs)? I have the order for the blood test right now. Oh, do you know how accurate it is? Also, shouldn’t they have been able to find McArdle’s on my biopsy?

    I think I joined a group on Facebook. Is that the one you started? Maybe I’ll try to connect you through there.

    Thanks for your willingness to help.
    Lynn

  108. Jim Ottesen
    February 20th, 2010 at 21:59

    @Jim Ottesen
    Lynn,

    We haven’t heard back from you and I just wanted to see if you’ve
    gotten any news on the biopsy and what you felt about my suggestions.

    Thanks.

    Jim

  109. Jim Ottesen
    February 19th, 2010 at 14:18

    E.B.,

    You did it! You are on. We look forward to your postings. Beyond this
    assist, when you open McArdle’s Disease.org, look at the right column
    and when you see my name or another name, just click your cursor on the
    subject. After you finish writing, use your cursor to click on “Submit
    Comment” and you are done.

    Good luck! Have a great day!

    Jim

  110. E.B.McCall
    February 19th, 2010 at 12:20

    Since my contribution from an 84 year-old may offer some comfort to sufferers,what do I need to do to get it published on your blog.I don’t have a website.Can you e-mail me with an answer?

  111. Jim Ottesen
    February 19th, 2010 at 03:19

    Lynn,

    Frankly, it sounds like they messed up the biopsy. If enough tissue exists, see if they will accept it at Washington University for analysis, but first see if they can do the tissue analysis for McArdle’s Disease and/or other neuromuscular diseases. The cost would be minimal compared to another biopsy. Forget the Cleveland Clinic as
    my first biopsy there ended up like your first biopsy: “nonspecific changes…” That means NOTHING. The CoQ10 is good regardless of the
    disease (I take 100mg at least twice a day). I also suggest you take 100mg of B-6 with dinner and a good multi-vitamin.
    Mayo would be a good bet, but first call them to see if they have all of
    the staff, equipment, personnel to do a through neurological examination
    including genetic testing for McArdle’s disease, a muscle biopsy and
    pathology team to interpret and diagnose McArdle’s Disease (and any others), the non-ischemic forearm test (a must for you) and a neurologist for any requisite follow-up. If they can respond in an affirmative way, see if your doctor can arrange a referral ASAP. The only blood test for McArdle’s is in the form of a genetic evaluation through blood that is drawn or muscle tissue examination. Further, you should DEMAND that whomever did your biopsy, simply take the tissue and re-do the pathology – they owe you an answer – you paid them for that answer!!! That’s what I demanded – and got – from the Cleveland Clinic. Ok, if you want, you’ve got some homework – good luck!! Please stay
    in touch.
    This may be more help than you wanted, but it should be of some help.
    We’ll be hoping for some good news from you.
    Best regards,
    Jim

  112. Lynn
    February 18th, 2010 at 20:20

    Also, I’m not convinced my muscle biopsy was complete. I don’t think they checked it with the electron microscope (?)…they have saved some of my muscle tissue I’m wondering if I could have that checked?

  113. Lynn
    February 18th, 2010 at 20:16

    It’s been awhile since I’ve checked in…a lot has happened. I saw my neuro a few weeks ago. She said my muscle biopsy was not completely normal. While it didn’t point to a specific disease, it did show some nonspecific changes. I can’t find the report this minute, but it showed some atrophy and differences in fiber sizes. But, the report says these are minimal changes.

    My neuro wants me to go to the Mayo Clinic. But I’ve wondered if Cleveland Clinic may be better? I’m at a loss at what to do next. I am going to start on Coq10 soon. I had a nasty virus last week, which left me unable to walk for several days. I’m recovering, thankfully.

    My neuro wants me to have the blood test for McArdle’s and I called my insurance and they can’t find it in their listing. I believe it is new. I feel as if McArdle’s is a possibility, but I have so much pain. Is that common with McArdle’s? I do have more pain on exertion, shortness of breath on exertion, and even have trouble talking at times. It’s as if I’m out of energy. My neuro thinks if it’s not McArdle’s that it’s mito. That’s what’s got me thinking about Cleveland clinic. I’m about six hours from there. Also, about three hours from St. Louis. Does anyone know if Washington University is any good for patient care? I know they do a lot of research.

    Oh, I know there are some tests that I should have had done already. The ischemic testing, for one. My CPK has always been normal, but my neuro thinks if I have it tested during a flare up that it would be high.

    Thanks for any help.

  114. Terry Bishop
    February 17th, 2010 at 18:28

    I’m new to this site, just found it today. I’m a 47 year old male with McArdle’s. I was wondering if anyone knows if there’s a relationship between McArdle’s and high triglycerides. I work out twice a week with up to 30 lbs dumb bells. My triglycerides are always in the 400′s.

    Thanks.
    Terry.

  115. Diane
    February 14th, 2010 at 02:26

    Jim,
    Sorry to hear about the anemia and blood issue. My neighbor just went to a hematologist, and she was quite impressed. I hope you have good results…let us know. Also, my VitB12 came back better, and VitD has improved considerably. When they read the CPK results, they sent it back to be redone…I had to laugh! I was pleased with the results…only 600, but I haven’t been able to exercise because of my knees, hip, etc. The Doctor was concerned, and wants to retest in two months. Thanks for the suggestion. I should have been testing it all along.

    Hope you are on the mend…your right, the Doctors must love us, we keep them in business. Take care of yourself.

    God Bless,
    Diane

  116. Jim Ottesen
    February 13th, 2010 at 02:58

    @Diane
    Hi Diane,

    Well, as posted above, in a few weeks I’ll have a better idea of where
    I stand with diabetes – type II. At your suggestion, next time I have
    blood drawn, I will ask them to check my vitamins D and B-12.

    My latest concern is that one of the many blood tests showed anemia so
    I now have to see a hematologist on February 25th. I hope that is nothing of consequence. You and I have so many issues, I think the
    doctors must love us. But, we’re strong and fight on. The Lord helps
    a lot.

    My blessings to you.

    Jim

  117. Jim Ottesen
    February 13th, 2010 at 02:49

    Kathryn,

    Thanks. I’m convinced your Handbook will be a real eye-opener for
    the world to see. I know it will have a positive impact on all of
    us who deal daily with the trials and tribulations of McArdle’s Disease.

    After I see the endochrinologist in March, I will post any results or
    comments as to my possible type II diabetes. I’m keeping my fingers
    crossed.

    Jim

  118. Kathryn E Wright
    February 11th, 2010 at 17:18

    Hi Jim,

    The handbook will be available via the AGSD-UK website once finished. It will be available for people to download for free. I promise I will post a message everywhere (Facebook, here, GSDnet) when it is available.

    There does seem to be a relationship between McArdle’s and type II diabetes. There are about 3 published cases of McArdle’s people who have type II diabetes (also known as non insulin dependent diabetes mellitus). Normally insulin can act upon “channels” in the muscle cells, allowing the cells to take up glucose from the bloodstream. There is a paper called “Decreased insulin action in skeletal muscle
    from patients with McArdle’s disease” by Nielsen in 2002, which suggested that the high amount of glycogen in McArdle’s muscle cells might inhibit (stop) insulin being able to do this.
    Hopefully this link will work:
    http://ajpendo.physiology.org/cgi/content/abstract/282/6/E1267

    I *think* that this insulin resistance could lead to a feeling of low blood sugar levels, even though if they were measured, the blood sugar levels in the blood might be quite high.

    Kathryn

  119. Diane
    February 11th, 2010 at 03:41

    Jim,

    I don’t know about anemia, but I have very low VitD which acts like anemia with extreme fatigue….I take 50,000IU (RX) of VitD once a week. You might have that checked also. If you go online and read about this deficiency, it is quite severe for many people…mimmicking some of MD’s side effects. I have Vit B12 deficieny also(fatigue a byproduct of this too), taking 2500mcg sublingually, per day. Just some thoughts! Hope you can get this under control. We’re a mess, aren’t we?? We all appreciate your efforts for us, Jim…thanks!

    Blessings, Diane

  120. Jim Ottesen
    February 11th, 2010 at 03:15

    @Jim Ottesen
    Kathryn,

    You never call or write. Please just comment on my last posting to you -
    it would be helpful to all of us, but especially enlightening for me.
    NEWS FLASH: Today, my doctor called with a brand new “M” revelation.
    The other tests I mentioned to you earlier also revealed that I am anemic. Any studies or stats on that issue? If nothing on anything
    I’ve mentioned, please just respond “no data” and I will understand.
    Thanks for any response. I’ve tried to provide information to you for
    the “Handbook,” I hope you can at least let me know if I can buy one.
    Best regards,
    Jim

  121. Ruth
    February 10th, 2010 at 20:39

    @Stacey Reason
    Hi Stacey. I was diagnosed with McArdle’s in ’06. I also live in Ontario. I am now 52. It is nice to know you are not alone with this disease. I am so grateful for these postings.

  122. Jim Ottesen
    February 10th, 2010 at 04:02

    @Stacey Reason
    Stacey,

    Periodic updates are a good thing to do for those of us who have
    McArdle’s. “Stuff” we never expect seem to creep in and the sooner
    we detect them the better.
    From my earlier postings, You might consider Hemastix as a safety
    check if you ever suffer cloudy urine, muscle pain,or a feverish
    feeling. They can be an early warning signal to detect myoglobin
    before it goes too far.
    Best wishes,
    Jim

  123. Stacey Reason
    February 9th, 2010 at 17:22

    I have not had any problems thus far…but then again I haven’t had a FBS done in a long time…@Jim Ottesen

  124. Jim Ottesen
    February 8th, 2010 at 23:31

    @Kathryn E Wright
    Kathryn,

    It’s me again! I think the high blood surar has become a more serious
    issue for me. The glucose levels have always high, but not diabetic.
    Recently, I got hit with a 7,000 CPK reading and had a complete check
    of all major readings which not only revealed a high A1C (6.8)and
    glucose at 114 (has been as high as 141), but elevated liver enzymes
    at 224 (SGOT) and 99 SGPT). My greatest fear is that I could end up with the risks of diabetes and/or liver issues. Have you seen any stats
    on these possibilities? I just might be the next diabetes addition to
    the stats and my less than brilliant doctor told me I need to exercise
    more (just got over rhab) and watch my diet (everything I eat is sugar-free). I responded to your query on Facebook on “frustration” with some
    thoughts, but this takes the cake!
    By the way, I would like to buy, obtain, or whatever I must do to receive a copy of the Handbook when published — can you tell me how to do that or put me on some list to get one. The address is 8721 Tompson
    Point Road, Port St. Lucie, FL. 34986 (e-mail: jott440148@aol.com).
    As you know, I do all I can to help others with McArdle’s Disease through my postings on McArdle’s Disease.org and Facebook – McArdle’s
    Disease and your Handbook would help me to “bring to the table” the
    most recent thinking and research on the disease. Although I’ve lived
    with the disease 72 years, there is so much more I want to know and share. While I know you get paid for your efforts, I also know you do it as a labor of love and compassion and I thank you so very much for
    helping to unveil the secrets of the”Mystery Disease” – McArdle’s.
    Thanks for any responses to my concerns and keep those questions coming.
    Your “M” friend,
    Jim

  125. Diane
    February 8th, 2010 at 19:42

    Kathryn and Jim,

    As stated above, I seem to have low blood sugar. Whenever I am exercising for an exteded period, such as walking, hiking, skiing, I always carry raisins/and or peanut butter and crackers, or maybe a granola bar, along with water. When my energy drops, these usually revive me pretty fast. My brother does not seem to have any high blood sugar problems either.

    Jim…In answer to your question…I have my kidney function tested on a regular basis. Thanks for the “head’s up”….I’ll keep a close eye on it along with liver enzymes. The hemastix are a good idea, I’ll ask my doctor, and suggest it to my brother. Incidentally, when he had his first episode at the age of 16 in the 1950′s, he was lifting weights in gym class..he ended up in a wheelchair for almost a year….as I said, weights are a killer!!! Use with caution:)

    God Bless you back, Diane

  126. Kathryn E Wright
    February 8th, 2010 at 19:12

    McArdle’s and diabetes

    Hi all,
    I’m curious how many McArdle’s people have diabetes/pre-diabetes/low or high blood sugar? There are a few published cases in the literature of McArdle’s people who are insulin resistant – which is type II diabetes and results in high blood sugar. There is a suggestion that this could be because of the high level of stored glyogen in the muscles. I’m wondering if diabetes (high blood sugar levels) is quite common if you have McArdle’s…

    Kathryn

  127. Jim Ottesen
    February 8th, 2010 at 03:39

    @Diane
    Diane,
    Thank you very much for your kind thoughts!
    The “episode” was a bit of a shock and will force me to cut way back
    on my thoughts to become a “Superman” – instead I think I’m going to
    buy me one of those neat rocking chairs at Cracker Barrel. I now have three doctor appointments: My internist, urologist and cardiologist to
    make sure the “toxins” and stress are under control and that my kidneys
    are functioning properly. No more “leg lifts” for this cowboy.
    As to the glucose thing, I appreciate your thoughts. After I get through my current problem, I guess I’ll be off to an endocrinologist
    to deal with the sugar issue. With McArdle’s the problems never seem to
    just go away. By the way, when you get the blood tests, see if the doc
    will add a kidney function to the list and do a urine check for protein
    or blood as a safety check. Perhaps he will also do a script for the
    Hemastixs – that test is what warned me of the danger I was facing so I
    could take immediate action to protect my kidneys.
    I’ll pray for good results on all your tests. God Bless, Jim tests.

  128. Diane
    February 7th, 2010 at 20:40

    Jim,
    Regardng high glucose levels and diabetes…I know that my sugar levels are more on the hypo side than the hyper side. I don’t know whether MD affects the incidence of diabetes or not…just that my glucose levels are on the low side.

    Also, am having blood tested this week for Vit D, B12 and CPK. I have not had my CPK checked in years, and decided it would be a good idea!!!Thanks for the suggestion. I will check it on a regular basis.

    So sorry to hear about your “episode”…weights are a killer!!! Take care of yourself. I always find that after a large “episode” it affects my stomach and I eat a lot differently….very “easy on the tummy” foods! I think the toxins must build up in our system after one of these bouts. When my brother had a major episode in the 50′s at the age of 16, he ended up in a wheelchair for almost a year and told he also had an ulcer, eating baby food for many months as a result. Of course, no one knew what he had at the time. After my first major episode, I called him and told him he did not have an ulcer, but it was a by product, I thought, of the toxins due to the “stress” on the body from the myoglobinuria, etc. Just some thoughts for those who might have the same reaction. Hope you are doing better soon.

    God Bless,
    Diane

  129. Jim Ottesen
    February 7th, 2010 at 20:11

    Stacey,
    I noted the insulin and sugar issues Brenda mentioned and wonder if they bother you in any way. I try to avoid sugar as much as possible,
    but my glucose is always at the hign end of the scale. I’m certain
    there is a relationship to McArdle’s, but I’m going to see an endocrinologist to see how I vcan control the problem. I want to avoid
    diabetes at any cost.
    My most recent issue was with myoglobinuria as a result of taking an
    exercise class which included leg lifts while sitting in a chair. By
    the end of the day, the pain was great, my Hemastix reading topped the
    chart, and CPK had jumped to 7,000. It is so discouraging. You know
    exercise is essential to the body, but clearly I must be more cautious.
    Best regards,
    Jim

  130. Stacey Reason
    February 6th, 2010 at 22:38

    Hi Brenda…I was diagnosed in 07 with McArdles. I too live in ON. Forums like these are great to connecting with others and better learning how to manage this disease.

    Cheers,

    @Brenda Krushnisky

  131. Carla
    February 5th, 2010 at 06:47

    Also, is there a way to skip the older posts to get to the current year 2010. Scrolling through 200 posts takes time to get down to the most current posts and our concerns. Thankyou , Carla

  132. Carla
    February 4th, 2010 at 23:37

    Hello,
    I would like input about handling prolonged muscle spasms.
    I usually recover from an episode in a few days with rest and muscle relaxers. My latest episode has lasted four weeks with entraped nerves causing pain, swelling in thigh and calf with loss of feeling in foot.
    Symptoms are augumented by degenerative spinal discs.
    Main questions…1) muscles spasm relief
    2) does the alert about anesthetics apply to muscle
    relaxers such as cyclobenazpr
    Just found this site and recognize so many of the experiences.
    As a child Dad used to say “go as far as you can, rest, and then go some more.”
    This is still a montra I say just doing house chores, shopping, going to church.
    Just a word of encouragement.
    In 1982, I was told that I would be bedridden in five years.
    I taught school 18 more years after that.
    I did retire early, but stay busy at “Carla’s” pace volunteering in my community…..AND am not bedridden!!
    So breakdown all activites and persevere.
    Thank you for suggestions on the prolonged muscle spasm,
    Carla

  133. Desla
    February 3rd, 2010 at 19:13

    @Alex
    hello my husband found out he had McArdles when he was 19 he will be 48 next month all you guys out there your in for a rough ride. the more you work out the more muscle your destorying. he can walk but not very far.im not saying to stop but think how youll be at 48 i see the pain hes in and there isnt anything you can do. Winter weather is very bad for him if he gets too cold he can slip into a coma and possibly die from the cold. so everyone out there find out everything you can about this. Not many people know about this Disease.

  134. Jim Ottesen
    February 2nd, 2010 at 02:26

    Hi Folks,

    Today I saw the movie I mentioned a few weeks ago called Extroadinary
    Measures. It is the story of a father trying to save two of his
    children from Pompe Disease – a glycogen storage disease – around since
    1932. Up until recently, there was no cure and an early death was
    the prognosis. I enjoyed the plot, suffered the tears and almost cheered the triumphant ending. Since ours is also a glycogen storage
    disease, it is a film you will find interesting and entertaining. The
    thought that “There go I, but for the grace of God,” stayed with me for
    much of the movie. In our case, we still wait for the Harrison Ford
    character to come along and bring us the cure we seek.
    Jim

  135. Kathryn Price
    January 29th, 2010 at 02:05

    My ten year old son has been experiencing exercise intolerance for years. He has been unable to run like other children and has no endurance. A lot of times he will vomit when he gets exhausted from playing baseball, football, or even p.e. at school. Usually, when he gets to this point, he has a severe headache. We are currently seeing a neurologist and he is in the process of sending us for a muscle biopsy to test for metabolic myopathy. One of the neurologist we saw mentioned McArdle’s Disease so I have been doing some research. I have known for several years now that something was different about my son when it came to sports or any type of exertion. He even has difficulty walking up stairs. I am curious about how many of you have vomitting and headaches after exertion.

  136. Jim Ottesen
    January 24th, 2010 at 23:08

    To all my “M” friends,

    Just got word of my uncle’s passing, so I’m on my way tomorrow to
    Biloxi, MS. and will be gone through Friday.

    I mention this so Judy and others I communicate with will know
    my absence is temporary.

    Have a great week!

    Jim

  137. Jim Ottesen
    January 23rd, 2010 at 03:51

    @judy nulik
    Judy,

    It seems I somehow missed your posting. The greens formula I have used
    is “Green’s FIRST” which I purchase from 866-410-1818 (Doctors for
    Nutrition, Inc – http://www.DoctorsForNutrition.com) It seems to help me a lot, but follow the directions as to refrigeration and dose.

    I also suggest you have Brian take B-6 (to 100 mg) and L-Carnitine (to
    500 mg). You should ask your doctor to prescribe Hemasticks so Brian
    can check for blood in the urine. The CK should be checked whenever
    too much pain exists and quarterly to protect the kidneys.

    Let me hear from you. I’m sorry about not getting back to you sooner,
    but I was out of town for a time around the holidays.

    I wish you and your son good health.

    Jim

  138. Jim Ottesen
    January 21st, 2010 at 22:26

    Jim,

    Sorry you’re having so much pain, but would like encourage you to
    watch your CK, take a good multi-vitamin, do a greens formula, add
    some protein, buy some sour cherry drops and check with a cardiologist
    on the issue of your statins (remember COq10). Often, out of a lot
    of strange ideas, a light goes on and works for you. That’s my hope
    in your case. You deserve a break from the pain – keep fighting with
    your doctors and don’t give up hope. Very best wishes, Jim and the “M”er’s

  139. Jim Buchanan
    January 21st, 2010 at 19:27

    All,
    Thank you for your comments and help. I have had this latest bout with muscle weakness since Thanksgiving. I went to 2 Neurologist, one looked at me as a curiosity and other is aware of McArdles. I am now on Fentanyl for pain and will start PT next week.

    I am going to mention Fenofibrate to my Endocrinologist. I have stayed away from processed sugars for many years and don’t use sugar regularly. I exercised, walking, up until Thanksgiving and miss it. Interesting that some of the stories talk about ways we all avoid being noticed, stopping to tie shoelaces, etc. I became a birdwatcher years ago. It’s a great hobby and you can walk at your own pace. Unfortunately like some others, I think I also overdid it when I was younger. I biked regularly, swam a few times a week and was a avid hiker, camper. I pushed myself to no avail and probably did more harm than good. I remember cola-colored urine when I was about 9 or 10, so it’s been with me for many years.

    Glad I found this website

  140. Ross
    January 20th, 2010 at 10:13

    Jim Buchanan,
    My doctor never prescribed any statins to me for my high triglycerides because we knew of the dangers with McArdles, but he did prescribe Triglyde which is a med that targets just triglycerides. I now take a generic form of the med which is called fenofibrate 134mg which has been very effective. This and staying away from false (corn syrup and high fructose corn syrup) and refined sugars will reduce your trigliceride levels significantly. excessive sugar such as soda and sugary snacks will cause high triglyceride levels. @Jim Buchanan

  141. Jim Ottesen
    January 19th, 2010 at 19:35

    Sonia,

    I’m glad you’re doing so well! You are smart: You are controlling the
    disease instead of letting it control you. Be sure to drink lots of water when you do exercise, take your B-6 vitamin (to a max of 100mg)
    and eat healthy.

    Have a safe trip to Oswestry and please share with us the results of your visit. We can never seem to know all we need to know about the
    bad “M” disease. I’m curious if they have added any amino acids, levels
    of protein versus carbs, supplements – or whatever – to improve our
    strength and energy to fight “M” in the most effective manner.

    Continued good health and happiness to you. Jim

  142. Sonia Worthy
    January 19th, 2010 at 15:57

    Kathryn and Jim

    Thanks for your comments its really good to hear from people that understand. I do stop any exercise as soon as I feel my muscles stiffen and now seem to have a lot less pain. I am off to Oswestry tomorrow with a list of questions

  143. Jim Ottesen
    January 17th, 2010 at 03:28

    Jim,
    Sorry to hear of your serious issues. Yes, McArdle’s Disease can
    complicate many disease issues. You really need a good neurologist
    and internist to properly deal with your problems. Perhaps you need to
    ask you doctor to consider your current reading and to consider
    newer meds without the side issue of pain, to review the possibility
    of reductions in the levels you take or the elimination one of the meds.
    Do you take COq10? It has been of value in some instances. Do you
    exercise at all? How long have you been unable to walk? Statin drugs
    should not help your CPK go down, but may be of value with triglycerides.
    I am not a doctor, but from what you have posted, I think you need a
    second opinion from a highly qualified internist or cardiologist to
    determine your best course of action. How high is your CPK? Any urine
    in the blood? Your neurologist is fine for the muscle pain and keeping
    an eye on treatment for your McArdle’s, but I think you need a specialist for your other problems. My triglycerides are normal,
    my CPK is high, but statins for me is not indicated. Let us know what
    action you take. Best of luck to you.

  144. Jim Buchanan
    January 15th, 2010 at 16:35

    I am 58 and diagnosed 2 years ago. My brother was diagnosed 12 years ago. I did not know what this disease was until I mentioned it to a doctor. I had been on statin drugs for high triglycerides and had high CpK levels that did not go down. I had a muscle biopsy that confirmed the disease. I always had a problem with exercise, similar to other stories I read here. Right now I am having a great deal of difficulty with the side-effects of Zetia and Niaspan. I took Zetia for 2 years, also to reduce triglycerides and cholesterol. My cholesterol levels are normal; 200-214 but the doctor put me on Zetia to lower it. The problem for both Zetia and Niaspan is the muscle and joint pain. I experienced pain for a long time and attributed this to McArdle’s. I am seeing a neurologist for the pain. I believe that McArdle’s complicates this and makes the muscle pain worse. My question to anyone is; what levels of Triglycerides have you experienced with McAdle’s? I have had eleveated Triglycerides for 25-30 years with the borderline high cholesterol yet my heart is healthy.

    I walk on a regular basis but cannot walk at the moment.

    Genetically we inherit the gene from both parents and there is a 1 in 4 chance of getting it. There are 10 children in our family, so we follow the statistics well!

  145. Diane
    January 15th, 2010 at 02:44

    Kathryn, p.s. I googled it…very interesting, and very worthwhile info. Thanks again…..Diane

  146. Diane
    January 15th, 2010 at 00:54

    Kathryn,
    thank you for your input on the malignant hyperthermia. I was unaware of this. I have had several surgeries in the past, and whenever I do, I always tell them I have McArdles. The one thing that I did know was not to be tourniqueted during exercise, I wondered if that also applied to surgery? I have had two surgeries already on my one knee, and one anesthesioligist, I know, would not allow me to be tourniqueted. I think this would be important to know before having a knee replacement, or any other type of surgery where a tourniquet might be necessary. I did speak with Dr. Slonim about this on the phone (I have not seen him in person) and he said that if I decided to have my knee replaced, he would speak with the surgeon. I thought that was most kind of him. We are all out here depending on info from one another to help answer lifelong questions. I am very fortunate in that my brother too has McArdles and we have been a good sounding board for one another. Thank you for your interest, and the alert about malignant hyperthermia. I know what hyperthermia is, but have never heard of malignant hyperthermia. Can you explain, or reference this for me?

    Best regards, Diane Gaasch

  147. Brenda Krushnisky
    January 14th, 2010 at 20:03

    @Kathryn Wright
    Hi Kathryn,
    Thanks for the reply,
    I will have to investigate this paper and see what they say. I have not heard anything yet about having both, I myself would think they are connected, but according to my Endocrinologist, they are different channelling diseases. One thing I have noticed is that any extra sugar in my system gets robbed by my muscles whenever I walk, so I always have to make sure to take candy and drink a sugar drink before, which I really hate! As a child I remember having episodes of low blood sugar on some occasions.
    In regards to information about McArdles in general, it is still considered a rare disease here in Canada and there has not been a lot of studies or interest put into the field. I would love to find out more about the two diseases myself and a connection, but really do not know where to start to look. One thing I did find out about McArdles here in Canada is that the majority of sufferers are born in Newfoundland, New Brunswick and Quebec.
    Thanks Kathryn.

  148. Kathryn Wright
    January 14th, 2010 at 16:37

    Dear Diane and any McArdle patients who might have surgery/general anaesthetic,

    Don’t forget to make sure that your surgeon and anaethetist know that you have McArdle disease. McArdle patients seem to be at an increased risk of malignant hyperthermia, which can be a side effect of some muscle relaxants (and could be life-threatening). If you remind them and make sure they know about McArdle disease and also about malignant hyperthermia, then they can avoid the risky drugs, and take special care during the operation. I *think* that this is only a risk with some of the drugs which are used, and can be reduced/avoided by using different drugs.
    Kathryn

  149. Kathryn Wright
    January 14th, 2010 at 16:27

    Dear Brenda,

    I am curious how McArdle disease and diabetes interact. There was a paper written by Nielsen et al. in 2002 which suggested that the very high levels of glycogen in the muscle cells of McArdle patients may make them more insulin resistant that people who don’t have McArdle disease. (These studies were performed on McArdle patients and unaffected people who did not have diabetes.) In theory I think that the outcome of this would be that a person with diabetes with McArdle disease might need a higher dose of insulin (either more insulin or more regular doses) than a diabetic person who does not have McArdle disease. But I don’t know if anyone has ever investigated to see if this actually is the case.
    Kathryn

  150. Brenda Krushnisky
    January 14th, 2010 at 14:54

    Hello from Canada,
    I am a 45 year old female from Ontario Canada, and I have been diagnosed with McArdles 9 years ago. Yes, I suffered all through childhood with episodes, but was told that I was lazy, and I actually believed that for most of my life. I still tried to be active with my peers, bike-riding, soccer, swimming, running, and climbing hills. I always had to stop because my legs felt like they each weighed 500 lbs, and if anyone even breathed on me when I felt like that, I would not have the strength to hold myself up from falling down. So I just kept on trying, and decided in my 30′s that I was going to get fit, so I joined a fitness club, and lifted weights and did cardio every morning for about 1.5 hours daily. So needless to say, I was in constant pain, with black urine and very painful muscles. I had always heard “No Pain, No Gain”, and figured that I must be getting really fit. I could not increase the weight or activity level after 1 and 1/2 years of this, and started to have really severe chest pains one morning, which I thought was a heart attack. I was lucky enough to have a CPK level done which was well over 40,000, and was sent to emergency and stayed in for 4 days until my CPK was at 1800, through intravenous fluids. I had a muscle biopsy done 1 month later, and within 4 days, started seeing a Neurologist. 3 years later I was diagnosed with Type 1 Diabetes, which has really made controlling the McArdles a lot harder, but one thing I have come to realise is that when I walk, I start out slowly and then towards the end of my journey, I really book it and walk as fast and I can to raise my heart rate, and for the most part do not get tired as I have already gone through my break down, and the second wind is working. Could anyone who has diabetes with McArdles please reply, or if you know someone, I would love to hear from them. Thank you.

  151. Jim Ottesen
    January 13th, 2010 at 23:58

    Dear Kathryn
    I am so very thankful for your comments in helping me to better understand enzyme replacement therapy. It is also the perfect time
    to thank you for the research you have done to develop help for those
    of us who suffer from McArdle’s Disease. The concept of ERT is
    something we hear of from time to time, but only in a vague, distant
    kind of way. Wishful thinking and lack of knowledge led me to hope that
    information gleaned from the Pompe effort might be of some value to us,
    but your factual information gives us understanding that it is not yet
    our time. I recognize your name as one I responded to in a recent request for factual information for your research report. I wish you
    great success with that effort and hope you will feel free to call on
    me if I can help in any way.(jott440148@aol.com)
    I was fortunate to have been diagnosed by Dr. Haller of Dallas, Texas
    and his suggestions have been very helpful to me. My guess is that you
    know of his work. Keep up your good work, we need all of the research
    contemplated to remove the “Mystery Disease” name from McArdle’s Disease.
    Thanks again!
    Jim

  152. Kathryn Wright
    January 13th, 2010 at 18:08

    Dear Jim,
    The film with Harrison Ford is about enzyme replacement therapy (ERT) to treat Pompe disease. Unfortunately I don’t think that this would work as a treatment for McArdle disease. At the moment ERT is only used to treat lysosomal storage diseases. ERT works by injecting the enzyme into the bloodstream. It is then taken up by the cells. Anything which the cells take up are usually put into the lysosome, where they are broken down into smaller parts for reuse. ERT works for lysosomal storage diseases becuase the enzyme is taken into the lysosome – exactly the place it is needed. This wouldn’t work for McArdle disease as the enzyme is needed in a different place; the cytoplasm/sarcoplasm. (Please note: the enzyme needed in Pompe disease is different to the one needed in McArdle disease.) At the moment, no-one has found a way to make the enzyme be taken up by the cell and put into the cytoplasm. However, if a method could be found, this could be a possible treatment for McArdle disease. I am not aware of any scientists working on this as a treatment for McArdle disease at the moment, probably for the reasons I’ve just outlined.
    Hope that helps,
    Kathryn Wright (scientist working on McArdle disease)

  153. Kathryn Wright
    January 13th, 2010 at 17:52

    Dear Sonia,

    Dr Ros Quinlivan and the team in Oswestry,UK, are wonderful. You usually get 20-30 minutes to talk to Dr Quinlivan (or sometimes more depending on how much you need to discuss), and you also get to see the exercise physiologist and dietitian. There is more info about the clinic on the AGSD website (http://www.agsd.org.uk/) and other people to contact – like the Type V coordinator, who goes to the clinic regularly. There are usually other McArdle patients at the clinic to meet and compare notes with. I attended the clinic a couple of times as an observer (I was doing scientific research into Mcardle disease at the time), and thought it was fantastic.

    Kathryn Wright

  154. Ruth
    January 13th, 2010 at 12:39

    Hi all. The movie Jim was referring to is called “Extraordinary Measures”

  155. Diane
    January 11th, 2010 at 23:28

    Ruth, I just found this site, and want you to know I am having knee problems too. I am a McArdle’s patient and posted on another site in the McArdle’s website earlier under “Realistic Treatment for McArdle’s”.
    You will find it under “recent posts”. Anyway, I am 62 and am in need of a knee replacement. I have been told for the last many years that I was too young and that I needed to wait. Well, I have waited and as a result, I am now not able to exercise because of my knee(s). This makes the McArdles worse….not exercising. I am trying to find someone who has McArdle’s and has undergone a knee replacement. Your quadracep muscle has to be cut when you have this surgery, and that doesn’t sound like a good idea for a McArdle’s patient. I spoke with Dr. Slonim and he was unsure of the outcome as well. I guess I might be the “test case”. I know this is not encouraging, but you are doing great, losing weight and continuing to exercise is the best for you right now.
    Good luck. Diane G.

    @Ruth McKellar

  156. Jim Ottesen
    January 11th, 2010 at 03:54

    To all our “M” friends:
    There is a movie we might like to see that will hit the movie screens
    around January22nd. It stars Harrison Ford and is the story of a father
    facing the reality of a serious neuromuscular disease, similiar in some
    respects to McArdle’s Disease, but much more serious. It reflects the
    father’s anguish, frustration and fierce determination to do everything
    possible to help the two of his chilren afflicted with the disease (Pompe Disease). It is a story we can easily relate to as the disease
    is caused by a deficiency in the enzyme that breaks down glycogen (sound
    familiar). MDA was a partner that worked with the father to seek a cure, but I will stop here so as not to take away from the suspense of the drama. Since I have not seen the movie (a trus story), my speculations are: Could we somehow get this father to look at our disease and 2) Has the research done on a cure or treatment for Pompe
    Disease been reviewed for any application for McArdle’s Disease. Not
    likely, but there is always hope.
    By the way, this movie was reviewed in Quest, the official publication
    for the MDA. It is published quarterly and offers progress being made on
    reaserch and treatment of neuromuscular diseases – including McArdle’s.
    The cost is $15 in the US and the phone number is (520)529-2000. I support the MDA, Jerry’s Kids and the wonderful work they do on diseases
    that seem to fall between the cracks.
    Have a great day!
    Jim

  157. Kathryn E Wright
    January 8th, 2010 at 14:02

    Dear McArdle patients,

    My name is Kathryn, and I am a scientist based in the UK. I was recently working on a PhD project to create cell models of McArdle disease, with funding from AGSD (UK). During the project I read a lot of the papers, and was aware that they are often in complex scientific language which it is hard for non-scientists to understand. I am about to begin a two month project to write a guide/handbook on McArdle disease in laymans terms so that I can “translate” the science into clear English. I will be working on this project from January to March 2010, on behalf of AGSD (UK), funded by Vodafone World of Difference UK. (It will be published on the AGSD (UK) website once it is finished.) I would like suggestions on topics to cover and things which McArdle patients find difficult to understand – for example medical terms which you don’t understand. Please send me suggestions via the McArdle facebook group or my own facebook page (see website link).
    Thanks!

  158. Jim Ottesen
    January 8th, 2010 at 04:07

    @Sonia Worthy
    Sonia,
    I’m 72 and I was diagnosed just two years ago. I understand your frustrations and many of your feelings. I tried walking with friends
    until my slow pace embarassed me too much. I never told them, but should
    have. We have a disease and seem normal so why can’t we do better? Well, folks simply need to be told we have a muscle disease that slows
    us down. I’ve done that and most seem to understand. We must never stress our muscles to please others as acute kidney failure could result. Please read my postings on food, vitamins and supplements. Our
    doctors often let us down, but we have a responsibility to learn as much as we can to live the best quality of life possible. My best wishes
    to you. I hope you can find a good explanation of your disease on the
    computer to share with your husband so he will understand. He is no different from any one else, they simply can’t understand that a normal
    looking person can have very abnormal muscle conditions. I call McArdle’s Disease the Mystery Disease and intend to do all I can to help
    the world understand our unique plight. Be well, my friend. God bless you. Jim

  159. Jim Ottesen
    January 8th, 2010 at 03:47

    Sue,
    Myfind heart goes out to you. Clearly, you must get an answer to your questions – and, the sooner, the better. I worry about your kidneys
    with such high CPK reading so please be careful. Do NOT over stress
    your muscles by too much lifting, too much strenuous exercise and
    too much work. Drink lots of water, read some of my postings as to
    food, vitamins and supplements. Dr. Haller is great, but faces too much
    demand and you need someone who can help you now. What state are you
    in? Maybe we can find a great neurologist for you. Remember, most
    doctors don’t care about McArdle’s Disease because they don’t understand
    it. MDA is a great resource – give them a call in their closest proximity to you. They might have a good neurologist not too far away.
    If you speak to Dr. Haller’s office again, mention my name and that I referred you to him because of my concern. Be aware, however, that he
    just might want to do a needle biopsy to rule out something worse than
    McArdle’s Disease. Good luck! Let us know what happens. We care. Jim

  160. Sue
    January 7th, 2010 at 16:28

    Ruth and Jim,

    Thanks for your responses. After hearing all of the horror stories on here about the muscle biopsy and the fact that it won’t really change anything as far as treatment goes since there is no cure, I will probably push for the ischemic forearm test or possibly genetic testing. As far as my neurologist goes (whom I have seen one time and never plan to see again), he stated that he had no doubts that I had McArdles disease. He based this on the lifelong symptoms of muscle cramping and weakness, elevated CPK (over 30,000), episodes of cola colored urine and a sibling with positive muscle biopsy for McArdles. He is affiliated with MDA in Arlington, Texas. He also doesn’t seem to have any interest whatsoever in McArdles disease. Even so, I still plan to have my internist fax my records to Dr. Haller’s office because I would like to speak with a physician who is knowledgeable with McArdles for once. It is my understanding though after talking with Dr. Haller’s office that he is currently doing a lot of research and isn’t readily available for appointments so I may be waiting a while.

    Thanks again for your input. I really am glad to have found this site. It does help to have other people who know how you feel and be able to share with each other.

    Sue

  161. Ruth McKellar
    January 6th, 2010 at 18:14

    @Bebe
    Bebe, it is a good idea to ask your family doctor to refer you to a neurologist for further testing. They know more about this disease than our family doctors know and will perform the proper tests on you. My neurologist actually heads the research team for McArdle’s Disease. She is in London Ontario Canada. I have been with her for 3 years now. She sent me to a geneticist as well. They are testing my blood to find the genes. They have isolated 1 so far.
    Hope you get some answers soon.
    Ruth

  162. Ruth McKellar
    January 6th, 2010 at 17:58

    @Ruth McKellar
    Sue.

    Do make sure, as the Site Admin said, to speak to your neurologist before insisting on a biopsy. There are a couple of other tests they can do as well. The biopsy is the best way to get a definite answer but the others can help with that too. Hope all goes well for you.
    Ruth

  163. Ruth McKellar
    January 6th, 2010 at 17:55

    @Lynn
    When I had my biopsy in July of ’06, aside from the normal numbness around the scar, I have no trouble with any numbness anywhere else on the leg.
    Ruth

  164. Jim Ottesen
    January 5th, 2010 at 23:51

    @Lynn
    Lynn,
    Please let us hear how you are doing when you get a chance -
    we are concerned about your condition.
    Jim

  165. Jim Ottesen
    January 5th, 2010 at 23:46

    @Ruth McKellar
    Ruth,
    You are doing great! By eating, drinking, exercising and supplementing
    correctly, you will enjoy a very good qualiy of life. Obviously,
    we must always be able to say “no” to any situation that might stress
    our muscles and set us back. You are right on trying to keep the CPK close to normal – it’s almost impossible, but remember if we forget
    to try, and make a mistake and it soars, we get too close to a hospital
    visit. As the Site Admin suggests, our disease is manageable, but we
    must always do what is needed to protect ourselves from danger.
    Keep up your great work! Jim Ottesen

  166. Sonia Worthy
    January 5th, 2010 at 18:15

    I am 62 years old and have only just been diagnosed with McArdle’s. I have felt a tremendous sense of relief as it has answered loads of questions. I wish I had found out a lot earlier as I had a miserable time at school and all my life had been making excuses to avoid walking up hills or steps. My husband is very fit and always walks everywhere at a fast pace and was always getting very impatient with me. We would often go out and he would walk off refusing to wait for me. I think he must be feeling guilty. I have always tried not to mention too much about my problems to friends and I now find it hard to explain the symptons which Ihave not mentioned to them before. I suppose I have not yet come to terms with the disease and feel that it is unusual to have such a late diagnosis.
    I am under a consultant at Sheffield Hallamshire hospital and have an appointment at a clinic in Oswestry. Has anyone else in the UK been to Oswestry – and was it useful? My consultant, whilst very helpful when I was diagnosed can tell me little about the disease. I read about the Oswestry Clinic via google and my GP referred me

  167. Site Admin
    January 5th, 2010 at 17:36

    Anyone considering biopsy should first ask your doctor to rule out McArdle’s disease with blood work. By measuring serum CK and using the ischemic forearm test to measure controlled blood lactate production, they can get a very good idea whether or not you are metabolizing muscle glycogen properly. Those numbers, coupled with informed observations about your life and symptoms, are close to a smoking gun. Not conclusive but certainly good indicators.

    The muscle biopsy can tell you conclusively if you’re capable of metabolizing glycogen, but since there’s currently no specific medical treatment available for the condition, the information obtained from a biopsy may not offset the discomfort of the procedure. I’ll post more on this in a more visible location of the website.

  168. Ruth McKellar
    January 5th, 2010 at 17:19

    @Sue
    Hi Sue
    Yes I definitely recommend you get the muscle biopsy. It is better that you have a definite diagnosis. I have been given a letter of protocol that I keep with me, in my purse, at all times and I keep one in the glovebox in my van, in case of emergencies. It is there so that if I am in the ER or in an accident, the doctors will know what they can do to help me, if it is Rhabdo that I am suffering from. That is when the urine goes cola like in colour.
    I also suffer from a lot of muscle pain, even doing something as simple as wringing out a cloth. It is so annoying at times. I helped my husband bring something down into our basement and suffered from muscle spasms in my forearma and shoulders for a few days.
    But do get that muscle biopsy.
    Good luck to you,
    Ruth

  169. Ruth McKellar
    January 5th, 2010 at 16:52

    @Jim Ottesen
    Hi Jim
    I get my CPK level checked every month. Dec/09 was 854. I have to go in again soon to get it tested. Hopefully it is not that high this month. I too drink 8 glasses of water every day, eat lots of fruit and vegetables, the recommended amount of protein is in my diet. I also take centrum multi-vitamins and calcium with vit D every day. I use a gazelle for a few minutes each day just to keep my legs mobile. Good job on trying to keep CPK down near normal.

    Good luck to you
    Ruth

  170. Pam
    January 4th, 2010 at 05:17

    I came upon this wonderful website over a week ago while doing a general search for glucose issues, etc when I saw ‘McArdle’s’ come up. My cousin’s son was diagnosed over 2 years ago, and I think about him often -all he has been through and will continue to go through :( . And I feel for everyone here. My cousin and I did internet searched back then and there wasn’t much @McArdle’s then.

    Last I spoke with her, she did mention trying a special diet for her son. This has been so traumatic for the family and my little cousin’s condition is severe -with the possibility that he may be wheelchair-bound by the time he’s 16 (he’s 14/15 now).

    It’s been interesting to learn more about McArdle’s and I have a better understanding of what my little cousin is going through.

    One thing I keep pushing out of my mind…is that I may also have this. But I didn’t come here for myself and although several symptoms, etc., fit too well, other things don’t. And I don’t want to upset anyone in the family and regret sending an email to my cousin to ask if she thinks I should be tested (because I’ve had adrenal dysfunction w/hypoglycemia…is all I mentioned) and she never responded.

    I’ve been scared since reading about a lot of things that have happened to me. The slowest one in gym class (until I was a teen so I think hormones and a good diet and vitamins helped). But when I was 15 and traveled to Florida for the 1st time (with a drill team to perform @Disney), I couldn’t get out of bed the 1st morning (or the 2nd, 3rd or 4th). My back hurt so bad and I couldn’t move.

    My chaperones called in a doctor and all I recall that he said (this was over 30 years ago) was that it was from the humidity affecting my kidneys (and is why my back hurt). I don’t recall the condition or color of my urine and have never had many issues with the color and never had a urinary tract infection either. This past year or so however, it’s been greenish at times…which I think is from the dye in my vitamins.

    I rarely had sore muscles and only occaisional ‘pulls’ until my early 20′s. My shoulders, mainly. In my mid-20′s, I tore the ligaments, tendons and muscles from my hips to knees while playing softball…running to 1st base. My manager yelled at me for not warming up properly (I had done my usual).

    I could never run fast or long. I did work REALLY hard and until my mid-30′s…I walked everyday and played a sport everyday. I also was in college and walked around campus (hills too), ran up and down stairs.

    Despite being in the best shape I could possibly be in, I was always slower than other people who were physically fit. Always. the “2nd wind phenomena” – I know all too well so I relate to that totally.

    But the past several years…no matter how hard I try I just keep getting worse. I did have a totaly hip replacement 4 years ago and that helped a little.

    Standing hurts (my legs and back) the most and sometimes I walk fine, other times not. I can walk a mile+ and feel good -but may struggle getting back (and have to get the 2nd wind, etc). A mile is about my limit on a good day.

    Even though I rarely get sore muscles (in fact, seems like there are times when I should but don’t) but I do get horrible cramps in my hands, legs, ankles and feet. And I get bouts where I get painful spasms, mostly below the knee (and in both legs). Sometimes my thighs and lower arms too. I’ve had them this week for 3-4 days now. Very painful last night (they’re not shin splints). 2x’s (years ago) I had them while actually in my docs office and he felt them (they can be seen too) and didn’t know what to make of them.

    My thoughts are -with my continued and weakening…is that the adrenal issues, hypoglycemia (which is better) and hormone changes (post-menopausal) is causing the symptoms that seem to be similar to McArdles in some respects. I did have a recent creat. level which was normal (.7)..and assume this is the same as a CPK?

    The doc who diagnosed me with the adrenal dysfunction (and chronic low DHEA) wanted me to follow-up with my endocrinologist. Who is useless since I’ve been complaining about a rapid heartrate and palpatations for years now and all he ever said was that it’s not my thyroid. I did follow up with him and he order bloodwork to check my a.m. cortisol (was abnormal low…he said that was ok) and then my p.m. cortiosl came back abnormal high…he said that was ok). So obviously- unless all of my levels are very low or very high, he’s calling this normal.

    After I explained to my GYN that I was havig trouble eating (not hungry and got confused, etc., when I went too long without eating) and he said that’s hypoglycemia. So I had my family doc check my glucose level and it was abnormal low. The nurse in my endocrinologist’s office said this level was ok (it’s wasn’t terribly low…but I was no longer going days without eating then).

    The day I had the glucose level checked…my blood pressure (which is always low) was VERY low. But my doc didn’t think it was an issue.

    My GYN wanted me to follow-up with the endo to find out what is causing all this.

    One thing I figured out on my own – when I started doing ‘mini-meals’ is that carbs knock me straight out. Evidently it’s simple carbs that do this so I’ve been eliminating known one’s. Can’t have even a small bowl of low carb cereal. And not even 1/2 bottle of Mich, Ultra.

    So that’s another thought where I’d discount McArdle’s because I see here that it helps people. Or maybe it does unless you end up with adrenal dysfunction.

    It’s been interesting to read this -although I really think it is very different to be a non-diabetic with hypoglycemia. My low glucose level was only 68 (still abnormal low) and jumped to 98 after a month of cutting back on simple carbs. Another important thing to remember is that when glucose levels go done, cortisol goes up. The diet I’ve been on (low carb, little or no simple carbs, high protein) has also helped to normalize my cortisol levels.

    But something I’m doing or not doing is causing these painful spasms in my legs.

    Honestly, I’m not trying to self-diagnose. I’ve had some improvement with treatment for the adrenal dysfunction (progesterone, DHEA and vitamin supplements + dietary) but now a bunch of other symptoms have popped up (more frequent leg pain and weakness, fatigue).

    I can’t afford to have any tests done as my new year insurance deductible is sky high :( . But thought I may be able to get some feedback, any feel for anything I’ve written here that may be a ‘red flag’ for McArdle’s.

    And meanwhile, I appreciate all this info as it relates to my cousin as he is in my thoughts and prayers. I wish the best of health to everyone here!

    Pam

  171. Jim Ottesen
    January 3rd, 2010 at 19:27

    Lynn,
    I’m sorry to hear of your condition. Where was your biopsy done and
    who was your neurologist? I, too, had a biopsy done on my thigh without
    the end result you are experiencing. The Cleveland Clinic erroneously
    concluded I had Mitochondria Myopathy. I challenged their diagnosis by
    having their results and my muscle sent to Columbia’s Neurology Center
    for further examination. The shocking conclusion was that I did not have MM, but an absence of myophosphorlyase dictated a McArdle’s Disease conclusive diagnosis. However, Columbia sent me to Dr. Ron G. Haller, an emminent neurologist and neuro/muscular research scientist,
    in Dallas, Texas to perfect the diagnosis which he did via a needle
    biopsy and ischemic forearm test. Now, back to you. After the biopsy,
    I was forced to stay on crutches to protect the muscle and avoid bleeding. In your case the doctor appears to have nicked one of your nerves. The biggest insult is that you do not seem to have a clear diagnosis. I would suggest you contact MDA to get a second opinion on
    your diagnosis. MM is much more serious than McArdle’s Disease and
    you need clear definition as to the extent of your MM, the prognosis
    and medication. As to what you can do now: 1) Immediately start 100mg
    of COq10 twice a day, B-6 (100mg), Theragran multiple vitamin/mineral,
    6 to 8 glasses of water a day, lots of vegetables, fruits and protein,
    a good greens formula and L-Carnitine (500mg) daily. I would ask your
    doctor to check your urine for blood and protein, your blood for CPK,
    and other neuromuscular diseases consistant with your symptoms. If
    you have your biopsy results I would be happy to see how they compare to
    mine, but I am not a doctor, just one who has seen too much in tests.
    My e-mail address is jott440148@aol.com. Prior to your biopsy, what were
    the symptoms that caused your doctor to want to do a biopsy? High
    CPK, muscle pain, or exhaustion on effort? How old are you? Any siblings with similiar symptoms? As to Finola, I,too, tried without success to reach her. I am concerned about your situation and wish you well. God bless you. Jim

    at the CC, I was forced to stay on crutches for one week to protect the

  172. Lynn
    January 3rd, 2010 at 03:35

    finola :can i also add , when any of you had the biopsy done were you left with no feeling in your leg as this has happened to my daughter . her leg from her thigh to her knee is numb

    I just ran across your post. This happened to me. My biopsy was done about six weeks ago and I still have no feeling. I also get burning, sharp stabbing pains.

    What have your daughter’s doctors said about this? How long ago did she have the biopsy? My knee doctor told me they might have cut the nerves in my skin, but I believe it was a peripheral nerve because of where the numbness is (nowhere near the biopsy). I’m sorry if you already answered these questions somewhere….I haven’t read over the board yet.

    Thanks.. I hope your daughter recovers some feeling.

  173. Lynn
    January 3rd, 2010 at 03:31

    I just ran across this site again when looking at my bookmarks. I can’t believe I never checked back in. I did have the muscle biopsy and it didn’t show anything. I was disappointed in that, of course, because I really want answers. But, my neuro has assured me that in time we will figure it out. I have been tested for fibro, lupus, RA, and I do not have those. The doctors have said Mitochondrial Myopathy is a possibility as I have more symptoms that fit with that than Mcardles. Right now it’s a toss up between mito or some metabolic myopathy.

    Jennifer for pain I have Lortab (which I think is the same thing as Vicodan). It does help most of the time, but I don’t like to take it. I have also found that ice really helps my pain. Neurontin seems to helps some too. I do have pain daily, but not constantly and it is made worse with activity. It is also worse if I haven’t ate, if I’m on my period, haven’t slept well…basically anything that stresses my body. I get shortness of breath at times where I can’t talk.

    The biopsy has left me with some nerve damage which I hope is not permanent. I have no feeling in my leg from about 5 inches above my knee down to my knee. My biopsy was way above that area.

    I see my neuro next montha and I’m going to ask her about CoQ10 and the other supplements that seem to help muscle diseases.

    Thanks for any input.

  174. Jim Ottesen
    January 2nd, 2010 at 23:29

    Ruth,
    Good advice on the “B” vitamins. I take all the “B”‘s and a multiple
    vitamin as well. B-6 is OK to a max of 100mg. The 6 to 8 glasses of water a day plus plenty of protein, vegetables and fruit seems to keep
    me going. I supplement with carrot juice, a greens powder, Coke and
    nutritious snacks. Complement with a dash of light exercise, and I’m
    almost a normal human being. In spite of some difficult moments, I
    avoid muscle stress or pushing myself too hard as I want that CPK to
    hug as close to “normal” as is possible for a “M” person.
    Best wishes,
    Jim

  175. Ruth McKellar
    January 2nd, 2010 at 22:54

    @rebecca Roark
    Hi Rebecca. Try taking B6 AND B12…….together they help me a lot…strengths are as follows..gt from geneticist B12 100 MCGM a day and B6 50 MG a day……..hope it helps

    Ruth

  176. Jim Ottesen
    December 28th, 2009 at 03:05

    @Site Admin
    Site Admin,

    Thank you very much for taking the time to interpret the genetic
    information I sent in my last posting to you.

    For those interested, your doctor can order biochemical genetic
    evaluation for GSD V (McArdle’s Disease)from Duke University Medical
    Center in Durham, N.C. by providing appropriate blood samples. The
    phone number is (919)549-0445 or fax number (919)549-0709.

    Please keep us posted if your doctor uses this service. Jim Ottesen

  177. Jim Ottesen
    December 28th, 2009 at 02:53

    Sue,

    I know how frustrated you must feel. I am 72 years young and have dealt
    with many of the same slights, pains and problems you have faced over the years. However, I just discoved I had McArdle’s Disease less than two years ago. I will not bother you with the details of my misdiagnosis by dozens of doctors, but am happy to tell you that the
    one doctor to “get it right” was Dr. Haller in Dallas, Texas. If
    you need the ultimate confirmation of McArdle’s Disease, he is the man!
    Once you have the results of his tests, there is no way any doctor (in
    his right mind) can doubt your symptons. I certainly encourage you to
    see him and get his exercise program. Good luck! Jim Ottesen

  178. Jim Ottesen
    December 28th, 2009 at 02:42

    @Sue
    Sue,

  179. Site Admin
    December 21st, 2009 at 21:19

    That mutation effectively truncates the gene product. Within the sequence of amino acids that form a protein or enzyme, this mutation changes an instruction for a specific amino acid instead to a “STOP” signal. To use a crude analogy, this is like hitting cancel in the middle of a print job and all that comes out of your printer is a mostly blank piece of paper with some incomplete cut off print at the top. The practical ramifications depends on what the other copy of the same gene looks like (you said they were heterozygous.) A nonsense (“stop”) mutation that early in a gene results in a non-functional protein. The same mutation occurring way downstream in the same gene might only impair the function of the protein without eliminating it altogether. Again – we have two copies, and even in McArdle’s disease (homozygous) they’re not the same version of the gene or same mutation.

  180. Jim Ottesen
    December 21st, 2009 at 21:00

    Site Admin or other “M” patient,

    A recent genetic test for a friend showed the following:
    There was a partial analyze of a gene PYGN (V). In first exon of gene
    there was a mutation Tyr74Stop ( in heterozygous condition ).
    That is all. Any ideas? I’m leaving for Christmas holiday tomorrow,
    but should return by 12-28 and hope that some of you “detective types”
    can help me help a person in need.

    Thanks for any effort. Merry Christmas and a Happy New Year!

    Jim

  181. Rachel
    December 18th, 2009 at 14:47

    @Shannon
    Hi Shannon,

    Your daughter’s case is a lot like mine. I do feel sick, like I will throw up during episodes. And for worst cases during the cold…it is because your muscles have to work harder to stay warm.
    I am 24 years old and have always known something was wrong with me. My first serious episode came from playing tug of war when I was 17. My back swelled up and I was in unbelievable pain. I had acute renal failure. My cpk level tip the scales at 176,000 but I have never had dialysis. That hospital stay was for 7 days and the doctor’s had no idea what was wrong. I went through a million doctor’s and a lot of blood tests. When I was 20 I had a muscle biopsy scheduled but was later cancelled. I did have the test done with the blood pressure cuff on my arm and had to squeeze and release…you can imagine the result on my forearm. Then and there I was diagnosed with McArdle’s. At 23, with a mix of stupidity and pride I helped someone lift a mattress and strained my forearm. A few hours later I was in too much pain so I went to the hospital. I was taken into emergency surgery to have a fasciotomy. I had compartment syndrome. Three surgeries in four days led to two scars on my left forearm. The top one is about 4 inches long and the other goes from the middle of my hand all the way to the crook of my elbow-about 12 inches long.
    My mom has done so much research and as you may not know is that it is genetic. Both the mother and father carry the autosomal recessive gene. However this does not mean they have the disease themselves. Having McArdle’s is a 1 in 60,000 chance. Well me and my older brother, by 6 years, both have it! The crazy part is that my first hospital stay that I spoke of earlier; I was admitted to the hospital on Nov 13th-my brother’s birthday. The next year, not knowing that he even had the disease, had a bad episode and was admitted on Sept. 6th-my birthday! Cue in the creepy music huh?
    I can’t stand having to hold back. However I am a very happy person despite the setbacks it causes. I almost lost my arm last year. I thank God everyday because I truly think he knew something sparkly was going to be on it later. I was married this year to a very supportive man and I proudly showed off my beautiful wedding ring on my beautifully scarred arm. For me it is now just another beauty mark and a reminder that I am (as my family says) a ‘delicate flower’.

  182. Sue
    December 18th, 2009 at 01:02

    Hello,

    I have had the symptoms of McArdles disease for as long as I can remember. I first remember trying to play chase and always running out of steam and then later on PE class in grade school and looking out of the window seeing the kids running back and forth across the playground at the end of semester for the 600 yard dash. Even in 3rd grade I can remember worrying about it all day long, knowing I would be the last one and how ridiculed I would be by the teacher and other kids. I was always a small kid, never on the chubby side until I was older, and certainly looked healthy enough to run and play. It is embarassing to say, but in Junior High I tried jumping off of my friend’s barn in hopes of breaking my leg and not having to run the 360 yard dash. I still see everyone standing on the sidewalk and yelling for me to get the lead out, being the last one. I then had the bright idea of joining band in high school and that was really a problem, however, by this time I had discovered the second wind phenomenon and if I could just push through the pain and heaviness in my legs, sometimes I could manage to avoid having to stop and have everyone notice there was something wrong with me. Except for that one time at half-time with all of those people in the stands when I just had to walk off of the field because I couldn’t make my legs keep up any longer. Shortly after that the band director replaced me with someone else. I wasn’t upset though. I was just relieved. Everyone always thought that I was lazy, but like many others notes that I have read, I had the same tricks such as stopping to tie my shoes, looking at something on the ground that had caught my eye, staring in the store window, etc. I have had some severe injuries over the years such as the time my family and I went on vacation and I tried to swim the length of the pool to impress my children, only to injure my legs so badly that I was in agony the entire night in the motel room and could hardly walk the rest of our trip. Then there was the time when we went camping and going to the restroom meant squatting and I hurt myself severely again. This time there was the cola colored urine and a trip to my doctor the next day. He wasn’t very concerned even when I had brought in a rather odd colored urine to him (it wasn’t dark by then, just cloudy), but because my brother had been diagnosed with McArdles a few years earlier, I asked him to do a CPK level. The next day I got an urgent call from his associate (he was out of town) asking what had happened to me because my CPK level was 30,000 and this particular lab stopped counting at 30,000. Lucky for me I drank lots of fluid and recovered without being hospitalized. Shortly after I saw a neurologist in the DFW area who was affiliated with MDA. I wish I could say I felt better after seeing him, but I didn’t. I have to say though that this particular doctor had muscular dystrophy himself and from his viewpoint I guess he couldn’t understand why I would be complaining about muscle aches when I could still walk and he couldn’t. He told me he didn’t need to do a muscle biopsy in order to confirm McArdles because I had so many symptoms that indicated McArdles, not to mention that my brother has McArdles by confirmed muscle biopsy, along with the cola colored urine and the elevated CPK which has been documented as elevated even when I didn’t have an injury. I am writing this because recently I have been having muscle spasms more frequently and would really like to see Dr. Haller in Dallas whom my brother has seen. My brother really felt so much better after seeing Dr. Haller and knowing that all of his muscle pain and inability to keep up with everyone else was really a medical problem and not something “in his head”. I had another episode last week and was in agony all night, waiting for morning to call my doctor’s office. I called them at 8:30 and was told that they didn’t want to see me and I just needed to go to the emergency room. What a waste of time that was. The physician there decided I had “gastritis” and sent me home with a prescription for Pepcid (I’m already on Prevacid), Hydrocodone (took 10 mg every six hours the night before and didn’t do a thing to help my pain) and something for nausea (I wasn’t nauseated). The pain continued for 5 days and I finally went to my doctor yesterday and he was obviously very irritated with me that my symptoms weren’t what he felt they should be for back spasms. I don’t know if anyone else has this problem, but the pain will start in my back and feels like contractions. It causes my stomach to hurt too. He said that was more indicative of something like pancreatitis so now he is sending me to get a sonogram. I don’t think it will show anything. I suppose I am just rambling now, but I am wondering if I should see Dr. Haller and get the muscle biopsy. I am 52 years old and I don’t really know what it will accomplish. I know I have McArdles and if the biopsy came back negative, I would be absolutely astonished. I guess more than anything, I would just like to have confirmation and actually be able to talk to someone who didn’t make me feel like I had an imaginary problem. Even when I mention to the doctors in the ER what I have, I feel that they look it up online and the first thing they see is “inability to exercise”. Funny thing, most of the injuries I have incurred haven’t been from exercising. I even injured myself once rolling out dough to make a pie. LOL. I just wonder if anyone else feels the same way. In closing, I would like to say that I consider myself very fortunate in so many ways. Luckily I don’t suffer every day from McArdles and I am still mobile. There are so many more severe forms of muscle disease. With that being said, I would like some confirmation that all of my problems are not “in my head” as I have been made to feel lately. I did call Dr. Haller’s office today and was told that my doctor would need to fax my records. I just hope that he will see me. For once in my lifetime I would like to see a physician who understood.

  183. mittese
    December 16th, 2009 at 05:12

    My name is Mittese, I have a 13 year old daughter that was diagnosed with the ‘m’. She first started out being sore, and very tired. A day later it went to not being able to move. I took her to the Dr. and she was taken to get blood work, it came back that her liver enzymes were high. That day she started to cramp real bad, and having muscle spazms. She went to the Dr. again the next day, went for more blood work, and found out her cpk level was greater than 13,000, and was admitted into the hospital. The Dr. on call had no clue, she was so swollen that you could leave your finger print in her leg. Finally after being in the hospital for 3 days a nurologist came so see her. Looking at all of her symptoms he looked on the computer and came across ‘m’. She has had to have blood work to check her `cpk levels every month. It has really limited her to what she can do. I had to appologize to her for thinking she was lazy for all these years. What do you tell a teenager to help them cope with this disease.

  184. Ross
    December 15th, 2009 at 09:52

    @Mario
    Mario,

    Sorry it’s taken so long to reply. Protect that kidney!!! Do light exercises but definatly exercise. I understand about heavy manual work. I’ve worked in a manufacturing facility for the last 15 years and have gotten hurt many times. If you get tired or in a position where you could injure yourself just stop for a few seconds to relax the muscles. Never worry about what anyone may think of you. The disease has a tendancy to cause even more problems in hot and very cold weather so be extra vigalant during these times. Stay active, never exercise to the extreme and you may want to look into supplements. I have mentioned in above post what helps me which is certain amino acids but I would advise you to do your own research and tell your doctors about the things you are planning to try before doing so.

    God Bless my West Coast friend.

  185. Sam
    December 13th, 2009 at 02:39

    I am not sure if this disease is what I am experiencing.
    I do have poor circulation and lately have gotten leg cramps that are very painful and last longer than a typical charlie horse. In the areas I get the cramps I have gotten bruises…which are strange looking. I do bruise easily…but there bruises are much different in size and color as the usual bruises I get.

    In the past I have gotten cramps in my calf muscels that have lasted 45 minutes or longer. Once they go away…my leg still feels sore and it is uncomfortable to walk.

    I do complain about getting weak…it feels like my muscels are completely drained of energy. This not only happens during exercise but also when I am relaxing.

    Any ideas? Could these smyptoms be McArdles Disease?
    If so, what kind of foods and vitamins are recommended to eat/take?
    Thank you for your time. Sam

  186. Link
    December 11th, 2009 at 15:13

    @Jim Ottesen
    Greetings from a new member. I have something similar to McArdle’s but not able to get a firm diagnosis of the problem. I’ll write up the whole history here one of these days. I wanted to mention that Biotin has cured my night time muscle cramps. I was one of many supplements that OSHU Neuro tried when ‘shot gunning’ various treatments. I did not help with muscle fatigue but the leg cramps went away. I’ve tested this several times and within a day or two of stopping the supplement, cramps return. Just wanted to pass this on in the ‘for what it is worth’ department.

    I live in The Dalles, Oregon and we are building a cabin in the North Idaho Panhandle (near Sandpoint) so I shuttle back and forth and have limited access to Internet when in Idaho.

    Has anyone here had contact with the Saulk Institute? They are doing some interesting research on insulin resistance.
    http://www.salk.edu/news/pressrelease_details.php?press_id=204

  187. Jim Ottesen
    December 10th, 2009 at 01:29

    @finola
    Finola,

    I’m so very sorry to hear of your daughter’s complication. Was the
    biopsy a surgical procedure in an operating room or a needle biopsy?
    If a surgical process, was she on crutches for a few days? In my case,
    I had each type of procedure without complication, but had to be on
    crutches for several days to help avoid complications. In any event,
    numbness was never a problem – it seems possible that the surgeon might
    have nicked a nerve. I would express concern to the doctor that you
    are concerned, want to know if the numbness is temporary or permanent and determine what they intend to do to correct the problem. As you well know, complications can arise from surgery, but you deserve some
    straight answers. By the way, was she diagnosed with McArdles or
    some other neuromuscular disease? Keep us posted. Jim

  188. Jim Ottesen
    December 10th, 2009 at 01:13

    Chris,
    We thank you for giving us the opportunity to be of help. As you know,
    McArdles is a very complex disease and, most of the time, those
    afflicted with the disease are most able to help with the many
    day to day issues which all of us experience. The doctors seem to
    be more content with their diagnosis than guiding us through the
    living experiences we face every day.
    We congratulate you on your amazing accomplishments and wish you continued success with your music and your life. Your attitude for
    overcoming obstacles to find happiness and opportunities in ones private world is a lesson to all of us. Please let us know if we
    can ever be of help again. God bless you! Jim

  189. judy nulik
    December 9th, 2009 at 18:00

    to jim ottesen, what are the greens that you are referring to? i wonder if they would help my son brian. brian is 21 yrs old.we have a long story but for now i will just say that he had a muscle biopsy that diagnosed “m” and the DNA test that confirmed it. i give him l-arginine and l-glutamine and some sublingual b-complex(besides the regular vitamines). the amino acids have helped alot but i need to find something more to help him get his weight back. he lost alot of weight when he got sick from a viral illness at the start of high school.,and has not been the same since. it was this illness that led to the blood tests that showed the 40,000 ck.i was told at the time that brian was just having a strong reaction to this virus and it would get better. turns out he had an elevated ck before he got sick but we just had not been told about it. by the way, how often are you supposed to have the ck and urine levels checked?

  190. Chris Pan
    December 9th, 2009 at 16:26

    Dear Site Admin and dear Jim,

    I would really like to thank you for your time and concern. The info you provided me with, was really useful. I spend a lot of time reading what people have written in this forum and i would like to send out a message of optimism and hope, to all these people whose lives have been struck by this disease. Although I suffer from Mc Ardle, I have managed to obtain a university degree, an MBA degree and to publish my own hip-hop record from Sony Music Greece.

    Anything is possible, and set backs like Mc Ardle, shouldn’t be obstacles for finding happiness and success. PS: Please excuse my poor english, I’m more fluent when it comes to Greek language..! :)

  191. Jim Ottesen
    December 4th, 2009 at 01:28

    Rebecca,

    I am so very happy for you! I pray you will now get the advice you
    deserve to protect your kidneys. You are definitely moving in the
    right direction and I feel you will soon begin to realize the benefits
    of your efforts.

    Good luck!
    Jim

  192. Rebecca Roark
    December 3rd, 2009 at 23:22

    I have some good news. I saw another Dr at my physcians office and he said that he would get me a kidney specialist and hopfully that Dr will have some insight as to what i can do to prevent renal failure. I feel i am moving in the right direction and mostly because of the inshight i have gotten from the comments on this site. So thank all of u for pointing me in the right direction.

  193. Jim Ottesen
    December 2nd, 2009 at 03:42

    Chris,
    Adding to what our Site Admin suggested, I would suggest that the
    “workout” we refer to is much different from a workout performed by a
    normal person who can lift weights, etc. without concern. Specifically,
    you need to monitor your heart rate, CPK (creatine kinase) and urine to
    protect your body. You need to let your doctor know of your plans so
    he can make suggestions for periodic blood tests and protect you should
    you have any other physical issues. If you start “workouts”, increase
    your water intake, watch your diet, increase your protein intake, monitor your blood pressure, start slowly, stop if too tired and, should
    you have pain, stop the workout. You need exercise to maintain your
    core strength – it is essential for you. But remember you can start on a
    bike or treadmill or walking. As Site Admin says, “know your safe limits and have patience.” Good luck to you! Jim

  194. Site Admin
    December 2nd, 2009 at 00:53

    The truth is that working out can be both hazardous and beneficial to people with McArdle’s disease. It is all about timing and conditions. Your muscles aren’t equipped to sustain intense activity beyond 10 seconds or so. However – by finding a happy medium stopping point that approaches fatigue but comes safely short of failure (and subsequent injury), you push your body into a warm-up range where it responds hormonally to exercise the way normal people’s bodies do. Your heart rate will go up, you’ll become warmer and sweat, your blood vessels will dilate. This warm-up is critical to reduce risk of injury; take more time than you think you need to warm up or do anything else. Exercise and improving one’s level of physical fitness is about pushing limits, and this hold true for people with McArdle’s disease but we have to be far more vigilant, identifying our safe limits and approaching them with a lot more patience.

  195. finola
    December 1st, 2009 at 16:44

    Victor please contact my daughter she also lives in sydney, near manly beach e mail artie_newman@hotmail.com

    Thank you Finola tanya’s mum uk

  196. finola
    December 1st, 2009 at 16:29

    can i also add , when any of you had the biopsy done were you left with no feeling in your leg as this has happened to my daughter . her leg from her thigh to her knee is numb

  197. finola
    December 1st, 2009 at 16:23

    alex my daughter has 3 children and ia a sufferer she was onl diagnosed this year . i have enclosed her e mail address
    artie_newman@hotmail.com her mane is Tanya she lives in Sydney Australia

    good luck
    Tanya’s mum Finola

  198. Chris Pan
    December 1st, 2009 at 14:15

    Hi Everyone,
    my name is Chris and I am from Athens, Greece. I was diagnosed with McArdle’s disease when I was 17 years old. All this time, I though ignorance is bliss and I never looked up McArdle’s disease on the web. I know it’s not the wisest thing to do, but that was my reaction.

    I have to say that my life is pretty “normal”, I do what all “normal” people do, the only thing that differs me from the others is that I dont work out, as my doctor suggested.

    The thing is, that as I see here, many of you, do work out and I am sort of confused. Working out may end up in ruining my muscles or not.?
    Can anybody help me on that one?

  199. Mario
    November 29th, 2009 at 19:41

    Hi Ross.

    My name is Mario I am 43 years old I was diagnosed with McArdles Disease in 1995 at UCSF in San Francisco California. I have had Kidney failiore leading to kidney transplant in February of 2007. My kidney failure was caused by another Genetic disorder called FSGS. For the past year my CK has been really high to about 7,000. At this time I am waiting for an appointment with a neurologist at UCSF. My work is heavy manual work and it is really dammaging my muscles. My biggest concern is dammaging my new Kidney. I am really happy to hear all of these stories posted. It is helping me understand more my muscle issues and feel like there are other people out there that can understand me. At the time that I was diagnosed the doctor told me that there weren’t too many people in the world with this disorder because it was not easy to diagnose. I think because of the way of communication in the internet more people are becoming more aware of the issue. Hoppefully soon there will be more medical research done on it to help people like us.

    God Bless all of you.

  200. Joseph McCarter
    November 29th, 2009 at 10:13

    Hey Rebecca,
    You could try drinking isotonic sports drinks like gatorade. That helps me out.

  201. rebecca Roark
    November 25th, 2009 at 15:35

    hey everyone,
    Sorry its been awhile. I’ve had a really bad month, I’ve had 6 episodes where i couldnt move and awful pain. I’ve learned to deal with the pain an not being able to move, but my biggest problem is extreme fatigue for the past week i have had to force myself out of bed. My doctor has no suggestion on what i can do for more energy, if anyone has any ideals i’m all for it. The fatigue seems to be my biggest battle.

  202. Anne
    November 21st, 2009 at 08:40

    I have found this website to be very helpful. I had never been told not to have an anaesthetic & have had several including 3 with a tourniquet. Hindsight is a wonderful thing this may explain a few things for me as I had a lot of trouble Post op with full body tremors, feeling so cold, very low oxygen levels that they had to keep me on nasal tubes for a while, a great deal of soft tissue swelling for a very long time as they did extensive work on my forearm. Since this time I have a permanent impairment in this site with constant burning pain on use, cramping, muscle weakness that I have had to learn to use the other hand as this was my dominant hand & at times if I overuse it I can’t even hold a pen to write. I could never understand why I couldn’t strengthen this arm & I am starting to wonder if this is M taking us residence in the injury site. The muscle fatigue even in simple things comes on so quickly in matter of seconds. For many years it was only in my legs now it seems to be spreading. Has anyone found as you have a muscle injury does M seem to spread to this area as well. My neurologist shocked me when she told me what could happen with M as my family never told me anything when diagnosed, and I am glad that they didn’t when I was 17.

  203. Anne
    November 21st, 2009 at 07:59

    My neurologist told me about this site. I am a 51 yr old woman from Brisbane Australia. I was diagnosed when 17 by muscle biopsy & told to give up all sport immediately. I have no record of it today as the dr has retired. Word of advise keep records yourself now, as this current dr has to do it all again as they can’t just take your word for it. I have found Magnesium & Potasium very helpful.

  204. Jane
    November 21st, 2009 at 05:13

    Hi!
    I have had leg cramps since I was in my early teens. Over the years they have gotten worse and worse and now I cramp up in almost every muscle in my body. It is usually exercise induced, mild exercise! My legs feel fatigued whenever I stand very long. And, I can no longer crouch without cramping up. Does this sound like McArdle’s? –Jane

  205. Belinda
    November 14th, 2009 at 04:01

    Hello,
    i was diagnosed at age six and am now 14. both my sister and i have mcardles diesease. i find it hard to be fit and lose weight, any tips?
    thanks

  206. Jim Ottesen
    November 14th, 2009 at 01:48

    Lynn, Any updates on your condition? On 10-21-09, your posting suggested that your doctor wanted to do a biopsy – did it happen?
    It certainly sounds like McArdle’s Disease, but so many of the
    neuromuscular diseases mimic each other. There are four or five
    metabolic diseases, fibromylagia, mitochondria myopathy, arthritis, etc.
    that I feel your doctors might be evaluating, but they need to identify
    the culprit to give you the best treatment for your pain. Having been
    misdiagnosed by one of the most prestigious hospitals in this country,
    I urge you to ask many questions as to what the doctors suspect and
    what other screenings they will do if “M” is not the answer. Keep us
    posted. Good luck to you! Jim

  207. Jim Ottesen
    November 12th, 2009 at 16:34

    Jennifer and Lynn,
    I am concerned that besises McArdles Disease, You may be suffering from fibromylagia or arthritis – have your neurologists tested for those
    diseases yet? Mitochondria myopathy might also be a possibility. In
    your case Lynn, did I understand that tissue from your biopsy 10 years
    ago was going to be reviewed? If so, what is taking them so long to
    get that effort underway? You are right, there are many screeningsPain today that were not available 10 years ago. They should consider a screening
    for the other types of glycogen storage disease and Mitochondria myopathy in addition to their own thoughts. Pain in “M” is usually not
    a part of everyday life – it results from too much muscle stress. Are
    either of you involved in work or activity that might put stress on
    your muscles? I had to see you focus on which pain med is best when there might be another factor creating part of your pain. Do you
    exercise? Walking is good, but too much can be a problem. Let us
    know your updates? My very best wishes. Jim

  208. Jennifer
    November 11th, 2009 at 23:03

    @Lynn
    Don’t worry. I had my biopsy when I was 18 and I was scared to death. But he did it in the office and he numbed the area before he actually cut and then numbed it more once he was into the muscle. I watched the whole thing and to be honest the worst part is the shots that numb the area. I am really interested in what you find out because I also have constant pain and it gets worse with any activity as you had mentioned. I have read almost every post on here and yours caught my eye because I seem to have the same symptoms and most others get pain when they are going into rhabdo. My neurologist is testing my muscle some more to see what else could be going wrong. So please let me know what you do for the pain. I have tried many different pain meds and I also see a pain specialist but I would like to know if something works better than others. It seems like we are kind of going through the same thing. If you have anymore questions about the biopsy, feel free to ask. Keep me posted and I will the same!

  209. Jennifer
    November 11th, 2009 at 15:21

    @Jim Ottesen
    My neuromuscular doctor is pulling my muscle from my biopsy and sending it off for more tests because they are thinking ther is more to it. I saw the pain specialist and he started me on time released morphine and percocets for break through pain but it doesnt seem to be helping, He is even talking about doing injections in my back. I think since he doesnt know about the disease he is thinking that the injections will help but it is my muscles in my back and legs, nothing to do with the nerves. Has anyone had any success with any pain meds because these dont seem to be helping. He said he can up the dose if need be but i would just like something that is going to keep me pain free until they can figure out what more is going on. Please help!

  210. Ross
    November 11th, 2009 at 07:16

    Rebecca Roark,
    Haven’t heard from you in a while. How are things going with you? OK I hope. Keep us updated. Find me on face book and send me a message along with a friends request.

    Ross Vestal

  211. Chris
    November 9th, 2009 at 13:40

    @Linda

    Hi,
    My name is Chris and I was diagnosed with McArdles in 1994, when I was 5 years old. At the time I was the youngest person ever diagnosed, mainly because it is looked at as laziness in kids. I find it interesting that you noticed a difference while you were in Italy. I am from an Italian family and have eaten pasta every day for years. However, I myself have been to Italy several times and during my most recent visit (2007) I spent three weeks basically backpacking the entire country. I noticed that I nearly had any problems at all, with the exception of climbing to the top of Capri, which was extremely difficult.
    I told my neurologist about this strange occurrence and she too said the high carbs of pasta could have caused this. I just found it incredibly strange that all my life I have eaten large amounts of pasta and it only seemed to help me when I was in Italy.
    As far as a diet goes that helps, I have found that eggs seem to help. I try and eat foods with high carbs and high proteins. I try to stay as active as possible. I notice I have less problems in the summer months, but I feel that this is because I spend my summers doing manual labor (within my limits).
    In the winter months I do not see more of a problem, I just feel like I am less in shape, and walking up hills is incredibly painful. I am an avid skier and have been since a very young age. Skiing presents no problem except for my knees, which burn very badly depending on the type of skiing I endure. I try to push myself as far as I can go without going overboard, and the pains in my knees go away usually within a day.

  212. Jim Ottesen
    November 2nd, 2009 at 00:40

    P.S. The typing demon typed five “limits” instead of five “minutes” -
    I’m sorry for the error.

  213. Jim Ottesen
    November 2nd, 2009 at 00:29

    Ross, Site Admin and other “M” friends,

    Well, my personal “test” with 500mg of L-Carnitine is done. From my own
    experience, while I have not achieved extra strength capability, I can
    say that my stamina has increased beyond my previous limits. In fact,
    heretofore, my initial time on the bike was limited to less than five limits. At that time, I would have my energy peak out, and would have to stop for a period until my second wind would enable me to continue
    on . Now, I find that I am able to bike for 15 minutes before I peak out. While we are all different, and I can’t suggest all would benefit,
    I do feel you might want to ask your doctor for his opinion. As to my
    specifics, I have taken the supplement at different times of the day,
    with and without food, and find the results are the same. However,
    since I have a touch of GERD, my best results are achieved by taking the
    pill with food and water. As I exercise, I continue to drink water in
    reasonable amounts until my exercise program is ended. My special thanks to the Site Admin and Ross for sharing their ideas and experiences with me. If any of you try this, please ask the doc first
    and please share your personal results with us. More later. Jim Ottesen

  214. Jim Ottesen
    October 30th, 2009 at 04:12

    @Jennifer
    Jennifer,

    The first reaction is one of shock and disbelief. How could this
    be happening to me? But it has. So we get busy to define as clearly
    as we can the extent of the disease, an appropriate diet, exercise
    limitations, helpful supplements, periodic CPK tests to protect the kidneys, visits to your neurologist for pain and cramping and a ppositive attitude that things could be much worse. You must take
    control of your problem! Don’t let it control you. Most of us have some
    pain, but we limit the meds to only what is absolutely essential. See how your doctor can help you. Ask him if your “M” could be complicated
    by another neurological issue like fibromyalgia. You need more help from your neurologist. Let me know what happens. Things WILL get
    better for you. Good luck! Jim Ottesen

  215. Jim Ottesen
    October 29th, 2009 at 01:49

    Bebe,

    Thanks for the clarification. This is my 4th day on the L-Carnitine(500mg) and all is well. In fact, things are looking positive thus
    far. By Sunday, I should have a better indication and will update
    all by then. If you don’t hear from me, you’ll know I flunked the
    test. By the way, I think you’re smart to stay on the low end of
    the range as our bodies are already dealing with a lot of “stuff”
    so “slow and easy” may help us win the battle. Later. Jim Ottesen

  216. Jennifer
    October 28th, 2009 at 23:21

    Hi everyone! I am 28 years old and was diagnosed with Mcardles when I was 18. I had my first major flare up with rhabdo when I was 15 but the doctors didn’t do a biopsy until I was 18. I don’t even know where to begin. Over the last year it has been a constant struggle for me. My condition seems to be getting worse. My ck levels go up and down all the time now and I am in constant pain. I was on pain med and then I switched doctors recently and he sent me to a pain specialist that I see Friday. The time with out meds and no pain control in between I have been in and out of the hospitals. I feel like I live there. It has caused major depression for me. I have a wonderful fiance and 8 year old son. I feel so bad because they are always with me and I feel like I am just going down hill. I went to see my neuromuscular doctor on tuesday and they took some blood and are going to pull some of my muscle tissue that they still have and send it to bailor, Texas to have a bunch of tests run on it that weren’t available 10 years ago. I have been reading some of the postings on here and it feels so good to hear some of the stories and know that I am not the only one that has and is going through all this. I have been there when the doctors think you are drug seeking and it is awful to know you have something that even most doctors haven’t heard of. I see one of the best muscle doctors I think there is. I guess I am just writing on here to get some advice about what some of you may have done when it gets this bad and you feel like just giving up? Is your pain controlled well? What works good for some of you? I feel like I have tried every medicine there is. Please help or someone atleast respond!

  217. Bebe
    October 28th, 2009 at 16:43

    Another clarification. I just saw a BCAA complex for sale that had 2400 mg. The one I take has no more than 100 mg. of each one. Maybe that’s not enough, but that other amount is scary. Everything I am taking is on the low end of milligrams. The l-theanine is also 100 mg.
    That’s all. Bebe

  218. Jim Ottesen
    October 27th, 2009 at 02:04

    Bebe, Thanks for the information. To you I say “AMEN.” To help me (and
    hopefully others) my test with L-Carnitine is underway at 500mg and
    after a couple of days all is fine. In fact, I think my energy levels
    were better today – I hope so. I still feel the doctors, researchers and
    experts could do more to give us better guidance on diet, supplements,
    exercise and cautions for the “average” patient with McArdle’s Disease.
    Please keep us informed on any results from your diet and supplements.
    None of us are physicians, but it would be great if they read these
    postings as I feel all of us could benefit. Our personal thoughts have
    great value, but without the doctors concurrence, the limits are
    clear. We will never stop trying to help! Jim Ottesen

  219. Bebe
    October 27th, 2009 at 01:24

    Jim, thanks for the comments. Sounds like you and Ross are on a mission to help people with Mcardles. Thank you both for your interest and help to all. Wanted to clarify the amino acids I mentioned earlier. I left off that the phenylalanine is the dl-, not the l-. The dl form is helpful with pain.(DLPA) The combination is called Brain Energy and is made my Douglas Labs. I think that combination helps more with depression and stress related problems, but it has helped my energy level as well. Another thing I have started that has helped a lot is l-theanine which lessens stress. It also helps me think more clearly. It really does and it basically is like drinking multiple cups of green tea. One more combo that has really helped my muslces is BCAA (branched chain amino acids) comprising leucine, isoleucine, and valine which must be used in combination with each other. Each of those is specific to muscle. I understand that “M” is not just about amino acids and neurotransmitter deficiencies, but a really good book I found that helped point me to some good information is called “Heal with Amino Acids and Nutrients” by Dr. Billie Sahley. Sometimes we just don’t know where to start, and doctors won’t usually point you in a direction of natural healing. One thing I would add: check out the contraindications and make sure these things will not interfere with something you are currently taking. And at the advice of one doctor, only add one thing at a time and wait a week or so before adding another to see how your body reacts to each addition. Also, start with small amounts at first. That’s one reason I like the Brain Energy, it has lesser milligrams of the neurotransmitters than are normally found. Anyway, my heart goes out to each one of you. Hope and trust. Don’t give up. God created our bodies fearfully and wonderfully. We can heal. We can be whole. Bebe

  220. Jim Ottesen
    October 26th, 2009 at 02:37

    Ross and Site Adm, Thank you for your comments as to L-Carnitine. Today
    I took my first 500 mg and all is well. In a few days I will know
    more as I have a personal trainer who helps me along every Tuesday
    and Thursday and by Friday I should have some idea as to how I will respond to my experiment – I’ll keep you posted. Perhaps it might
    be of benefit to another person – we’ll see. We are all different
    with different issues. More soon. Jim Ottesen

  221. Jim Ottesen
    October 26th, 2009 at 02:12

    Rebecca, I am very happy to hear you are making good progress
    toward getting with the MDA. I know their doctors can help you -
    keep up your great efforts. Just keep dealing with the paperwork
    and the process and help is on the way. Keep up your strong spirit
    and prayerfully you’ll get the help you deserve. Keep us posted.
    Make the person helping you at the MDA your best friend as she can
    help a lot in the long run. Good luck! Jim Ottesen

  222. rebecca Roark
    October 25th, 2009 at 17:33

    I tried to contact the mda. They said i have to have a refferal because of my health insurance. My family dr has agreed to give the referal for neuro and he said that neuro would give the refferal for a kidney dr. But he said he didn’t think that my insurance (nc medicaid) would cover a kidney dr unless my kidney’s shutdown. The insurance is already throwing a fit becuase i have to go to the dr so much. My ssa lawery said not to worry that he would deal with the insurance. And no no one has suggested any dr i’ve been telling my family dr that i want theese refferal’s. He said he would but he didn’t think it would help i told him at least it was anoher chance that my health good get better.

  223. Jim Ottesen
    October 23rd, 2009 at 03:58

    @Ross
    Ross, Thank you very much for the information! As soon as I can, I
    am going to GNC to order some of the supplements you mentioned. I’ll
    start with the 500 mg of L-Carnitine and also look into the Beta Alanine
    and L-Argenine. It would be great if I could say goodbye to the cramping every night. Jim Ottesen

  224. Jim Ottesen
    October 23rd, 2009 at 03:50

    @rebecca Roark
    Rebecca, Have you contacted MDA yet? Your news is not good.
    As I have suggested, You need to gather ALL your records and see
    a neurologist and nephrologist ASAP. Hasn’t your doctor suggested
    a kidney doctor? Or is he just keeping you posted? You’ve been told
    by your rheumatologist you have the risk of kidney failure. You
    need to get help soon. It seems you are delaying the inevitable.
    We care, but you must make the move. Good luck! Jim Ottesen

  225. rebecca Roark
    October 22nd, 2009 at 17:15

    Ross,

    Thank you for the link. I live in Ashe so we’re close to neighbors. I’m going to contact them. And i got some bad news yesterday my family dr called me and said that my myglobin is 22 points high, he said that means that my kidneys are having problems. I’ll ask about my pain meds but thats all i take.

  226. Ross
    October 22nd, 2009 at 10:49

    Rebecca,

    Please have the doctors evaluate all the meds you are taking. Just a stab in the dark, but this could very well be complicating your situation. One of the doctors told me that statons like for cholesterol and some pain and psych meds can cause the rhabdo to come about in McArdles patients. Worth a closer look. Never hurts.

    @rebecca Roark

  227. Ross
    October 22nd, 2009 at 10:39

    Jim O,
    I take 500mg of L Carnatine twice a day and I take the GNC Beta Alanine which has other compounds in it for a total 1600mg twice a day but this is NOT pure L Alanine. I believe your doctor can prescribe a pharmacy grade pure L Alanine which I am going to check into. This is in my own experimentation in which I have consulted my family doctor with. I still have muscle weakness and I have to be careful and pace myself but I have not had the severe “cramping” since I began taking this blend. Going on what I have been reading in research the l carnatine helps the body breakdown fat and deliver it to the liver for energy. Since our missing enzyme is keeping us from burning carbs for energy..This should make fat a more ready source. The L Alanine helps the liver deliver this energy to the muscle more efficiently.
    I also have started using L Arganine which improves blood flow. This couldn’t hurt to try since the blood is the carrier for all the muscles nutrients. So far I have had great results.
    As always talk to your doctor and DO NOT take L Arganine if you have had Severe heart trouble. Read all Labels. Web MD is a good source of info.

  228. Ross
    October 22nd, 2009 at 10:17

    Rebecca,
    http://www1.wfubmc.edu/neurology/Faculty/Caress.htm#
    Follow the link above. It should provide all the contact info you need. I am sorry it takes so long to reply to questions. I live in the foothills of Wilkes. We may be neighbors. God Bless!

    @rebecca Roark

  229. Lynn
    October 21st, 2009 at 22:26

    I’m so glad I found this website. I am in the process of being diagnosed. I have finally found a wonderful neuro. At first it was thought that I had MS, but as more time has gone by it looks as like I have a metabolic myopathy of some kind. My neuro really thinks it could be Mcardles. She is discussing my case with another doctor in her office. She wants me to have a muscle biopsy. I have a few questions. I have had many EMG’s and they have all been normal. Can you have a normal EMG and still have M’s? My CPK so far has been normal, but my dr thinks it would probably be elevated if I had it checked when I was having an episode. I have constant pain. It is brought on my stairs, walking too much, squatting (that makes me feel like the wind has been knocked out of me)…I also have pain with my arms. Anything w/repetitive motion (folding laundry, hanging clothes, etc). I have fatigue, weakness, and shortness of breath. My jaw gets sore when I chew sometimes. Especially with chewy foods, or when I’m tired. I’m worried about the muscle biopsy…are they very painful? Thanks for any help.

  230. Jim Ottesen
    October 20th, 2009 at 00:17

    @rebecca Roark
    Rebecca,

    I am happy and relieved to hear you are on the way toward help
    with your problems. You have suffered so long, you deserve relief.
    I have been worried about your kidneys and the possibility that
    other issues may be involved. Keep us posted. Good luck! Jim Ottesen

  231. rebecca Roark
    October 19th, 2009 at 22:29

    Jim i have found the mda’s email and phone #. i have already sent them an email and plan on calling tommorow. thank you for your concern

  232. Jim Ottesen
    October 19th, 2009 at 22:22

    @Denise Hodges
    Denise,

    Please let me know how things went with the biopsy on your son’s biceps.
    Also, the results of his ischemic forearm test. He did sound at risk
    for “M”, but we can always pray and keep our fingers crossed, If the
    diagnosos was “M”, did the doctors provide suggestions as to diet,
    exercise limitations and CPK blood checks? I hope to hear from you.
    Jim Ottesen

  233. Jim Ottesen
    October 19th, 2009 at 21:46

    @rebecca Roark
    Rebecca,

    I agree with Ross. Call MDA. Also call your closest hospital to
    see if they have a neurologist on staff that can handle McArdle’s
    Disease – or if they know of one. Ask your urologist if a
    nephrologist consult is in order. Keep pushing until you get
    some answers. High CPK. pain,and exhaustion are hard to live with -
    you need a break. It sounds to me like you may have multiple issues,
    but STEP 1 is to get an expert in neuromuscular disorders. Please
    don’t delay and keep us posted. Thanks. Jim Ottesen

  234. rebecca Roark
    October 19th, 2009 at 19:38

    Jim i read your other entry on the other page. I am constantly in rhabdo that’s why my rumitoligist believes my kidney’s will fail iv’e been in the hospital i don’t know how many times my stay is anywhere from 2 days to a month and my cpk never comes down enough even if i don’t even get up to go to the bathroom that’s just laying in the bed. The dr.s have got to where they don’t even admit me anymore for my rhabdo because it doesn’t do any good. And i’ve never seen a nuerologist. No one has even suggested that before. And about becoming addicted to the meds. I have thought about that to the family dr that treats my pain keeps it very regulated i have a addiction counsler there at the office and a pain group the dr requires i think that’s a great thing for anyone who has to take pain meds. just one more thing about the cpk when i’m in the hospital it keeps going up instead of down even though i’m on constant iv fluids and other meds to flush out my system. I am trying to find a nuerologist i think there really might be something going on with me besides just ‘m’. Thank you for your concern having someone to talk to that understands helps alot.

  235. rebecca Roark
    October 19th, 2009 at 17:44

    Russ i know exactly what you mean about being acused of being a drug seeker One time at my er i had to refuse to leave i told them that i was in so much pain that i couldn’t move and they were giong to help me. When they seen that i was serious they admitted me and gave me iv pain meds and ajusted my home pain meds. I think most of it is the er doctors don’t know about ‘m’ and they think there is nothing wrong. I’ve atually had them tell me that i was faking and to grow up. That’s when i gave them the web address to this site and told them to call my family DR and my speialist. I know how the pain is and how most dr will treat you. Just don’t give them a choice to treat you like your a drug addict. You know how you feel and how much pain yor in and only you so you have to let them know. I’m not saying be mean and rude just trust yourself and if you feel like you need to go to the er then go.

  236. rebecca Roark
    October 19th, 2009 at 17:13

    Ross its nice to know that im not the only one around here. The only DR that saw me was DR. Beekman a rumatoligist. He told me i was the only one but he also told me he didn’t know how to help me are what to really do. I have tried to find someone that knows something about ‘m’ but i haven’t been able to i need someone in the high country of nc or no farther than Winston ‘thats 2 hours away” Can you give me the contact info for Dr. Caress thanks or your comment.

  237. rebecca Roark
    October 19th, 2009 at 17:07

    Jim i am 21 my cpk does not ever go below 2000 and stays around 9000 The highest is 85000. I don’t know what it is but my level refuses to go to normal. As far as my exercise level i try to clean my house and sometimes play with my kids but that is the extent of what my muscels will allow. Growing up i had several surgerys because no one knew what was wrong appendix, gallbladder, tonsils adniods, ear tubes. And i thought that maybe that might be why ‘m’ gets me so bad I try not to dwell on it but i really don’t know what to do. At the DR the other day my urine was really dark for the first time but i haven’t heard anything about my results from that or the blood work. And does anyone have episodes where your musceles refuse to work i have alot of episodes where i can not move my legs are arms they get stiff and really thight and i cant move.

  238. Jim Ottesen
    October 17th, 2009 at 04:28

    @Denise Hodges
    Denise, #133 refers to hand weakness, but in answer to that question,
    depending on the level of enzyme remaining in your muscle cells (if any)
    and depending on the activity prior to movement, weakness in the hand
    would certainly be possible. In my own case, I could not even lift
    my legs and could have become a frozen statue on a street corner at
    the Cleveland Clinic one day in February. However, I believe you meant
    to indicate # 138, which I will try to answer. The best location to
    take a McArdle’s Disease biopsy is the middle of the thigh
    muscle. Often, a needle biopsy will do the trick, but some doctors still
    insist on the operation format to remove more muscle tissue. While
    several tests may be performed to see if another disease exist, you should DEMAND that they confirm or rule out McArdle’s Disease. Often,
    Mitochondria Myopathy may look like the culprit, but is not! I would
    also suggest that your son did not fail the ischemic forearm test. I
    might have also been “totaled” after 30 seconds as well. No, the
    purpose – which is known by now – is to determine the relative response
    of lactate levels when compared to a normal (no “M” disease) person.
    I would want that information before you go to the biopsy step. Cramping
    in the calves is not a surprise – in fact – it is a problem I experience
    every night. In view of their intent to biopsy the biceps, the fact
    that you do not have the other results I would suggest you question the
    qualifications of the team directing this procedure and the number of
    patients they have identified with “M”. Why do they want to do the
    biceps instead of the preferred thigh muscle? Again, I am not a doctor,
    I am just a patient who has learned a lot by reading and by experience
    and I want to help people. Please let me know the results of the ischemic
    test, the levels of CPK and where the procedure is being performed.
    Also, let me know if you have any questions. All is probably OK,
    but it is your son and you deserve some answers. My very best wishes
    are with you and your son Jim Ottesen

  239. Jim Ottesen
    October 17th, 2009 at 03:35

    Bebe: I am so very happy things are going better for you! I do hope you can get to Dr. Haller as he is a real expert and will get to the root of your problem. Mention that we are “pen pals” and that might
    help. The amino complex sounds good and I may start a program of same
    for myself. Prayer IS the path to guide you through this disease, but,
    despite the poor advice so far, your determination will help reveal the
    actual disease that is following you today. That starts with an appointment with Dr. Haller. There are some eye issues related to
    the bad “M”, but it seems you are much better now so perhaps that issue
    can be put on the back burner for awhile. Together with a complete
    blood chemical profile, you need the results of a CPK blood test for
    the doctor. The magnesium is good, but be careful to not exceed the
    daily limit by too much. If a person does have “M”, the B-6 (to 100 mg)
    is very important. If your doctor approves same, you should start it
    as soon as possible. Let me know how things are going. Jim Ottesen

  240. Bebe
    October 17th, 2009 at 01:55

    Jim, thanks for your comments. Yes, I found the info regarding the doctor in Dallas. I live in Texas so that is an option. Right now I am doing better, bad days and good days, both without specific exercise, but I am able to do routine things. I am taking l-carnitine as well, along with an amino complex (20 amino acids), and something for brain energy which has l-tyrosine and l-phenylalanine in it. I also take quite a lot of magnesium for the muscle pain, and that with the l-carnitine seems to help the pain a great deal. I also want to thank God for His marvelous help. I believe in prayer and He has helped me in so many ways, so many times. You’re right. I have not had an actual scientific diagnosis by a doctor; the tests are either negative or inconclusive; they all seem to think they just know what it is, or they are stumped and just make guesses. The neurologist said neurology is a trial and error science. Anyway, I am grateful that in my own research I discovered these amino acids that seem to be helping me greatly. Oh, another thing: one reason one of the doctors thought I had MS was because my left eye stayed dilated almost all the time, but since I have been taking the amino acids, that has gone away completely. My eyes had been extremely sensitive to light for about a year and dilated for months. They are fine now. I don’t know how this relates to McArdles, but it’s my experience. I will keep you posted. Thanks for listening and offering your comments. Bebe

  241. Jim Ottesen
    October 16th, 2009 at 19:32

    Ross, May I ask what levels of the L Carnitine and L Alanine you take
    and were they prescribed by your neurologist or suggested by the MDA?
    I am interested as I have read of them in the past and am curious as
    to how they can help our conditions. You mentioned that they cut your
    injuries down and that’s great, but do you mean to our muscles? I just
    wish they would perfect their experiments to enable a way to transfer
    our missing enzyme from some animal or make it synthetically in a test
    tube. Maybe some day. Rebecca, any good news? Bye. Jim Ottesen

  242. Ross
    October 16th, 2009 at 06:01

    Rebecca, I was diagnosed at Wake Forest Medical center in 2005. I was given the news by a genetecists although I can not remeber her name. But Doctor Caress a neurologists was the doctor that suggested that I may have the disorder before testing. He runs the local chapter for the MDA in Winston Salem. Duke University was actually the ones that found it in the samples taken and sent to them. I have tried every thing mentioned above but L Carnatine and L Alanine is the only thing that cuts my injuries way down.

  243. Denise Hodges
    October 15th, 2009 at 03:17

    Jim, Could you please refer to my question #133 above and if you know the answer, please reply? Thanks so much.

  244. Jim Ottesen
    October 15th, 2009 at 02:00

    @Bebe
    Bebe, Your case is very interesting. Have you had the biopsy
    for McArdle’s? Your complaints sound like the bad “M”, but also
    suggest the possibilty of other issues – particulary fibromyalgia.
    It seems to me that your need your neurologist to rule out the
    aforementioed diseases by biopsy and medical testing. Late onset of
    McArdle’s is not unusual, but we need more facts and a biopsy, ischemic
    forearm test and average CPK levels. All the meds you take and have
    taken sound like some doctors that are responding to complaints with-
    out a solid confirmation of a specific disease – I’m familiar with that
    pattern of response. This site gives you the names of some doctors who
    will give you nothing until your disease is proven by testing. It is time to make the move up to defining the real issues so your life can
    begin the journey of living successfully with the bad “M”. Let us know
    your results, their suggestions and how we can help. Jim Ottesen

  245. Joseph McCarter
    October 15th, 2009 at 00:48

    Hello,
    I am 24 years old and have many of the same symptoms as McArdles disease but it doesn’t quite match. Since I was a kid I would get muscle ‘stiffness’ and cramps usually after swimming or long walks. It didn’t result in rhabdomyolysis with myoglobinurea until I was 14 after a basketball game. I continued to struggle with these episodes throughout my teens and have been hospitalised twice (bedridded more times than I can remember) when the rhabdomyolysis was so severe I couldn’t even move. I finally saw a doctor at Johns Hopkins who did the forearm test mentioned above and a muscle biopsy but both were inconclusive. With my condition, I have all the same symptoms of McArdle’s except for the “second wind” scenario I’ve read about and fortunately I haven’t had renal failure. I have found that isotonic sports drinks like gatorade, powerade, etc …, do the trick so I’m probably their biggest customer. I don’t know if it’s the sugars or what that they contain, but if I drink them preemptively, most of time I’m ok. But I still have to watch my exertion levels because I just can’t handle it, which is pretty demoralising having been an athlete and hiker for years.
    Maybe someone else has a similar sounding condition as me. I’d appreciate any useful feedback or ideas.
    Thanks – Joseph

  246. Jim Ottesen
    October 15th, 2009 at 00:13

    Rebecca, I agree with Lucy on many issues. In fact, every day I take my
    egg protein (egg whites) powder scoop which is mixed with carrot juice
    and my greens mix for an energy boosting juice that helps your muscles
    and your whole body.However the matter of exercise for you is of concern
    until you provide more answers to my questions.You need to be very cautious with your exercise. You suggested that you have a physician
    who has been treating you – is he familar with the rearch done for
    McArdle’s patients? If not, perhaps a consult with Dr. Slonim or
    Dr. Haller in Dallas, Texas might be instructive. I feel, for the
    time being that a low level of cardiovascular exercise – approved by
    your doctor – is essential. However, I stil need the basic answers
    to move forward. You can reach me here, of if you prefer, jott440148
    @aol.com. Jim Ottesen

  247. Lucy
    October 14th, 2009 at 12:44

    Rebbeca, I have found out through out my many trips to Dr. Slonim that if I was dignosed with any kind of Kidney problem to see him first before doing anything because many people with McArdle’s are misdignosed because of the disease so seek a second opion from a Physician who has knowledge of McArdle’s. Second if you do not have to get a handicaped sticker do not, just take your time to get where ever it is your going if it take 5 steps at a time and 15 stops to get there that is what you need to do. If you let this get the best of you it will. I have do the high protein diet and it seems to work for me. You can learn to use other muscles to compensate for the muscles that have deterioration. I have see people with the proper help go from pain and in a wheel chair (being treated for MS)to milder pain and walking. I have helped my husband build our house, lifted trusses, push mowed the grass, climbed steps at Mt. Washington in New Hampshire, ect. I will not let this get the best of me! So the key here is to seek a physician that is knowledgeable in McArdle’s and work up slowly to an exercise that is comfortable for both you & your physician.

  248. Jim Ottesen
    October 14th, 2009 at 00:11

    Rebecca, You are so very right – few physicians even know McArdle’s
    Disease exists. Those that do are almost always neurologists -
    most at major medical centers. I’m sorry the biopsy confirmed “M.”
    There is rarely just one thing that gives an “M” patient complete
    relief, but there are many little things that might help. Because you
    are worried about your kidneys, be very careful of physical stress -
    know your limits and do not be brave to test those limits. Next, drink
    lots (within normal limits) of water – it will help to flush your kidneys to minimize risk. Do you work or go to school? How old are you?
    If you drive, get a “handicaped sticker” to avoid long walks. When and
    why do you have pain? Is it localized or all over? Ask your doctor if
    you can take 100mg of B-6, CoQ10, a multi-vitamin and a good greens formula. If he says “OK” which I suspect he will do, get started toward
    changing your life. It is easy to get discouraged with “M”, but that does not help you. Only a program to start moving forward will improve
    things for you. Don’t take any more pain pills than you need and try
    real hard to know when and why the pain comes. How high is your CPK and
    how often? Ask your doctor about the relatively new medicine that
    enhances energy without too many side effects. I can’t remember the
    name, but my neurologist said she would prescribe it if I wanted it.
    Minimize sugar, coffee, salt and stabilize your weight. Well, that is
    a start, but check with your doctor so we can push forward. You
    mentioned you had physical therapy – for how long – and what was the
    objective? To try for “better” – we must understand where you are now.
    I am not a doctor, just a person who has been around a while and one
    who cares about any person suffering from the bad “M”. Jim Ottesen

  249. rebecca Roark
    October 13th, 2009 at 22:15

    for jim thanks for the insight its just most of time i feel so misunderstude and scared i live in nc and one of our biggest hospital wake forest babptist medical center said im the only person with Mcardeles thev’e ever seen and don’t know how to help me so my family doctor just treats the pain and thats about it, i think the only reason he does that is because he doesn’t understand whats wrong with me and all he knows is that i tell him im in pain. i read your blog about b-6 i’ve tried that extra sugar c0q10 speciel diet and nothing seems to help it seems like the more i try to help the diease the more it brings me down.

  250. Denise Hodges
    October 13th, 2009 at 02:28

    My 18 year old son will have a biopsy next Wednesday to confirm what high CPK results, twitching/cramping/fatigue symptoms, and a failed forearm test pre-diagnosed McArdle’s today at the neurologists.(Exhausted after 30 seconds of squeezing). My question is: does the biopsy usually come from the bicep? My son has most cramping from calves and I wonder if the biceps will show the same results? Is this the most common muscles to biopsy?

  251. Jim Ottesen
    October 12th, 2009 at 20:19

    @Sandra
    Sandra, Did you ever get an answer on the use of ATP with McArdle’s
    Disease? I have a nutritionist who feels ATP mifgt have some potential.
    Please let me know any thoughts on this. The one thing we should is
    take B-6 to 100 mg. Other ideas? Jim Ottesen (jott440148@aol.com)

  252. Jim Ottesen
    October 12th, 2009 at 02:40

    Hi Russ, Rebecca, Erica and all of you with the bad “M.”

    I am 72 and have had “M” since birth. I am lucky to be alive today
    as our “wonderful doctors” seem to feel most of us have something
    other than what we really have. By the great Cleveland Clinic, I
    was told I had “mitochondrial myopathy.” I did not. Others said I
    had “Rheumatic Fever” – wrong again. Finally, after a painful, second
    leg biopsy, Dr. Haller of UT medical Center in Dallas, Texas correctly
    diagnosed the bad “M.” The point is most doctors are too busy to do the
    rather simple research to find the real problem or to refer away a
    patient with a high CPK, pain, leg cramps, etc. A few well-targeted
    questions and the answers start to open up. The point is “we” must
    spread the word to the medical field any way we can to recognize
    that “M” exists and there are specific things we can do to improve
    our quality of life. Many of you have mentioned the times when you
    were told you were lazy – that’s so very sad. In my own life, failure
    in sports, backyard tag, helping the wife with chores, taking a walk
    around the block and not being able to finish and nearly drowning
    three time have given me a new understanding. Yes, there is psychological pain, but the joy of an explanation helps a lot. As
    for most of you, you now have the answer. A new world includes the
    ability to adapt, to accept the facts and to recognize YOU must denand
    from your expensive doctors the answers on nutrition, vitamins, diet
    and exercise. If they will not help, find someone who will. That has
    been my course. Some little things I have learned which you might want
    to check: B-6, light exercise every day you feel up to it, more protein,
    a good greens formula, drink more water, a good multivitamin, 8 hours of sleep every night, less salt, less sugar, less caffeine, no smoking,
    read more on “m” and be glad you’re alive. Obviously, you need to TRY
    to get your doctor’s approval on what you do – if he will help you.
    Well, that’s enough out of me for one posting. Good luck to each of
    you! Let me know your results! Jim Ottesen

  253. Ross
    October 11th, 2009 at 05:57

    Russ Sharp,
    Many times I have been told “I was just being lazy”. Before I was diagnosed I had been in our local ER many times for extreme and undescribable muscle pain. I was quickly labeled as a pain med seeker which became a problem when I had compartment syndrome of the lower leg. The doctors put me in a room and let me suffer for 3 days before I demanded a specialist to come and look at my leg. 20 minutes later I was in surgery and nearly lost my leg because of the time that had past. The surgeons did there job after they were notified about me. The doctors didn’t. To all that reads this…This is why it is so important to find out what is going on with your body. Get the test!

  254. Russ Sharp
    October 8th, 2009 at 12:04

    Has it really been this long since I’ve done any web inquiry about McArdle’s disease?
    The main resource for info during my wife’s first pregnancy over ten years ago was thru the Muscular Dystrophy Association. (By the way, the MDA recommendation of a glucose IV during labor was definitely on target–to keep the voluntary muscles from going into energy debt.)
    Have any of you dealt with the “Oh, you’re just being lazy!” responses from people before you were diagnosed? My wife even had that reaction from a rheumatologist!–but after the diagnosis, he had the audacity to ask if he could test the rest of her siblings to do some research on McArdle’s. She’s the only one of all of her siblings to be officially diagnosed, but one other could tell his own stories.

  255. erica
    October 7th, 2009 at 19:45

    just went to get blood drown
    but have any of you ever had to move your hands a way to keep them form going week as you do things

  256. erica
    October 7th, 2009 at 19:32

    hi,im a 13 year old girl who was just diagnosed about 2 weeks ago and it has been very hard to do act how i am, but this all started bout 1 mounth ago after i got a cold, i realy like hearing you guys story

  257. rebecca Roark
    October 6th, 2009 at 17:44

    I had the biospy and was diagnosed but the vitmins don’t help me or extra sugar or physical therapy. My cpk don’t ever go back to normal i have chronic pain and chronic fatigue i take pain meds they help some but not enough what do i do and is thier anything i can suggest to my doctor to help with energy most days i don’t have enough energy for anything. I haven’t had kidney failure yet but my specilist said that because my cpk want come down that my kidneys are constantly being damaged is their something i can do to save my kidneys

  258. Jim Ottesen
    October 6th, 2009 at 03:01

    David, I’ve read some of your postrings and am concerned that you are taking vitamins which may or may not be beneficial if you have McArdle’s
    Disease. Your EMG does not give a definitive diagnosis of McArdles. The
    “gold standard” is the biopsy by a top neurological team as Lucy suggested. Only then should you begin vitamins, supplements or
    medication designed to be beneficial to a McArdle’s patient. Earlier,
    I posted some suggestions for those who have the disease – they can be
    helpful. Mostly, you need a firm diagnosis – by biopsy. Let us hear
    your results. Best of luck. Jim

  259. rebecca Roark
    October 3rd, 2009 at 17:22

    This is for June I was diagnosed with McArdles a year ago but i have two little boys one is 4 and very healthy normal pregnency and no problems. The other is two but has lots of health concerns mental ok though the pregnecy was really complicated but dr says had nothing to do with McArdeles. so i don’t think you would have any problem with pregnency

  260. Bebe
    October 2nd, 2009 at 16:28

    Hi. In my search for answers I just stumbled onto this site. I am 58 years old. For two years I have had difficulty walking and the muscle cramping etc that is described regarding McArdles. I’ve had multiple other problems for about six years with fatigue, etc., but this is more recent. In the past couple of years I have even needed a wheelchair at times. After trying to walk a short distance I just stopped and could barely move at all. My breathing would become very labored. Then my leg muscles would hurt and burn like fire for about two days. I’ve never noticed the dark urine. At times I have a very odd gait (my husband says I walk like a rag doll or a the scarecrow on Wizard of Oz). I have had severe hypoglycemia and my doctors just tell me to eat more. Hello! I was eating every two hours very healthy food, and drinking protein drinks between meals and still losing weight.
    I’ve been treated with hormones. One doctor thought it was adrenal and put me on cortisol. One doctor thought I had MS, another a myopathy. Then a neurologist said I had a neurotransmitter deficiency and put me on anti-depressants which I couldn’t tolerate. Now, I am treating myself with amino acids and I am much better, but still very limited. I was in water therapy for three months and that helped some, but land exercise just does me in. Really it’s land use, not exercise. I was not a strong child, but I didn’t have these kinds of problems. Before this happened I could walk a brisk mile with my husband, no problems. Am I looking at a possible late onset of this condition? What kind of doctor do I seek and what do I ask? Thank you for any help and advice.

  261. Jim Ottesen
    September 29th, 2009 at 02:51

    Hi, Mac Folks,
    I’ve been away for awhile dealing with issues which I suspect many of
    us experience if we have Mac. Specifically, do many of you experience
    Restless Leg Syndrom or Sleep Apnea? I just found out I have both which
    just adds other issues to the challenge of Mac. I mention this out of my curiosity about the disease. I continue to believe that vitamins
    (especially B6 and the other B’s, a great multiple and a good greens formulation), modest exercise (within your capabilities) and a strong
    belief in your own resources will carry the day. Most doctors just
    kind of leave us to our own solutions so we must help each other,
    read all we can, drink enough water, watch your sugar and salt and
    keep an eye on your CPK – that’s our best warning light. Avoid any
    unusual muscle stress that lasts over 5 seconds – whether pulling weeds
    or lifting weights – the results can hurt in many ways. Get help or
    just say NO. I’ve torn too many muscles and broken into the thousands
    on my CPK because ” a man should be able to do “these things.” Mac
    says only if you’re willing to pay. Take care. Jim

  262. jd
    September 28th, 2009 at 23:17

    @Alex
    i was diagnosed with mcardles at the age of 13 im 23 now im learned to deal with it i was oakland children’s hospital for 3 weeks
    the doctors were dumfounded.

  263. Ross
    September 24th, 2009 at 05:08

    ~Q-Q~ Or just give myophosphorylase therapy.

  264. Bill Nelson
    September 24th, 2009 at 02:58

    Stephanie,

    That is very interesting. It also supports much research I have done on symbiotic connections for curing patients for many types of illnesses. Hook up a healthy mouse to a cancerous mouse and the tumors on the cancerous mouse disappear. McArdles could be cured in the same manner but this is a treatment that may take many years, if ever, for our medical community to accept.

  265. David
    September 20th, 2009 at 16:20

    I am taking 5 grams on Creatine Monohydrate twice daily. One doctor told me five MILLIGRAMS….but that can’t be right? The other doctor told me 5 GRAMS. That’s what I’m doing. One teaspoon…5 grams.

  266. Lucy
    September 18th, 2009 at 18:17

    David
    I had my muscle biopsy done in 1973 that is when I was Diagnosed with it. The Dr that did my biopsy knew of Dr Slonim and helped me to schedule an appoinment with him I went to him for over 10 yrs, he is a wonderful Dr. I had a lot of great progress with him. He tought me alot about the disease and how to control the swelling and cramping. I can now live pretty much a normal life. I wish you the best of luck.

  267. David
    September 16th, 2009 at 22:08

    Just had my EMG test…and it came back normal. Nice doctor there told me that he thinks I have early onset McArdle’s. What’s next for me? Muscle biopsy?

  268. Kim
    September 14th, 2009 at 19:15

    @Stephanie
    I went through two perfectly normal pregnancies with McArdles disease. There is a very good theory now that the mother’s also benefit from their babies because they are receiving the myophosphorylase that the babies make. We receive it from them via the umbilical cord just like they receive their nutrients from us the same way. I must say that I felt more like a normal person than I ever had in my life when I was pregnant.

  269. David
    September 11th, 2009 at 03:52

    Thanks Ross…
    Well, I went to the orthopedic yesterday and he did an x-ray on my right forearm that was broken 12 years ago. The x-rays were fine, and the hardware i going to stay in. I have had no pain for 3 days now in the right forearm. I explained what McArdle’s was to him, and he thinks that may be what is causing the pain (like cramping) in my arms.
    Anyway, EMG on Saturday. I might also try to make an appointment with Dr. Slonim in NYC….since I live so close. I wonder if he would see me.

  270. Ross
    September 10th, 2009 at 10:48

    Also David.. The test is just usually done in the forearm I think for ease of the test only. They just need to get a tissue sample of the muscle. I think the forearm is the most common area for the test to be performed. Remember please do not take all that I post for fact it is just in my experiences with the disease but I hope it helps. They are many genetic diseases of the muscle the only way to know is to be tested. God Bless!

  271. Ross
    September 10th, 2009 at 10:31

    David, it is common but not limited to the forearm. I have gotten very tired in my jaw chewing easy foods. It can be in any muscle. I get it the most common in my neck when I am turned around looking back in my truck as I back up. The best way to tell is if your are in fairly good shape and your legs feel like they are on fire after two flights of stairs. Many people report that steps and inclines are the hardest exercise for people with McArdles.

    Robert, I am not sure exactly what you mean by imploding forearm but I have had compartment syndrome in my lower leg that led to necrosis or dead tissue in one of the muscles. The surgeons had to remove 80 percent of that muscle. I can still walk but the foot droops.

  272. Brian Carter
    September 7th, 2009 at 20:27

    Hi,I’m 59 and from the U.K.I was diagnosed with Macardles in 2006 after 2years of blood and ECG tests gave no definitive answers the biopsy test confirmed what my Rheumatologist had suspected.I have found this very hard to understand as I was always active in my youth playing Rugby Union until I was well into my thirties, and my daytime job being a Milkman walking nearly 10 miles per day and bending down to deliver/pick up milk bottles 400 times per day.As i got into my fifties however the punishment on my body through 20 years of Rugby and 30 years of delivering milk in all weathers (usually rain here in Manchester) started to take its toll and I developed both Rheumatoid and OsteoArthritis.This I could live with as it is able to be kept at a reasonably low pain threshold with drugs. But when I started to get body cramps after very little exercise this confused me.And as I say my Rheumatologist confirmed I had Macardles, I started to look online for more information and found this website. It’s nice to know you’re not alone, especially when your specialist says it’s only 1 in 50,000 that get it,we must all have computers then judging by the number of posts.I find like others that if I stick to a fish/chicken/pasta diet with plenty of fresh fruit and veg and no red meat it seems to alleviate the symptoms, and the weather does definitely have an effect, as when it’s cold and damp I suffer more, but last year on holiday in Florida I felt 20 years younger.Anyway I know it’s a cliche but don’t let it get you down. Brian.

  273. robert
    September 6th, 2009 at 17:08

    Hi everyone,
    I was reading with interest Dave’s and Ross’s comments in particular, but as many as I can. I too use beta-alanine and glutamine, and BCAA’s
    and arginine. Anyway, I also had what I call an *imploding* forearm.
    I was having terrible pain in my forearm doing my job, which isn’t doing that heavy a workload, and one day my left forearm develeped within hours, a lump, fluid in it, and redhot skin. It is still now 3 years later, painful and use brings on pain. I had a needle in my shoulder, pain can come there also. I initially got horrific cramps in the calves that led to Neurologists. The CK was elevated, always is.
    I just recently discovered with light weights for even ten minutes, my
    CK goes up at least 3 times as high, maybe higher. I had a muscle biopsy but it was on my thigh and I usually have little problem there.
    I have more problems in calves, biceps, and forearms and shoulders. I get cramps sometimes in my feet. I have lots of fatigue, and while that has improved some, it’s still not great. I have been able to get off pain meds mostly, but sometimes it’s bad enough I have to use morphine at a low dose/tablet form or I cannot work. I did test for acid maltsse, and it’s low but not low enough for a dx of type 2 GSD.
    I seem to be more like McArdles but could be something entirely different. Nobody has done a forearm test yet, I don’t know why. I have read that late-onset McArdles can have negative biopsy, negative forearm lactic acid and or ammonia, and lots of confouding findings yet
    still the person can have McArdles. It is alot to try and sort out and
    figure out, and it’s really a drain on my mental well being, and my quality of life is not the worst, but not great, as I cannot do many things because it brings on injury or pain. I am also afraid if I do
    anything involving weights or heavy objects, I could be damaging myself.
    I moved myself last year, and actually had one bout of blood in the urine, brown urine then some red the next morning on clothing. Nothing since, but that was a time of lots of heavy exercise for two weeks straight, I had to use 8 percocent a day and codeine to get the job done. I had no help. Any thoughts appreciated, I realize you can’t get a dx or prospective dx but it’s good to get feedback.
    Robert.

  274. Bill Nelson
    September 6th, 2009 at 03:38

    Hi people,
    I don’t know if I have McArdle’s disease or not. But if I do have it or any other disease for that matter, I don’t want to know about it. I have always felt that any negative label you stick yourself with will destroy your will to live normally and do the best you can with whatever it is. But I do have symptoms of what people describe here though not to the point of death as many of you seem to have come to. But I have to say that I often feel very bad and it probably would not take much more to get to that point.

    I stumbled across this website when a nurse I know told me to research glycogen depletion when I described the symptoms I get from running. I eagerly read every single post here. And I wrote this post to share my experiences with you hoping that it might shed some light as you all have shed some light for me and together as a group we might come up with an answer to this mystery.

    I have always been athletic from a very young age at a high competitive level but I knew and the coaches knew that there was something very unusual about me. I ran track but could never train with the track team. Every time I would train with them I would break down and suffer what I found out many years later was severe glycogen depletion. This happened even when I purposely ran trained at a slower pace then everyone on the team. The symptoms were, as you probably all know, that your muscles would not function properly. That you feel lead in your legs like you can hardly walk. However, by jogging, I did not suffer such severe glycogen depletion like I did when training with the track team. And I was skinny so I raced well though it would always take me a week to recover from a race. None of my other teammates ever felt bad for more than a day or two after a race. The stupid coaches I had didn’t even know there was such a thing as glycogen depletion and would call what I had lactic acid. Lactic acid, my ass. I am still mad as hell about their stupidity to this day. That’s because if I had known about this then, I could have dealt with it much better. And the coaches were older, wiser, college educated and should have known.

    Anyway, the only way I survived staying on the track team was to jog gently for my training so that I would not suffer the severe glycogen depletion of training with the team.

    Over the years, these symptoms have become worse. Now I can get very depleted just by jogging and very often two hours after I complete an hour of jogging, I get severe locking leg cramps, which if you have had them you know is not much fun since it is so hard to get unlocked. It’s painful and scary. If your heart would lock like that, you’d absolutely be dead. And who knows, maybe some people do die like that. In the last two years, I have also had severe lower back problems to the point where I couldn’t even walk and though I didn’t think it had to do with glycogen depletion, I now think it does because I seem to be more susceptible to it when I am more depleted. Muscles all over my body are stiffer and bad things happen.

    But the thing is that if I don’t do up to an 1 hour of jogging per day, everything gets worse for me in every way — no energy, severe food craving, feeling weak and miserable. At least the jogging limbers you up, gives you more energy and makes you feel better then if you did nothing at all. That’s not to mention maintaining body weight which gets harder and harder to do as the years pass on.

    I don’t go to hospitals because to me they are a waste of time and especially money and I can’t afford it to begin with. The last time I went to a hospital, I had a bitter argument with a doctor who told me to take Tylenol to reduce inflammation. I don’t need to go to a hospital and pay a huge medical bill just to have a stupid doctor tell me to take Tylenol. He got angry and I got even angrier.

    Right after that visit, I did however take a free blood test at a trailer the Red Cross had set up. They told me that I had the lowest blood sugar they had ever seen and if I was fasting. This was two and a half hours after I had lunch where I ate a tuna sandwich, can of coke and 8 chocolate chip cookies, glass of milk and a banana. They told me that I should get some further testing done. But with no medical insurance, I’m not interested. I still have no idea what low blood sugar means.

    Making the track team years earlier, which by the way wasn’t that easy to do, and always trying to get my body to be at my best for race day, which I now realize meant having high enough glycogen to race well, has made me extremely aware of this element which I think other athletes, normal people and people who have McArdles may not be – that is always being aware of your glycogen levels, knowing what depletes them and learning what can restore them.

    Before I even knew about glycogen, I was just going by monitoring my body and seeing what would make me feel better each day like after a races when I would be badly depleted. I knew that as I felt better each subsequent day, I would then race better. I didn’t know it then, but that was all about glycogen. And I seriously and truly believe that this is a great and significant factor in all of sports, whether it is soccer, swimming, baseball, football, basketball and even golf. Knowing how to build and maintain glycogen levels for athletic performance is a significant factor that can’t be denied. You can have a super physical performance one day and two days later have the worst performance in your life because your glycogen levels are too low. It’s all about glycogen. And it can clearly explain why so many athletes and teams are so inconsistent and have bad days. I think it even happens in golf where some players go from one extreme to the other in their regular 4 day tournaments. If you are feeling miserable and depleted after the first or second day of the tournament from playing 5 or 6 hours of golf subsequent days, you are going to be much more liable to play poorly. I don’t think anyone really understands how significant glycogen is in sports and even academics where if you are feeling bad, you may not be able to study or think as well as when you are feeling good. Body does affect mind.

    I also find it interesting how many people here have said that warm weather seems to make them feel better. I have observed the same thing. But I have a theory about that that might have something to do with water loss on hot days in that the whole cycle of losing more fluids on hot days and then drinking and replacing fluids helps restore your glycogen levels. I don’t have access to a sauna or steam room but perhaps someone here who does could regularly do the sauna or steam room during the winter months and report back here to see if this helps and my theory might holds water so to speak.

    So here is a list of what I think people with McArdle’s should be aware of.

    1. Any hard or severe physical activity will result in glycogen depletion no matter how great a shape you are in. Expect it. You can’t avoid getting depleted all the time. It’s a fact of life. I think everyone gets depleted to different degrees sooner or later but McArdle’s people’s reactions may be 10 to 100 times more severe.

    2. You should be able to feel and know when you are depleted. When that happens you should be especially careful not to do anything physically hard because at that point your muscles won’t function properly so you will be very susceptible to injury like tearing muscles or possibly like I have tripped and broke my arm because I couldn’t pick up my legs properly. Sometimes people’s wills are stronger then their bodies and they try to push themselves even though they are feeling bad. That is very very dangerous.

    3. Be consistent in your physical activities. Inconsistency will result in greater glycogen depletion. Laying around the house for two or three days doing nothing and then do some strenuous chores or some creational activity will surely lead to bad glycogen depletion you didn’t expect.

    4. If you are involved in sports like the guy who wrote about his softball tournaments or any other sports for that matter, it is a very bad to deplete yourself a day or two before your competition. To come into competition with low or no glycogen will result in nothing but a nightmare in your performance with a good chance of injury. There should be no severe last minute training.

    5. Your glycogen levels in life will always be cyclical. You can’t always avoid glycogen depletion so you have to work on restoring glycogen levels? Basically I have discovered that rest is not enough. I have discovered that glycogen restoration happens much faster when there is light physical activity. I think of it in a kind of metaphorically way like a sponge. Light squeezing of the sponge in water fills it back up where as no squeezing makes it take much longer to fill. Just as severe squeezing of the sponge makes it take longer to fill back up.

    Finally, I would be very interested in knowing if any of the supplements people take can make a difference in restoring or maintaining glycogen levels. But I have a feeling that it doesn’t. It’s just that people might associate a natural recovery they would have had anyway with the supplements they are taking at the time they are recovering. But if there is some drug that would keep us from suffering such severe depletions I would surely love to know about it.

    I hope this post helps.

  275. David
    September 6th, 2009 at 02:40

    I appreciate everybody’s advise while I struggle with this pain I have. I have my EMG a week from today.
    Ross….I noticed how you mentioned you had forearm pain. Is the forearm a common place to experience pain with McArdle’s? I ask this because by right forearm has been hurting really bad for the past 10 days! I am going to the ortropedic Wednesday, because the pain is centered around the part of my arm that I severely broke 12 years ago….and I have been living with a metal bar in my arm for the pasy 12 years. It began bothering me a little 2 years ago, and I went to the orthropedic who did my surgey 10 years prior. He told me that this was commom…and that maybe the metal bar had run its course and it was time to remove it. As I said, I will be going to that same orthropedic who did my arm surgery 12 years prior, and ask what he thinks about the pain and the metal bar coming out. However, after seeing that Ross (and I think a few others) had forearm problems and pain due to McArdell’s, I am wondering if the pain no has nothing to do with my surgery and the metal bar? Maybe it is McCardel’s? The pain i only in the right arm….where my surgery was done. Not me left arm…yet..I hope!
    Isn’t there a forearm test for McArdle’s? Why the forearm test? Is that because the pain is most common in that area?
    Thanks,
    Dave

  276. Ross
    September 4th, 2009 at 07:02

    David…….. I am not suggesting to go against doctors orders but in my experience the creatine never helped me and I found it rather yucky after a month of it but I have found that l carnatine and l alanine amino acids have helped me more than anything so far along with walking and light exercise each day when possible. The l carnatine I buy in pill form at Wal Mart and the l alanine I buy at GNC “Beta Alanine” is the brand. The doctor can also prescribe a pharmacy grade alanine. As always discuss this with your doctor and get the genetic test. Duke University Medical found it in my genetic test and I did not have to get the biopsy. It is not always strenuous exercise that brings on the cramping for me. The last attack I had in my forearm was from driving in a (1) tomato stake with a 4 lb hammer. 3 days of pain that vicodin would not help.

  277. Ruth McKellar
    September 2nd, 2009 at 04:28

    David…I agree with Glen. I too had a muscle biopsy and then had to go see a geneticist. Now I am and have been since fall of 2006, undergoing genetic testing. They have isolated the one gene and are still working on finding the second one. I got McArdle’s Disease from my parents. Both of them have a recessive gene that caused me, #1 out of 5 kids, to get this disease. I am 51 yrs old and had a fall in 2006, which ended up putting me in the hospital for 8 days. My CK level, at that time, was 40,000. So get referred to a geneticist. :)

    P.S….my previous post was a reply to Carla B.

  278. Ruth McKellar
    September 2nd, 2009 at 04:14

    ask to be referred to a neurologist and a geneticist a.s.a.p….they will find out for you what it is….a few tests may need to be done, but if it is McArdle’s Disease, they will find it
    hope all goes well for you

  279. Dick Bridgewater
    August 31st, 2009 at 21:06

    I miss my spell chek program. I hope I was clear on my original submision. I had never heard of Mcardle’s Disease til yesterday, Aug. 30 when there was an article in our local paper by Dr. Gott.

  280. Dick Bridgewater
    August 31st, 2009 at 21:03

    I was diagnosed with “Paroxismal Paralytic Myoglobinuria” in 1957 when I was 24 years old. I am now 76. I wonder if I was misdiagnosed and in actuality have Mcardle’s Disease? The symtoms are nearly identical to most Mcaraadles sufferors.Swollen,painful muscles after exertion , Coke ored urine. Three to four day recovery period. The malady can involve any volentary muscle, even chewing food. Unable to enjoy sex in the missionary position. Unable to perform even the simplest tasks. The oldest I saw to reply was Mike who at 62 has noticed no effects of age and I had learned to keek the condition benigh. I was able to walk and after an initial fatigue, would recover and could cover several miles. I don’t want to frighten him as I may not have Mcardle’s but at 62 I had not noticed a worsening of the condition. However, as I have gotten older I have become more and more imobile. I have dificulty walking from room to room in my home, I could not think of shopping at any store that does not provide electric carts. I grew up on a farm handling hay bales and sacks of feed and seed with no problem. I later worked in construction and had little trouble till approximateled age 23. I was in the USAF then and on my first sick call, was told I had a “Charley Horse” and to work it out. Anyone who has experienced the pain and swelling knows it can’t be “worked out”. I was accused of being a “malingerer” , sent to the hospital to prove it, and could have hugged my Dr. when he agreed that I did indead have a medical problem after putting me through some very painfull exercises including “Deep Knee Bends”.The pain and paralysis was nearly instant and my urine trned a very dark color. I had a muscle biopsy but I wonder if the Dr.s in those days knew to test for Mcardle’s. The Dr. who made the diagnosis is now dead and most Dr.s I talk to give me a blank stare when I mntion my prior diagnosis. I would like to hear from others who have reached my age to see what their physical condition is and did it deteriorate from mid 60′s on?

  281. Glen
    August 26th, 2009 at 17:31

    David. My Opinion and suggestion is: Insist on going strait to genetic testing instead of the muscle biopsy. Its a waste of time and MASIVELY PAINFULL. If the muscle biopsy indicates McArdles, they’ll make you get genetic testing to confirm anyway. If I’d have known what I know now, I’d have made them bypass all the tests that “suggests” McArdles and made them go strait to the painless and DIFINATIVE genetic testing.

  282. David
    August 24th, 2009 at 22:23

    Also, my doctor wants m to take Creatine…5-10 mg a day. I cannot find it anywhere. I went to the GNC and the Vitamin Shoppe, and all they have is Creatine in HUGE doses(like for bodybuilders). I told my doctor that, and he was a lso a bit confused. He asked me to ask some of you on websites like this…where do you get your Creatime from, what is the bran nme, and how much do you take? Where do you get the 5-10 mg of Creatine Kinase each day?
    Thanks.

  283. David
    August 23rd, 2009 at 04:49

    Before yesterday, I had never heard of McArdle’s. Yesterday a specialist saw me, listened to me, looked at my lab work, etc., and told me there was a good chance I had something called McArdle’s disease.
    He wants me to go get more lab work in 2 weeks, and see a sports/muscle specialist. Then, if he doesn’t like what he sees, he will do something called an EMG test. Finally, if he is still not happy with the results, he will send me to have a muscle biopsy.

    Anyway, here is my story:
    I am a 36 year old male who teaches elementary school physical education. I live in Connecticut, not too far from New York City. Growing up, I played all types of sports. Almost all the men in my family were very good athletes. I really don’t remember having any physical problems from exercise….except maybe cramping in my calves and the “fallen arch” thing after playing basketball in 7th ot 8th grade. I lived a very normal, active, and pain-free life.
    Until the summer of 2005….at age 32….that’s when it hit me….

    It was a sweltering hot summer day four years ago, and I had just finished pitching two softball games. That’s what I do for fun…I pitch…and at a very competitive level (tournaments, etc.) Even though it us underhand, I play with/against very good teams, and it can be tiring and stressful. However, I didn’t know that at the time…but I found out when I got home that night.
    When I got home that summer night in ’05 I was sweating like crazy….I took a cold shower, but it didn’t take. I continued to sweat for a few more minutes after I got out of the shower and into the air conditioned family room. I knew something was wrong…and then IT started.
    All of us a sudden I get the worst cramps/spasms (whatever you want to call them) in my quads. Then they moved to my calves. Then theyr moved to my stomach. Then my hands. Then my feet. I have never been shot by a sniper before, but that is what I imagine it would feel like. I tried to stretch throgh it….it didn’t help. Then I tried just to lay down on the floor…it didn’t help. I had never felt so helpless and I couldn’t imagine a pain worse than what I was feeling.
    I reached for the phone and dialed 911. The ambulance came and too me to the ER in the hospital. I was admitted and stayed 3 days in the hospital. They pumped IV after IV into my arm. The diagnosis? DEHYDRATON.
    Two years later, in the summer of 2007, it happened for the 2nd time. My co-ed softball team had just won the state championship on a hot and humid Saturday in August. I pitched all four games. I was also running around the bases like crazy that afternoon…getting hit after hit…running hard from home to second, first base to third base, second base to home plate, etc. I was on fire….I guess in more ways than one.
    Shortly after the games had concluded that day, we hung out by the field to enjoy our hard work with some laughs. However, I would not be laughing 10 minutes later…far from it! I felt the same feelings coming on I had 2 years prior. I left the field and took a painful ride home…a 10 minute drive. I didn’t want to cause a panic at the field, so I got in my car..knowing full well that IT was happening again.
    When I got home, the pain was unbearable. It waa actually worse than the first time…as now I ws getting pain in muscles that I never knew existed! Cramps in my face!
    Again, I reached for that phone, and, again, I was taken to the ER. This time they did not admit me. I was home in 6 hours…after they pumped some fluids into me. I remember the doctor in the ER telling me that cannot afford to have another heat related injury. He said that I need to load up on water before and during games. He said my CK levels were too high. I had never heard of a CK level and I don’t remember what the numer was. Luckily, like the first time, I did not have any serious kidney failure. For the 2nd time in 3 summers….I had been hospitalized and diagnosed with DEHYDRATION.
    I vowed never to let this happen to me again. For the next two years, I hydrated myself very well.
    However, it happened again last month. For the third time…I was hospitalized as the cramps/spasms came over my whole body.
    Where and how did it happen? You guessed it….I had just pitched 3 consecutive softball games in the state sectionals. No break between games. Same field.
    Things were confusing this time, however. I HAD been hydrating myself….before and during the games. I had about 80 ounces of water in me over a 5 hour span. However, I had no electrolytes in me….perhaps Gatorade would be better?
    Anyway, after our third game, we finally had a 3 hour break before the champonship game. As I was drinking my water and eating a healthy lunch and fruit before the championship game, it began to happen. In front of everyone. Awful muscle cramps in my quads, then, my sides, them my calves, then my fingers, them my toes. You get the idea. A friend called 911 and the ambulance came and and treated me in front of everyone. teammates and opponents thought it was funny…as they snapped pictures of me laying there in agaony for their facebook amusement.
    The cramping got worse in the ambulance and even worse in the ER. The first doctor who saw me said the same thing as the other two doctors. DEHYDRATION! But I wasn’t completely buying it this time. Not after I had taken the extra precautions by drinking all that water. I knew there was something else wrong with me. There had to be. I was in decent shape…and for the third time in 5 summers I end up sweating through my shirt like I had just been in a war in the desert and i was experiencing those terrible cramps.
    Well, the doctor in the ER who said I only had deydration left…I think his shift was over. A new doctor came along and, while they pumped sodium bicarbonate in one arm and an IV in the other arm, asked me an interesting question. He said “David, I see that you told the nurse that you are on cholestorol medicine for about 5 years. Did you know that those statins in the medications can cause serious muscle damage and breakdown?”
    I was shocked. In fairness to my GP, I was not getting my blood work done as often as he wanted me to get it done. I didn’t know statins could be bad! That said, I was admitted to the hospital (again, this is just 6 weeks ago). That nice doctor told me that I had something called rhabdo. My CK levels when I first arrived at the hospital were 2,000. He said that I would be staying here a while. The cramping last about 3 hours.
    They did blood work on me every 6 hours, and the doctor did not like the way my CK level were trending. Even with the IV, they were not coming down fast enough for his liking. I run my own summer sports camp, and I already had someone cover for me on Monday. By my third night in the hospital, by CK levels were down to 630. He said I can be released if I wanted to, but he made me promise him that I would follow up with GP later in the week, and that I would STOP taking cholestorol medicine. (By the way…I didn’t even need to be on the statins, as the doctor in the hospital informed me that my cholestorol was only 105…fown from 280 a few years ago.) Again, it was my fault for not getting the blood work done.
    Anyway, I go and see my GP and he has me do the blood work. His office calls me the following week and says that my CK levels are now NORMAL. YES! He wants me to get another CK level test in 3 weeks.
    So, I get the blood work done last week. I get a call from his office last week and they say that my CK levels are 1,710. I couldn’t belive it. I had stopped the statins, slowed down my softball playing (pitching is a lot more demading than standing in right field!), and drank plenty of electrolytes before I preformed any type of exercise.
    I asked the nurse on the phone “What does this mean? Do I need to stop playing/exercising (light bike work at the gym, light weights) right now?” She called me back and said the doctor would like you to see aother doctor in this office who specializes in things like this. She told me not to exercise or play in the meantime and to come in Friday (yesterday) to see this specialist.
    That’s when I heard the term McArdle’s for the first time. I drove home, googled it, and came to this fantastic website!
    Anyway, sorry for rambling.
    Does anybody have any suggestions for me? Comments? Ideas? Thoughts? If I was reading this about somebody else I would shout “STOP PITCHING ALL THOSE SOFTBALL GAMES IN THE SUMMER!” LOL. Those are the only 3 times that I was in agony. There IS a common denominator!
    It is not confirmed that I have McCardle’s yet. He said I can do light exercise in the meantime.
    Thank you for reading and i wish everybody the best.
    -David

  284. Dillon G
    August 22nd, 2009 at 23:31

    I am 22 and I am a avid runner since 7th grade, I have had problems with discolored urine after my runs since 9th grade, especially long runs. I also have problems with fatigue and muscle soreness. I have never had some of the severe problems like some on here but has anybody else experienced a constant occurrence of rusty colored urine after exercise?

  285. Terra
    August 22nd, 2009 at 16:54

    I thought I already posted, but I must not’ve hit comment. My fiance, Justin, is 25 and was diagnosed with McArdles back in February of this year after going into rabdho from having a seizure, sending his CPK above 100,000. He had a another seizure last week, again, sending him into rabdho and his CPK up over 200,000. The doctors have done MRI’s EEG’s and all kinds of tests to figure out why he is having the seizures, but all of his tests have come back normal. I was wondering if anyone has any information on seizures being related to McArdles and what (if anything) can be done to prevent them. I have searched online, but haven’t found anything about McArdles causing seizures. But of course since nothing else fits, that is the reason doctors are giving us for them and just upped his meds to prevent them. Any info would be GREATLY appreciated!

    Also, to everyone who’s posted with McArdles, my heart goes out to you. Justin always says “I just want to be normal.” and it hurts me that he feels so different. I can’t imagine how frustrating this can be.

  286. Stacey Reason
    August 21st, 2009 at 23:32

    Just to share with everyone – the AGSD Conference is being held Sept 11 & 12 in Denver Colorado.

    It is going to be a unique opportunity – having 3 of the world’s top three McArdle doctors there – Ronald Haller (US), Ros Quinlivan (UK) and John Vissing (The Netherlands). Apart from hearing from them, we have a chance to influence their drafting of a care guideline for Type V.

    There are about a dozen McArdles pts going thus far – it will be a wonderful opportunity to meet others and share information.

    You still have time to book – http://www.gotcornstarch.com

  287. Dennis
    August 21st, 2009 at 20:02

    Hello!

    I’m also a McArdle’s “sufferer” and was diagnosed at 16. I’m now 38. And like many here, i was ridiculed as being “too lazy” or the ever popular “you’re just having growing pains” LOL. Riiiight. I’ve had issues ever since I could remember and the pain was always excrutiating. It wasn’t until i had the Rhabdo episodes when i was 15 or so that people (even my parents) took me seriously. My CPK shot up to almost 200,000 at one point. Now at 38, i am doing well and eat regularly and really need to do some exercise :) . I have learned to pick up on cues that my body gives me that “enough” is “enough”. I told my wife while we were dating of my issue to either scare her away or see if she would stick around. She stuck around and is the most fantastic woman of all time! We have a wonderful child together. I have learned that everyone has “something”… for us it’s McArdle’s, right? We can’t change it, but we can learn to not feel limited all the time. We just need to know the rules and then live within those rules. For example, i know i can’t be an athelete and expect to be pain free, so for my job, i have a desk job as a Marketing Manager and am doing very well. Very little physical activity. At home, I am an avid home-repair-improvement home-owner. However, i just do it an hour or so per day until the task is done. Just learn to space things out and be fine. If the people around you don’t “like” you because you can’t keep up, then they’re not good friends to have.

    By the way, there’s a conference in Denver on 09/11-09/13 at http://www.gotcornstarch.com. It’s late for the registration but i encourage all GSD folks to go if they can. It pertains to all GSD types, not just McArdle’s.

  288. Jim
    August 21st, 2009 at 13:06

    After finding this web page I felt so isolated now I can see that im not alone my story is like everyone else.I am a 48y old Male and was diagnosed at 45. It destroyed my career as a Construction Electrician My hardest thing for me is accepting that i have this Disease Im very independent and always did things by myself but now I find that I have to ask for help doing the hard work and other chores. I find this to be very emberising for me
    but Im slowley learning that I have to accept it.

  289. Terra
    August 21st, 2009 at 00:32

    My fiance was diagnosed with McArdle’s this February after going into rabdho from a seizure. He had another Seizure this past week. He’s been put on anti-seizure medication but we are unsure what is causing them. All of his MRI’s and EEG’s have come back normal. Has anyone heard of seizures being linked to McArdle’s? And is there any way to prevent them? It’s one of the scariest things I’ve ever seen. I really want to see if there is anything we can do to prevent it from happening again, especiall now that we have a baby on the way. Any insight would be greatly appreciated.

  290. Amanda
    August 15th, 2009 at 12:45

    I am 21, from the UK and a month ago I was FINALLY diagnosed with McArdle’s.

    I have been mocked, bullied and pushed to do more than I was capable of my whole life. I have suffered daily pain in simple household tasks that to a certain extent has improved with age. I can’t walk to the shops without shopping. I can only climb so many stairs. I was called lazy, and unfit. Part of me worried that they were right, and so I didn’t always say.

    Even though I am better than I was and exercise more, I find this to be a mixed blessing. People often don’t realise that I have any problems and treat me differently once I explain. Also, when I do injure myself now it is often a lot more severely and appears inexplicable to people who don’t know.

    I’m working on improving my situation, and I now have a trainer at the gym. We’re working now to give me strength in my muscles that will support me as I age. I’m scared but I try t stay positive.

  291. Austin
    August 12th, 2009 at 17:53

    I have a friend who was diagnosed with McArdle’s Disease at the age of about 14. He was working out one night at the gym, went home, fell a sleep and the next day he was in excruciating pain and couldn’t move. He spent the next couple of years in and out of the hospital (mostly in) and was treated with a myraid of different drugs including morphine and ketamine which would work in easing his pain but left him unable to think clearly and was prone to hallucination. He couldn’t attend school he spent months in New York under the care of a specialist who put him on a program that had positive effects but were only temporary. After years of treatment after treatment finally it was suggested to his parents to try putting him on medicinal marijuana. They were extremely reluctant, being totally against it, but eventually out of desperation they gave it a shot. After starting his medicinal marijuana treatment, he went from literally living in the hospital for more than two years straight, to being able to live at home and graduate from highschool with little more than a handful of attacks that caused him to be hospitalized, in which he was not there for more than a day. I know that this treatment is not for everyone and that it goes against the ideals of some, but it’s something to look into.

  292. Yasmin Wahid
    August 6th, 2009 at 09:25

    I forgot to add that I was only diagnosed 15 months ago

  293. Yasmin Wahid
    August 6th, 2009 at 01:53

    Hi my name is Yasmin. I am 52, from South Africa of Indian descent now living in California. Ihad a problem since childhood but was always considered lazy. I could not do PE in school tired very easily muscles would cramp fingers would lock arms and thighs would swell up lots of muscle spasms muscles would lock and always experienced 2nd wind phenomenon. then I visited the rheumatologist and after 18 months of testing he decided to do a biopsy. results were that I have McArdells disease. I also have osteoarthritis of the hip and low back.Am also suffering from depression for the last seven years, worse now after I suddenly lost my beloved husband of 31 years in December 2007. This site has been very helpful to me, knowing i am not alone. I would also like to know if anybody applied and qualified for disability due to this condition. I am unable to work and am totally dependent on my 2 young sons one of whom is married. Thank you. Somebody please reply.

  294. Kellie
    August 4th, 2009 at 08:11

    Just wanting to know does anyone suffering from Mcardles disease have back posture/hunch back??

    Also if your partner has Mcardles (male) and you (female) dont is it inherited???

  295. Mark
    August 3rd, 2009 at 23:06

    @mike
    Mike (and all others); I can relate to all of your experiences. I am now 57 years old, but was diagnosed in 1973 here in Colorado.

    Thanks for the earlier post mentioning insurance; I can never leave a job nor allow insurance to lapse as even a minor episode of cramping and excess protein in the bloodstream causing kidney issues would cause bankruptcy within a few months due to our ridiculous “health care” system in the US>

    My experience has been the same as yours in that there seems to not really be any progressive loss of muscle strength.

    I was able to build our house (not be the contractor, but actually, physically build it.

    We also go on long bike tours (50 miles or so per day), but all work and exercise must be at a low intensity to avoid damage. I’ve added muscle mass a strength through regularly doing fairly heavy work but not pushing myself past the very beginning of muscle cramping.

    I’d like to encourage all of the younger folks that this is not a life threatening issue, nor will your life be anything other than what is considered normal if you are careful to not exert skeletal muscles past the point of doing damage.

    Tongue in cheek, I could advise anyone with overly macho hiking or biking companions to start hanging out with sedentary overweight folks. That way, you can help them get moving and not always be the slowest! For all of you in healthier parts of the world, we have quite an abundance of those folks here in the U.S.

    Genetically, McArdles is due to an autosomal recessive trait, and is therefore very rare. In my family, the occurrence is classic; I and one brother have McArdles Disease, the other two do not.

    Sorry to ramble! Hope this helps someone.

  296. Ruben
    July 21st, 2009 at 01:26

    I am a 58 year old male. I was diagnosed with McArdles at 45 years old. I was experiencing fatigue, leg and body cramps and could not keep up with the exercise. I also have high cholesterol and was given lipitor (statin drug), and the statins make your situation worse. Do not take statins. I take mobic which helps with all of the muscular pains. Do not use heavy weights because you will get sick. Walking is good for you and I walk 3 miles every day. Persons with McArdles are also susceptible to getting uric acid stones (gout) and I now take Uricit K to take care of that problem. Take a multiple vitamin with minerals every day. Also stress aggravates your situation.

    I now have a mild case of diabetes that is under control. Eat a lot fruits and vegetables. Stay away from white bread and look for multigrain breads. You can eat beans, chicken, and fish. Keeping a balance with this disease is difficult but you can do it. Other than that, good luck to all of you.

  297. Beth
    July 20th, 2009 at 13:24

    I’m 55 yrs old and have suffered with muscle cramping in my shoulders, hips and back since I was a teenager. Heavy lifting or strenuous activity bring them on. I have fainted from the pain numerous times. I notice mild muscle trembling with moderate exercise. I plan to talk with my physician about this, but am wondering if anyone else has symptoms such as these and have been diagnosed with McArdles.

  298. Nancy
    July 15th, 2009 at 14:51

    @mike

    I come from a family with eight children, four boys and four girls. We are all in our fifties. ALL FOUR of my brothers have been confirmed to have McArdle’s, although the severity varies. Two of my sisters are at least carriers. I absolutely do not believe that this is as rare as they say… I think instead it is widely misdiagnosed.

  299. mike
    July 8th, 2009 at 08:18

    @Stephen
    I’m no geneticist but the if it’s a 1 in 100,000 people condition and both parents need to have the gene then it must be a pretty remote chance that your kids will have it. I have 2 grown up daughters and they have no symptoms. Possibly not a good idea, if you’re an unattached McArdles sufferer of marriageable age, to base your social life around the people you meet on this site though!
    As far as the effects of age are concerned, at 62 I’ve noticed none really. If you can do it, exercise is very important and seems to produce results particularly quickly in terms of being able to build up the distance you can walk or the number of reps of anaerobic exercises. Failure to maintain regular exercise after you’ve reached a certain level seems to produce an equivalent decline however. Obviously it’s important to avoid the ‘burn’ though so that you don’t damage muscle tissue.

  300. Ross
    July 8th, 2009 at 07:48

    Stephen,
    You will obviously be a carrier for the gene but your partner/wife must be a carrier also before your child can have it. Then the child only has a 50/50 chance of developing McArdles. I have a 14 month old and have no worries about him growing up although he will be a carrier himself. I have the disease but my brother who is 6 years older shows no signs. Hope this helps.

  301. Site Admin
    July 6th, 2009 at 16:23

    Genetic counseling can screen for McArdle’s disease, for those concerned that their children may have it.

    http://genetics.emory.edu/egl/test.php?test_id=216

  302. Ron
    July 6th, 2009 at 16:17

    @Stephen
    Stephen,

    I have a 10 month old girl who seems to be healthy and not affected by my disease. I am also 29 and share the same stories as you regarding you past experiences. I know I have asked many doctors if my little girl would have McArdles and for the most part they all feel she will not be affected by it. However, I like you still want more information to see what I can do to make sure. I think it’s going to be a good thing knowing how the disease works and living with it for 29 years to help identify it if she does have it. I can remember from 5th grade on feeling like a weaker individual than my friends and classmates. It can be tough on a young child not knowing it is disease related, and not because of performance. For anyone reading this in their later 40′s or 50′s who can tell me the physical strain they feel now compared to how their friends preform at their age I should would appreciate it. I ask this because I feel a little more physically down each year than I have noticed in years past. I am thinking more walking and exercise may help, but I worry about this because I want to still live as normal of a life as I can to see my girl and future children grow up.

  303. Alba
    June 28th, 2009 at 20:22

    I am going to translate for Marcelo De Luca, albeit not beautifully…

    He said:

    “hi, I am Marcelo from Buenos Aires, Argentina. I’m sorry not to write English, but mine is limited. It was great to find this page and rekindled the light of hope. I am 41 years old and have 3 children. I have McArdle’s, diagnosed at 15. I try to live a normal life and do a little sports like soccer and volleyball. Until a year ago I did not know anyone with this illness, and since I met many Spaniards and a Venezuelan. Now I find you. The truth is I would have liked none of us to be on this page, but destiny made it so. It must be for something. So, from Argentina I report to connect us, get to know each other, share experiences, and who knows the miracle of a cure for our problem.

    In June there is a conference in Madrid [Spain.] It is important that everyone shares the conclusions of the attendants, that they are realised for the world.

    A big hug.
    I promise to translate this to English and post.”

    Anyway, from me, Alba now…
    I found this page by googling some of my symptoms and test results. In July I am going to a geneticist and the Mayo clinic. My biggest hope is to finally be given an answer there, after years of seeing many doctors and waiting (and many incorrect diagnosises.) There are many similarities for me with McArdles, but obviously I do not yet know a thing. For months my doctors have told me to expect to have a muscle biopsy. So, perhaps I’ll return to this page. (Besides having POTS they all think I have a neuromuscular problem.)

  304. Stephen
    June 25th, 2009 at 10:11

    I am 29 and was diagnosed with McArdle’s disease in 1998 when I was 18. When I was as young as 8 I remember having trouble running and doing excercises in school. When I was 13 I had to do a physical fitness test which involved doing as many sit ups as possible in 60 seconds. I did 12 but everyone else was doing 50 or 60. I walked around all day unable to stand up straight because of the muscles in my abdomen hurting so bad, but because of years of dr’s and friends and family telling me there was nothing wrong with me or I would grow out of it I thought that I really was just being lazy. I have been in and out of the hospital many times since then for rhabdomyolysis.I’m just glad to finally know that there was something wrong with me all those years and that there are other people with the same disease. Also I was wondering if anyone knew the chances of someone with McArdle’s disease having a child that does not get the disease. Any information would be greatly appreciated.

  305. mike
    June 24th, 2009 at 15:19

    62 years old. Had all the symptoms from an early age. Taken to doctors at various points as a child and told I was lazy. Things came to a head at age 13 when pe teacher used to force me to do extra exercise and slap me around when I failed (those were the days!). Doctor diagnosed ‘missed polio’, an apparently non-existent condition, and recommended physiotherapy. Not correctly diagnosed until I was 34 when my GP, who had trained under McArdle himself, recognised what it was.
    I found this site interesting for the anecdotal stuff about the way we attempt to conceal our ‘weakness’: stopping and pretending to tie shoelaces when walking up hills. Intently reading a book in the same circumstances. I used to stop and ‘admire/inspect’ parked cars and motorbikes for such long periods that I’m surprised I was never arrested.
    Nobody has so far mentioned sex but I can’t be the only man with this condition who envied women their ability to go easy with their lower abdominal muscles if they needed to. How many answers to ‘Why have you stopped?’ can a man be expected to come up with?
    As far as exercise is concerned, I go to the gym and do a reasonable amount of anaerobic stuff. You have to wait for the second wind and you have to build up your reps slowly but the rewards seem to me to be worth it. I’ve also found that it’s possible to ‘beat’ the cramps by stretching the muscle before the cramp sets in, so if you’ve done some sit-ups and you’re expecting your lower abs to ‘pull’ you down, lie on a bed or something and hang your upper body over the side. Obviously, this only works before the cramp starts so you have to be quick. Try the same thing for tightening fingers, push them right back. This can often stop the cramp from setting in.
    Other anecdotal stuff: aren’t old-fashioned tin-openers a killer? Does anyone ever feel confident enough to swim very much out of their depth, even though you know you could probably float if needs be? And the mail about the way that tenseness or fear seems to bring things on much quicker is absolutely right, as I discovered a couple of times when I had to run away from trouble.
    I’m surprised at how many of you seem to have experienced ‘late onset’ (as opposed to just late diagnosis) and I’m appalled at the way some (presumably American) mailers have had to worry about medical insurance when considering diagnosis.
    On a final and more upbeat note, I was worried when I was younger, about the condition worsening with age. No signs of this so far for me and I hope not for anyone else out there.

  306. Carrie
    June 22nd, 2009 at 04:46

    Hi all! My names Carrie Weaver and I am a 26 year female from New Zealand. I was diagosed with McArdles about 1 year ago now, I have a 5 year old son (Kyle) also. About a week after having Kyle I became very sick very quickly, losing weight fast, in extreme pain and uncontrolable vomiting..I had elevated CK and had protein in my urine. I was referred to a renal specialist who ordered a biopsy and I was diagnosed with Lupus! I have always been an active person.. doing sport all my life and being a personal trainer and pilates instructer for years, I always new something wasnt quite right.. no matter how much i trained i didnt seem to be able to get much stronger or fitter! I started noticing lil things were becoming a mission eg. Blow drying my hair, just going up more than two flights of stairs, yet i was training all the time.. It juts didnt make sense. Even the slightest hill terrrified me! I kept goin back to specialist after specialis, then finally was diagnosed.. It felt great in one way.. knowing I wasnt lazy, and was depressing in another way knowing my career and lifestyle needed to change. Specialist styill claim I have lupus also.. however Im not totaly convinced! Has any1 else been mis diagnosed for lupus? I also suffer at least once a month from crippling head and neck pain (like a migraine) and intense vomiting! Related? anyone know? I have become very out of shape since the diagnose and was wondering if any1 has any tips for the me? Diet? Excersize regime? I just wana get one and live life.. I am currently training to become a nurse, (since i had2 change my career direction) Also anyone from NZ with McArdles.. would love to talk!
    Caz

  307. Ruth
    June 21st, 2009 at 00:56

    @Vikki
    Hi Vikki

    I too have all symtoms except the dark urine. I had a muscle biopsy done in July of 2006 and it determined that I do have McArdle’s. As well, I have the problem of my fingers curling toward my palms when I over exert myself. It takes a couple of hours at least for them to settle down. I recently sprained and fractured my ankle, May15/09, and the doctors said I would be walking just fine within 1 week. It took 2 weeks before I could really put any pressure on my foot and now, after 5 weeks, I am still experiencing a lot of trouble. I am told that because of the McArdle’s, it will take a lot longer for me to heal. SIGH!!!!!!!!! I get my CK level tested every month. It was 497 on May4th and 774 on June 4th. I do hope you get an answer to your sons troubles soon.
    Best wishes to you.

  308. Carleen
    June 19th, 2009 at 03:43

    Linda,
    I noticed you said you check your CPK levels regularly. Is that through the lab or is there some way to check the levels at home? If we had some way to check for high CPK levels without going to the doctor it would lessen our stress levels. We worry alot about my son’s CPK levels going up and not catching it in time. We have been told exercise is good, but at this point anything he does makes us all nervous. He’s worried too and complains alot about pain in his arms and legs, even hands. I just don’t know what to tell him…I resort to my usual answer of “take ibuprofen”, he complains that it doesn’t do any good. At the end of the month we have a consultation with a surgeon that will be doing a muscle biopsy, hopefully we will have some answers then. If it’s not McArdle’s we’ll be back at square one. I don’t want anything to be wrong with him but if it is McArdle’s then at least we would have an answer as to why he feels so bad all the time. It is very frustrating to see your child in pain and not be able to do anything about it. It is also a mind-boggling feeling to hope that it’s McArdle’s and hope it’s not at the same time. My best wishes to all of you.

  309. scott Effertz
    June 16th, 2009 at 18:13

    @Stephanie
    Hi all, I have been dealing since i was 9 now im 46. in the last 3 years i have had constant pain in my lower back from episods i had when i was younger. the last 3 days my left foot has been cramped and very painful. Thought back to what i might have done to get it like that. $ days ago i put my foot on the tube to cut my toe nails, i must of had it at an angle it didn’t like or pushed to hard. So im learning the more it progresses the less you need to do to to have pain. not good :(

  310. Miguel
    June 16th, 2009 at 08:15

    Hi everyone,

    I have been going to the gym a couple of months now and I can tell you that I already feel much better. I am doing a very careful routine, with a half an hour cardio. Then I do two series of 12 reps with very low weight and then I do two more series of 12 with about the 80% of yhe maximun weight I could tolerate for the same number of repetitions. I must say that I am very happy with the results so far. My energy level has increased and my exercise tolerance has also increased greatly. Now I am thinking in lossing some weight as I am slightly overweight. I am 182 pounds and 5 feet 8. My legs are much more muscular than anyother part of my body and I am not as fat as I may seem in figures, but definitely could lose some.
    Any suggestion for dieting?

  311. Mike Ryerson
    June 12th, 2009 at 03:33

    What a great website and how nice to be able to share our experiences.
    I’ll be 70 years old next year and I’ve gone through most of the things I’m reading here including kidney failure. I was diagnosed in 1960 with what they called myoglobinuria back then. In 1986 a byopsy proved McArdles.
    Three months ago I was diagnosed with diabetes and I’m currently taking insulin.
    Are any of you diabetics too? Any added problems? The doctors can’t tell me what I can expect because they have never seen McArdles. -Mike Ryerson

  312. Vikki
    June 11th, 2009 at 00:07

    Hi Everyone! My name is Vikki and I’m 31yrs old. I’m a nurse and a Floridian and I was diagnosed with Mcardles disease when I was 19yrs old via a muscle biopsy! All my life I remember being the slow one, although I was always fit and active. I remember playing basketball in middle and high school and having trouble running full court. In hind sight, I also remember my fingers curling in towards my palms and my forearms swelling after lifting something heavy. I simply thought I needed to workout harder. When I was 18, I began noticing a decrease in strengh and endurance, which was significantly less then my other teenage counterparts. I noticed an increase in fatigue and brought it up to my doctor. He thought it was depression and gave me an antidepressant but luckily he did do some lab work. A few days later I got the call that started it all…an elavated CPK.
    I have had my diagnosis for appx. 12 years now. I am a mother of three non-affected children. Although each of my children will be carriers of the gene, because Mcardles is Autosomal recessive, each one of them is strong and vibrant and full of ENERGY! My pregancies were normal and without complications.
    As I said, I am a nurse and have been successful despite my limitations. I have an outstanding team and above all I have learned what most of my limitations are, although I am afraid to admit that I hovered over a toilet seat when using the bathroom once at work and my thigh muscles began to swell and contracted for a good 48-72 hrs. ( I never saw that one coming and it was very hard to explain.)
    I have never been hospitalized, although once in 2007 I was close. I went swimming with my children in a pool. I swam the width of the pool underwater and half way I had to surface because every muscle just stopped responding. Thank God it was farely shallow because I thought I was going to die. That night I woke and went to the bathroom and it looked like coffee. Luckily I called a friend that is a surgeon and he told me to begin drinking water quickly until I noticed my urine returning to normal. It took about 2 hours but it worked. The next day I began my three day 12 hour work week and on the fourth day I went to the doctor at which my CPK was 37,000 and I had elevated liver enzymes. I was not hospitalized thankfully and did not require dialysis.
    My plan is to work and help people for as long as I can and be thankful for each day as it comes. God Bless All!

  313. Consuela
    June 10th, 2009 at 21:52

    @sheila
    Hi Sheila,

    Yes the rheumatologist and neurologist do not believe it is either fibromyaliga or MS (but not 100% certain that it is not MS). I’m seeing an allergist on Friday to make sure I’m not eating something that could be affecting me. I did not know this, but food allergies can cause muscle problems too. The only food I know that I’m allergic to (garlic) I avoid. I’ve asked about a muscle biopsy, but the doctors keep doing other testing (MRIs, EMGs..multiple blood tests). I guess I just have to wait and see. If everything keeps coming back normal, then I’m going to insist on the biopsy. It’s frustrating, but I’m not going to give up. Hope you are well. -Consuela

  314. Ross
    June 8th, 2009 at 07:02

    Those of you who post who have not been diagnosed please get the test because there are many other muscle disorders out there some are even more rare than McArdles like CPT-2 in which the body can not breakdown fat or burn fat from the body and depends on carbs only. In this case diets will be handled completly different. In the case of McArdles disease, Wake Forest Baptist Hospital gave me a list of medicines not recomended for me including Statons which is found in most cholesterol medicine, High levels of caffeine is not suggested also some anesthesia for sugeries can also be a problem. Do stretches and warm ups before exercise, do not weight lift, and pace yourself no matter what you do. Stop and rest before it is too late. I have had kidney failure twice due to too high CK levels before I was diagnosed. Hemodialisys is not fun but through a wonderful hospital team and prayer I recovered.

    To Mike the firefighter, God bless you man for you service but if the disease gets to be too much for you, you may need to think of another profession. I have been in situations to where I couldn’t even walk and the thought of doning that heavy turn out gear and going into extreme heat from a fire is scary. I used to volunteer firefight but it was too much. To all God Bless!

  315. grace
    June 7th, 2009 at 20:33

    I am 15 and I was diagnosed last November. i have two older brothers so ive always followed in their athletic shoes. Ive played soccer for 12 years and basketball and softball for about 8. I always thought that i just had poor endurence because i would run down the basketball court just twice and already be fatiged. My dad and brothers would say i was just lazy and week, but i always knew something was wrong. a day after soccer practice we finished with some strenous abdominal workout and afterwords i could not move. we went to the hospital and i had an elevated CPK of 26,000. Three years later i finally got a biopsy and was diagnosed with mcardles disease. Now im a freshman and my athletic career has come to a dead hault. doctors say not to do any anarobic excersize but i should be able to do areobic things lik run or jog, but i can never get past the cramping in the firt minute of running to be able to keep going. i just keep praying for a cure someday, and hope that maybe i’ll be able to play sports up to my fullest potential.

  316. Linda
    June 7th, 2009 at 17:55

    Likewise, I’ve been diagnosed with Mcardle at age 30 after years of leading a mysterious life (getting tired very easily, difficulty swimming and taking the staircase). I recently quit my teaching position as apparently standing for long consecutive hours have kept my CK level quite high. I wonder if anyone experienced this. It is interesting to know though that I ‘ve been keeping a diary of my lifestyle, diet and CK level (which I take occasionaly). I noticed that my last four trips to Italy this year witnessed an improvemnet in my CK level, perhaps due to daily intake of pasta. Since then, I’ve been increasing my pasta intake at home and i feel less tired than taking different food. Anyone has discovered any good diet? Or improved after a particular diet?

  317. Laura
    June 3rd, 2009 at 19:19

    I am a 55 year old female and was diagnosed with McCardles about 10 years ago. I have been hospitalized twice with high CPK-75,000. No kidney damage, thank goodness. I had my first fatigue memory when I was 5. In my family,I followed a very athletic brother and was always made fun of or called lazy. I learned to skip “gym” in 5th grade. When my neurologist diagnosed me, I almost kissed him! I wasn’t lazy and I had a name for my inability to keep up with friends and family.
    It is rare and I would love to talk to others that have the disease. I went to South America after my last hospitalization and took life savers with me. I did very easy hikes but made sure I had a bunch in my pocket. For me, they helped. Thanks for your comments everyone.

  318. sheila
    May 27th, 2009 at 15:39

    Consuela,

    Have they ruled out fibromyaliga (wrong spelling) and MS? It sounds like you may want to ask your doctor to do a muscle biopsy.

  319. Consuela
    May 22nd, 2009 at 16:27

    @Carleen
    Carleen,

    As a young athlete in elementary, middle school and high school I suffered from bouts of fatigue like your daughters. I was told to suck it up and keep going, so for many years I did. I suffered in silence until my body would not let me push it any longer. It’s possible your daughter has the same issue as your son, but the only way to know for sure is to get her checked out. Good luck and God Bless.

  320. Consuela
    May 22nd, 2009 at 16:20

    Hi everyone. I’m a 32 year old female and have been experiencing extreme fatigue and exercise intolerance since October of 2008. I have not been diagnosed with McArdle’s Disease, but I’m definitely going to have my doctor check for it now. I found this page by accident. I’ve been trying to figure out what is going on with my body and the doctors have no clue either.

    See I’ve always been a very active, athletic person, but have always needed a lot of time to recover from even a small amount of exercise. In the past five years I trained my body to walk half marathons. I wasn’t fast by any means. Slow and steady never won the race, but I could finish. Then I fell sick in August of 2008. I was told I had a stomach bacterial infection called h.pylori. After a few weeks of antibiotics and a month of relaxation, I was given a clean bill of health…that is when my hell began.

    My legs were constantly frozen (heavy, sore and stiff). No amount of stretching or massage made them better. Matter of fact, massaging the muscles put me to tears. I was constantly fatigued. My legs became weak and there were days where I could barely walk. I made the mistake of walking a half marathon with friends in October of 2008 in San Francisco only to be bed ridden for two days. The pain I felt in my legs had now moved to my arms as well.

    The doctors have done multiple exams, studies and tests to no avail. The gastroenterologist who found the bacterial infection sent me to a rheumatologist where he ruled out any kind of autoimmune disease. My family doctor thought maybe I had myositis since my mother and an uncle suffer from it. I was put on a round of prednisone with no positive results. Still in extreme pain, I was then shuffled off to the neurologist who did MRIs, an EMG and blood test with still no findings.

    It’s been two months since I’ve seen the neurologist and I’m better then when I first saw him. The pain is less intense. The only thing that has changed in the two months is how much exercising I’m trying to do. I can no longer cycle the one mile to work, because within less then a minute my leg muscles are on fire and I’m breathing heavy like I haven’t exercised in months. Walking to work can also be somewhat uncomfortable so I do not do it very often.

    The only real exercise I’m doing is swimming a couple times a week. When I swim I do not have as much soreness as when I cycle or when I try to do traditional exercising (weights etc.), but my muscles are stiff the next day and I’m really, really tired. Plus I get leg and foot cramps if I’m in the pool too long…so I stay in the shallow end of the pool even though I can swim. I don’t want to take any chances.

    I’m so glad I found this website, because up to now I was really losing hope. With every doctor telling you there is nothing wrong, but then they cannot explain why I’m hurting so much and why I cannot exercise any longer. Plus, for those who have known me all their lives..they cannot understand how an athlete can go from marathoning to barely being able to walk. Like Julie (previous post) said, “I don’t LOOK like there is anything wrong with me.” Thanks for listening.

  321. sheila
    May 21st, 2009 at 05:17

    @Julie
    I love this website. I have looked for so long trying to find a site like this one because even with all the “DRs” degrees if you live with McArdles you know more then the doctors do on this.

    Julie, check with the MDA in your area several years ago when I went to the specialist in St. Louis I was told Mcardles is covered under the MDA. I have never had to use it but it may be worth a shot.

  322. Dianne Berryman
    May 20th, 2009 at 09:38

    Hi Karenne,
    Just wanted to drop you a line as I also live in Melbourne and have McArdles Disease. I am 39 years old and only diagnosed last year although like many others had symptoms all my life and lots of people telling me I just needed to try harder. I have found a good neurologist at St Vincents hospital and neurogeneticist who have been able to give me a lot of information. I’d be happy to give you more information if you like. @Karenne Taffinder

  323. Marcelo De Luca
    May 12th, 2009 at 03:12

    Hola soy Marcelo de Buenos Aires, Argentina. Lamento no escribir en Ingles, pero mi lenguaje es limitado. Fue una alegría encontrar esta página y una luz de esperanza que se vuelve a prender.
    Tengo 41 años y 3 hijos. Tengo Mc Ardle diagnosticado a los 15 años. Trato de hacer una vida normal y en la medida que puedo hacer alguna actividad deportiva (Futbol y Voley). Hasta hace 1 año no conocí a nadie con la enfermedad y desde hace un tiempo conocí a muchos españoles y un venezolano. Ahora los encuentro a Uds. La verdad que me hubiese gustado que ninguno de nosotros este en esta página, pero el destino asi lo quiso. Por algo debe ser. Asi que desde Argentina me reporto para conectarnos, conocernos, compartir experiencias y quien sabe el milagro de la cura de nuestro problema.

    En el mes de Junio hay un congreso en Madrid. Es importante que todos compartamos las conclusiones de los congresos que se van realizando por el mundo.

    Un abraso grande.
    Bye, bye.

    Prometo traducirlo al Ingles y volverlo a enviar.

  324. Julie
    May 9th, 2009 at 07:10

    I am 46 years old and was diagnosed 9 years ago via muscle biopsy. I’ve had symptoms for as long as I can remember, but they grew worse in my 30′s. The neurologist in New Orleans had only heard of it, but wanted to do experimental treatments. He said he would write the results up in medical journals and was very exited. I was all for it until he told me the expenses would come out of my pocket. I live in Hoston now, and would like to see Dr. Haller in Dallas, but since my husband died I have no medical insurance and doubt I could afford Haller’s treatment.

    No doctor I have ever been to has seen a case of McArdles. It’s very frustrating. Once the doctor knows I have it, they are overly cautious to treat me with any sort of medicine, whether it’s for a cold, flu, or my high blood pressure. I have had many bouts of rhabdo and excruciating contracture. When my husband was alive and we had insurance, I would go to the emergency room and be subjected to mind killing pain because they wanted to bend my body in all sorts of ways to take x-rays of which ever limb was being affected. Then did not treat me for the pain, and I don’t recall but one doctor ordering a blood test to check the CPK levels. Since then I’ve had to tough it out at home due to the lack of insurance. I have never spoken with anyone who has McArdles before, but the posts here do sound so familiar. My McArdles seems to be quite severe, but again, with no knowlegable physician to help, I really have no idea.

    My symptoms have really gotten up and galloped over the last two years. I was an airbrush artist all my life but now I can not hold the airbrush without my fingers contracting within 15 mins. My feet seize up after trying on shoes, my forearms become rock hard and feel like the muscles are tearing away from the bones if I scrub my toilet or clean a pan. I’ve only had 3 serious incidents where I was in sheer agony over the last 2 years, but do “pull” (for lack of a better description) muscles regularly.

    I can commiserate with others on here when they speak of having to stop and rest while walking. My father used to call me lazy until he witnessed first hand a bout of contracture that sent me to the hospital. But what I find is the hardest to deal with is other people’s reaction. I don’t LOOK like there is anything wrong with me, my friends and extended family don’t seem to get it, people glare at me when I park in the handicap spots. One man went so far as to accuse me, at a loud volume, of stealing my handicap placard. I’m thought of as a lazy bum. It is VERY hurtful and degrading.

    With no insurance and no regular care for the McArdles aspect of my life I am very frustrated and feel adrift with no way to turn.

  325. Carleen
    May 6th, 2009 at 19:29

    Oh my gosh…is the only way I can describe how I feel after reading these posts. My son had an episode of Rhabdomyolysis 4 weeks ago. I had never heard of this condition prior to that. His arms swelled to the point where it was hard to bend them. We thought it was an allergic reaction, as suffers from severe allergies. I had no benedryl in the cupboard so we took him to the E.R. He mentioned to the doctor he had lifted weights at the gym 3 days prior and his arms felt sore. Phillip is 17 yrs. old., and he only lifted 12 lb. weights, three times less than he had lifted a year before in gym class. By chance the doc tested his CPK levels, which were 58,000. He was in the hospital for 4 days on high levels of fluids. The doc is planning a muscle biopsy next to try and pin down a diagnosis. I’ve had him to doctors for 3 years regarding consistently high biliruben levels and fatigue. My worry has been a liver problem. After reading your descriptions of McArdle’s symptoms I’m wondering if it’s not a problem for my three girls as well. Two have been diagnosed with Ankylosing Spondylitis (arthritis), and the youngest has complained of severe pain in her shins after running (so bad that she can hardly walk). One daughter has also complained about extreme exhaustion after running a short distance, dizziness and extreme headaches that last for 3 to 5 minutes. Has anyone else experienced these symptoms?
    Thanks so much!
    Carleen

  326. Carla B
    May 2nd, 2009 at 22:12

    HI I wrote a pretty long post and it didn’t post so I am just going to ask a simple question. Does anyone have lumps in their muscles?

    I have dozens of them in my forearms, abs and now my thighs. I had a mri a few weeks ago and the lumps did not show up but they did find out I have arthritis in my knee and bursitis in my hip.

    I have been diagnosed with many things but I do feel Mccardles is what I have. I have all the symptoms but the dark urine but I do over exert myself too much but have had back problems since I was teen, then found out recently I have no arthritis in my hips, they told me 10 years ago my leg and thigh pain is my hips but my hips look great on a xray.

    Not one Dr knows what the lumps are and they are not painfull, does anyone have any experience with these. Carla

  327. Ruth
    April 28th, 2009 at 19:28

    I have also been told to ingest high doses of suger before any form of exercise, but I do not find it helps me at all. All it does is add weight and it is really hard to get rid of when you cannot do the intense exercise required for weight loss. Low carb diet as well, is not bad but you do have to eventually add them back and again, the lack of intense exercise puts any weight you make have lost back on. It is driving me crazy. I too have had mcardle’s disease all of my life but never knew it until I was 48, when I fell and was rushed to hospital, later finding out my CK was 40,000. Spent 8 days there. I am being watched very closely for any sign of rhabdo. Get CK level checked every month to be sure it doesn’t get out of control.

  328. Mike
    April 22nd, 2009 at 18:55

    Hello, I just turned 36 y/o and think I may have McArdles Disease. I am a career firefighter who is worried to death about not being able to execise or perform simple functions anymore. I have read several posts about what little treatment there is for this disease. I tried the creatine for awhile then tried a workout and could not go more than 30 minutes. This is really depressing. Another bad part is that the Genetics Doctor cannot get a biopsy til August 31st. I have left several messages for him and told them it is getting worse by the day. He hasnt even looked at my blood work yet. I have had leg cramping all my life, but knew something was wrong when it hit me last year after running for 2 miles and my legs felt like they were going to spasm at any moment or grade/level change in the surface. I need to know some type of treatment works for somebody so please, any help is MUCH appreciated! Thanks for listening!

  329. Sam
    April 20th, 2009 at 13:55

    Hello, I’m a 37 year old male and finally been diagnosed. I’ve had dozens of blood tests which started out identifying high Liver Enzymes which then identified high muscle enzymes, I was fortunate to be on BUPA and after my CK levels hit 7000 I was rushed for an MRI test on my thighs and abdomen, I also had electrical nerve conduction tests on my arms/legs and prior to this was waiting on the results of a genetic test. I opted to have the muscle biopsy last as a final test but fortunately the genetic test came back positive.

    My younger brother by 8 years also has the same symptoms, ie stopping to tie shoe laces or answer a pretend call to get a rest when with others. I have developed the muscle cramps, swellings and dark urine over the last 5-10 years which he has a lesser degree of at the moment.

    I am waiting to see a specialist who will hopefully increase our knowledge and also waiting to see a family gene specialist who will help identify the other members/carriers in my family.

    I’m taking Vit B6 + B12 aswell as Sucrose tablets prior to expected exercise until I know better.

  330. Ross
    April 13th, 2009 at 03:52

    Hello Everyone. My first post here. I have had McArdles all my life but only diagnosed in’05 after my second round with rhabdo which required hemo dialysis to reduce the toxins that my kidneys were not filtering. In my opinion loading up on sugars does not help. I have tried it but I have found that supplementing with l-carnatine and creatine does have its benefits and I also agree regular exercise such as walking and paced aerobics is a must. I also tried a low carb diet which seemed to keep my body in the “switch mode” which means burning fat for energy instead of carbs but I do not recomend the diet because at some point you have to add the carbs back. Regular exercise and a warm up before any physical activity seems to be the best for me. By the way this site is very helpful as we all are still learning about McArdles.

  331. Liz
    April 11th, 2009 at 20:44

    My 17-year-old daughter has many of the symptoms of McArdle’s disease (muscle pain and cramping, extreme fatigue, muscle swelling.) Her doctor suggests this diagnosis, but of course wants to confirm it with a biopsy. We are concerned that getting a confirmed diagnosis of this disease on her health record, since it may cause problems getting affordable insurance in the future–and since the treatment for this disease (care in exercising, taking B vitamins) can be undertaken without a confirmed diagnosis, we are considering this option. Any thoughts about whether we would be missing something crucial if we taket this approach?

  332. Ruth McKellar
    April 6th, 2009 at 22:32

    Hi Christopher. I am a 51 year old female. Was diagnosed 3 years ago. I find that I am not able to walk very far because of the unlevel roads and sidewalks. My neurologist told me to try to limit myself to very flat roads and to use a treadmill on the least incline setting possible. (NO INCLINE)I find the treadmill the best form of exercise for me. Also taking my B6 and B12 supplements every morning helps. I was doing not too bad until my treadmill decided it didn’t want to work correctly any more. So for now, I am grounded. It has started snowing here again so I do not go out walking in that. My legs, however, are feeling very heavy and I am in constant pain. My legs also go into spasms quite regularly. I find myself going into stretch mode with my legs a lot now, especially during the night and they feel like they stay in the stretched position all the time. They feel as if they weigh 50lbs each. My shins feel like I have shin splints but it is just the McArdle’s. So frustrating. Does anyone else have that problem? I also have osteoarthritis in my knees which makes my walking that much more difficult. They will not operate yet because “I am not old enough”. I am currently trying to lose weight. Need to lose approximately 95 pounds. I know it can only help. So far I have lost 35 pounds. 60 more to go. It is hard but I am doing it slowly. I do not want to end up in leg braces or a wheel chair so I am trying to get the weight off. But I do know that it can and does happen regardless of weight.

    Do let me know if anyone else on this site is having similar problems with their legs.

    love y’all
    Ruth

  333. John
    April 3rd, 2009 at 04:33

    I am 36 years old. I have played competitive soccer, I play racquetball 2-3 times per week at a fairly competitive level. Sometimes for 3 hours straight. I’ve got 4 kids and have been married for 17 years. Do the math and you get an extra 20 pounds or so. :-) So, I decided to hook up with a personal trainer 2 weeks ago. I went in at 6:30 on a Monday morning and proceeded to do push ups, pull ups and various other drills for about 1 hour. I knew I was going to feel sore and maybe a little sick because I had not pushed myself in a long time with that kind of training. By Tuesday night, I could not move my arms and was in incredible pain. I went to the hospital Wed morning thinking I may be able to get some muscle relaxant or something because I wasn’t even able to sleep. The docs of course had no idea what was up. After I told him my urine was brown, he had me sit back down and the proceeded to draw blood, etc. My cpk levels came back at 120,000 and they all freaked out. Went straight to ICU and the rest is history. I was lucky, my kidneys pulled through just fine. I guess my issue now is that I have been really active and now suddenly, I’m told I can’t lift weights, and should limit what I’m doing, but why did I not have any issue until that one day 36 years later? I feel like I need to jump back into my regular routines and activities, but I am a little hesitant because my arms hurt like crazy and I really like to avoid hospitals. I’ll stop. Sorry, this is a great place for me to vent a little.

  334. Heather Brannon
    April 1st, 2009 at 03:14

    @Shannon
    I was diagnosed with McArdles last year. I am now 28 years old. I have struggled with this disease since I can remember. Like your daughter I as well have bouts of nausia and vomitting. Generally this will happen in situations where I over exert myself physically. However if I tend to get emotionally overwhelmed it also takes a toll on me. When your body is emotionally stressed it can cause your muscles to tense. Therefore at times it may cause a chemical release in your body due to the disease. When my life is steady and I am focused on simply getting through daily challenges and monitoring my health the episodes of nausea are fewer. It is a hard thing to maintain especially since there seem to be so many symptoms that have been undocumented. I as well when my cpk levels are elevated have a hard time with concentrating on more than one thing if the volume is to loud. Bright lighting or lots of movement around me is disturbing. One explaination I have recieved on all of the above is that the body being over run with one chemical can have the tendency to over produce others to try and balance itself. The end result can cause to many reactions at one time and lead to a certain amount of disorientation. I live in Alaska and there are no specialists here. Most doctors are afraid to deal with me even when I have the flu. My body is extremely sensitive to different antibiotics and medications. Prior to my diagnosis there were several medications I recieved that actually elevated my cpk to the point that it actually caused me to have full body tremors. I as well lost the movement in one side of my face, my speech was impaired and I was unable to walk normally for over a week. Most of what I have learned has been from just my experience in living with this disease and recently research I have done on my own to try and make my life more liveable. With what I have learned I seen improvement in some areas and not in others. There are things that I avoid eating because it seems they make me ill somehow. Anything with MSG in it tends to make my body react strangely. Any type of drink with artificial caffiene will make me sick to my stomach and fatigued. Mt.Dew, Coke, Red Bull etc. However non caffinated sodas don’t bother me and I can drink brewed coffees. Red meat is hard for my system to digest and generally will make my stomack hurt. The last on my list would be fried food, most home cooked fried food using wesson or olive oil does not effect me, but when I go out the fried food from certain restaraunts will make me ill instanly. I can’t eat anything from KFC at all. I in the last year have started cooking all of my meals mainly at home and avoiding the above listed foods. I have reduced the size of all my meals and made sure that they were balanced and that they had a healthy amount of protien in them. This may help with your daughter. There isn’t always rhyme or reason to this disease and it seems that the research is few and far between. I can tell you that with my change in diet and regular excersize be it molded to my capabilities has helped with the way my energy maintains. There are still days that I am tired and it took a long time to find my limit with working out at all. It’s a scary thing to go through because when you know that what you are doing could hurt you when you excersise sometimes it’s hard to be strong enough to try. That alone is emotionally stresful. The other side of McArdles is the emotional effect. When there are a string of days that my cpk may be elevated I am much more emotional and I have to really focus to monitor my personality. In fact my emotional state warns me that my chemicals are off before my muscles do. I’ll catch myself getting upset about something small or my feelings will get hurt by something that I mistook because I simply am getting fatigued. After my diagnosis there were a lot of things about my life that were suddenly explainable. Unfortunately a lot of those things were not so wonderful, but going back through those things it has helped me to format some type of regimen for myself. If I am lucky some day I may get the chance to see a specialist such as Dr.Slonim, whom I have read wonderful reviews on. I don’t doubt that his input is extensive and helpful. However encourage your daughter to think back to all of her episodes and see if there isn’t something else you can connect to them. I’m not a doctor and I’m in no way a professional inthis matter, but I have found way to think outside the box as the medical profession is no good to me here. There may be thing though that affect her that seem small but can make a huge difference with a little change and it could be as simple as her being more comfortable with herself and this disease or just not eating a certain thing.
    Hope this helps and feel free to ask anything you would like.

  335. RuthieMcK
    March 25th, 2009 at 13:56

    @tom
    Hi Tom. I have McArdle’s Disease too. I am 51 years old and was diagnosed in 2006. I have had it all my life and did not know it. I was always called “lazy” as a child. I found out, in 2006, that I was not lazy. I had a muscle disease. I wish I had known when I was a child. It has answered a lot of questions for me. My neurologist and geneticist told me to take vitamins B6 and B12. I find that it makes a difference in my energy level. I hope you are able to try the B6 and B12.
    Do let me know if it helps at all.

    Ruth

  336. giuliano dal zilio
    March 22nd, 2009 at 13:59

    @Clayton Blake

    @giuliano dal zilio

    @giuliano dal zilio

    giuliano dal zilio :@Clayton Blake my name is Giuliano, I live near Venice in Italy. I’m 53 years old.I have had mcardle disease since I was a child. I would like to know if there are any new treatments for this disease as I really have severe pain especially during this period. thanks

    @Clayton Blake

  337. Ruth
    March 17th, 2009 at 14:15

    Hi Tom. My name is Ruth and I am 51 years old. I was diagnosed with McArdle’s Disease in 2006, when I was 48, after I fell in the night and was hospitalized for 8 days. My CK level was 40,000 and my kidneys were ok, thank god. I have seen my neurologist a number of times and she suggested that I do a very low/zero carb diet. The geneticist that I saw, put me on creatine too but I too stopped as I felt it was doing no good. The creatine made me perspire really bad. However, what she did do is put me on vitamins B12 and B6. They have helped a lot with my energy levels. Maybe this will help you too. The strength is B12 (100 MCGM)1 a day. B6 (50MG) 1 a day. It is Jamieson Brand as well. She said it is the best brand to use. I hope this helps.

  338. Jonah
    March 17th, 2009 at 08:17

    Hey all. I would like to enquire – what organelles are involved in McArdle’s disease? Lysosome and ribosomes?

  339. Karenne Taffinder
    March 13th, 2009 at 06:02

    Hi Debbie, Thanks for that I think I need to do a lot more reading.

  340. Debbie
    March 12th, 2009 at 19:34

    Hi Karenne,
    That’s called the “second wind phenomenon”. If you stop and rest at the first sign of stiffness or pain, you can usually continue on without any trouble. Every spring when I start walking at the track, I have to stop the first four or five times that I go, then after that I have found that I can go and walk without ever having to stop. I guess I just build up a little tolerance. But I’ve done activities where I didnt’ stop and the pain was unbearable.

  341. Karenne Taffinder
    March 11th, 2009 at 04:17

    Hello everyone! I’m a 53yr old who was diagnosed about 10 yrs ago with 2 gene McArdles syndrome. I’m from Melbourne in Australia. Unlike my brother I haven’t been hospitalised. I’m wondering if anyone else may have found that when they walk and the knees start to ache if you stop and rest until it eases up and then continue walking the legs are a lot better and depending on my fitness level at the time, I can even continue walking with no more aches. I know that if I don’t stop and rest before my legs get too bad, then they will lock up. The muscles in my thigh and calves swell and become so tight that I can’t bend my legs and have had to fall back onto a chair. (Major pain) I’ve had to massage the muscle and when it eases a little physically lift my knee with my hand allowing the heel on the floor to slide back a little and then the muscle in the thigh is so tight again I have to massage it again and wait for it to ease up again before I can slowly move it a bit more. I keep doing this until I can bend my knee to a right angle and sit properly. For the following 2-3 days I’m stiff and sore and i keep drinking a lot of water.

  342. Nick
    March 5th, 2009 at 10:35

    Hello All,

    I’ve known about my McArdle’s since the age of 20 previously thinking I was just unfit, up until that point I had just assumed everyone felt the cramping in their muscles during/after exercise. A bout of myoglobinuria and muscle cramps following a intense period of exercise spurred me to investigate further and I came up with the McArdle’s diagnosis. I had the diagnosis confirmed by muscle biopsy two years ago (when I was 24) following an admission into hospital with kidney failure and a CK level in excess of 250,000.

    Since then I’ve been keen to experiment with new lifestyles and diets in a bid to minimise the impact the condition has on my life. Following a range of unsuccessful diets (most notably the high carb diet) I tried a very low/zero carbohydrate diet and have found this to be very successful for me. When combined with a gentle warm up until the ‘second wind’ phase kicks in, it allows me to enjoy sports including snowboarding, cycling, golf, swimming etc (albeit at a very gentle level). I have read from some previous posters that simple carbs can be introduced without being too detrimental and I plan to try this after I get back from a snowboarding holiday….

  343. Val
    February 27th, 2009 at 17:08

    Hello All,
    I’m just now under going some tests for I too, have been feeling all the symptoms everyone is feeling, except, after a long, sometimes short walk I get a shortness of breath and my calf’s feel like they are 200 lbs each and burn like their on fire. I also noticed after a long hot shower, I can put on cloths and reach down and tie my shoes a lot easier. (that only lasts for about 5 to 10 mins though). I plan to use a hot tub, and then take a long walk to see if I can walk a short distance without leg pain after. Is anyone experiencing this as well? I can’t even hold a phone on my ear with my shoulder anymore cause of the pain. This is my first post here and I hope I am not out of line in asking these questions.

  344. giuliano dal zilio
    February 24th, 2009 at 14:39

    @Clayton Blake
    my name is Giuliano, I live near Venice in Italy. I’m 53 years old.
    I have had mcardle disease since I was a child. I would like to know if there are any new treatments for this disease as I really have severe pain especially during this period. thanks

  345. tom
    February 22nd, 2009 at 18:31

    hello
    In 1994 a muscle biopsy had determind that I have mcardle’s. today Im 44 years old. feeling fatigue an feel numbness to my left arm an weekness to my legs. I dont even have energy. Iv’e seen doctor benstead in halifax about 6 years ago. he recommend for me to take creatine which may help to boost some energy for me. I been taken this creatine powder for approx 3 years an just got sick of it. I don’t know if there’s any other suppliments that someone can take to help boost your energy an feel abit stronger. I guess with a neuro muscular disorder it’s difficault to feel strong.

    thank you

  346. Site Admin
    February 19th, 2009 at 19:34

    Hello Miguel. Please read this website’s disclaimer just as a friendly reminder that there is no substitute for professional medical advice. Regarding developing muscular mass as a way to mitigate the cramps of McArdle’s disease…there are few if any studies on this. There is at least one study that suggests that diligent cardiovascular exercise improves symptoms. The lower body is where most people have more muscle mass, since your legs carry your weight. Attempting weight training when you have McArdle’s disease is very tricky because of the risk of failure-related injury. Don’t attempt any sort of upper body strength training without a slow, extended low-impact warmup period for those muscle groups; i.e., no amount of treadmill jogging will properly prepare your upper body to try push-ups safely. In general, anyone who can who enjoy some level of cardio and strength training stands to receive health benefits, even and perhaps especially with McArdle’s disease. The only difference is that we have to be a lot more careful getting there and work within our respective limits. Seek the advice of a physician and perhaps discuss these points. Be careful and be well.

  347. Miguel
    February 19th, 2009 at 19:19

    Hi. I was diagnosed when I was 17. I just needed a few neurophysiologic test as my mom was diagnosed he previous year ( age 44 or so) by muscular byopsy. I always had severe fatigue and cramps and the myogobine in urine after the cramps. However I never had such a severe episode when I am impaired of my ability to walk. I had los the use of my fingers and my armas for a few hours though. Reading your comments I wondered if developing muscular mass could help the cramps in a certain way. I lived from age 3 to age 18 in a 4th level without elevator and I do have unusually developed ( sort of disproportioned) legs while I am kinda skinny in the uppper body…

  348. Site Admin
    February 19th, 2009 at 17:42

    Hi Debby & Scott. Many physicians are still in the dark about McArdle’s disease. This page contains a small list of physicians who have a great deal of experience studying and treating this disease. If they can’t treat you directly, perhaps they can refer you to someone. I would also seek a second opinion, since symptoms like muscle failure – particular doing something as simple as holding a phone – may have other causes. Find someone with experience treating this disease, or otherwise have a second neurologist rule out McArdle’s disease. They can do this with an ischemic forearm test that is far less invasive and painful than a biopsy. Best of luck.

  349. Debby/Scott
    February 19th, 2009 at 14:10

    My husband, Scott, was diagnosed with McArdle’s just yesterday after 2 years of not knowing what was happening. He had muscle failure with the simplist movements/tasks. At times, he even had problems holding the phone. The nuerologist that diagnosed him only after us insisting he did the muscle biopsy, only wants to continue to see him because “he is the only McArdle’s patient he has ever seen”! He hasn’t given us any direction as to where to go from here. We live on the Northshore of Boston. We would like to see a specialist, but don’t now where to start??????
    We have gotten alot of info from the blog, what has help other people, things to try, but what type of physician should we be consulting??
    Thank-you, Debby and Scott

  350. Yasar Ayub
    February 13th, 2009 at 15:48

    Hi Kimberly. Thank you for your post. I just wondered if you had any more information about the gene therapy research that is taking place?

  351. Sandra
    February 13th, 2009 at 05:35

    I wondered if anyone has tried supplementing with ATP?
    http://www.progressivelabs.com/documents/ATP%20Plus.pdf

  352. Site Admin
    February 9th, 2009 at 02:35

    If you have McArdle’s disease, anaerobic activities can indeed cause serious muscle injury. Please consult a physician before undertaking a diet high in simple sugars, because the hypoglycemia that sometimes follows that “sugar spike” can make symptoms appear a lot quicker, while also potentially introducing other health problems. Also, be encouraged by the study showing the benefits of cardiovascular exercise on an individual with McArdle’s disease. It suggests that a disciplined regimen of walking and jogging along with a specific diet may improve exercise capacity.

  353. Kimberly Cavanah
    February 9th, 2009 at 01:41

    @Stephanie
    Stephanie as mentioned by a lady who posted earlier(Tammy quote#4) I never felt so good as when I was pregnant with my two children. I was diagnosed with two muscle biopsies when I was 26 shortly after the birth of my second child. I was devestated and realived at the same time. I was not the lazy child that everyone had always assumed and told me that I was. I have learned throught trial and painful error what my limitations are and try to live within that knowledge. I have tried Yoga, Tai Chi, swimming and walking all of which cause me pain and muscle degeneration. I have had several brushes with complete renal failure. The worst was when my CPK level went to 93,000. That happened after I pulled one of my dogs off of the other one when they were wrestling too agressively with one another. I never had an episode when I was pregant though. I have discovered that eating a couple of handfuls of skittles about 20 minutes before I walk into my work keeps my legs from burning(I drink about 3oz. of orange juice with 2 heaping tsp. of sugar if I don’t have the skittles)also when summertime hits I eat a bowl of watermelon in the mornings it works the best of everything. I have a 3/4 mile walk into my desk and two flights of stairs to go up every morning and am up and down the stairs many times during the day. I probably walk 3 miles at work all totaled. I am keeping my eye on gene therapy that is taking place now and would love to be a part of it when it is offered for human trial. You will notice that winter time is the worst for McArdles patients. My muscles naturally tighten(as do most people, normal or not)with the cold weather shivering doesn’t help it is like a work out on top of whatever work out you are getting by just walking or balancing on an icy parking lot or sidewalk. I notice that my instances of myoglobinuria are more frequent in the winter time. I admire the people that are still able to do athletic things. I just caution them that whatever muscle wasting they are causing by do any type of anerobic activity does not come back. Once it is gone it is gone forever.

  354. Scott Panter
    February 3rd, 2009 at 16:53

    I was diagnosed with McArdles Disease @ 25 years of age. I am now 60. I have had muscle issues all my life. I have been a part of several studies over the last 35 years and very little information or insights have come from these studies. I was also diagnosed with Macular Degeneration at about 31 years of age and some thoughts were given to the two deseases being related in some fasion. One retina specialist at Emory University did a study of my family and found no other family member with simular simtoms. My eye site is OK but I do have pigmentation that causes night blidness to some degree. The Doctors thought that during an McArdles episode the “trash” in my blood streem caused the pigmnt problem i=on my retina.

    I have been a bicyclist for more than 25 years and have found it is the best exercise for me. I have riden over 100 miles several times will little problem if I watch what I am doing.

    I have just found this web site today. Thanks for the outlet.

    Scott

  355. Cynthia
    February 1st, 2009 at 18:49

    We just recently found out that my nephew has McArdles Disease. He also knew something was wrong since he was a child and couldn’t keep up with the other children. He always kept this to himself, but when he pulled a muscle and had to use pain killers just to function, and brown urine he decided to tell his mom. He is now in his 20′s and as I write this he is in the hospital. He was given a paper from the doctor stating to be filled with fluids as soon as he arrives at the hospital. They did do this, his CPK’s were 49,700 when he arrived at the hospital and went to 51,400 after given the fluids. After 2 days in there it went down to 20,000 but shot back up to 40,000′s when he got out of bed to get dressed. Can someone please explain to me what CPK’s are and why these are still so high? I love my nephew so much and want to help him in any way I can and your website has helped me alot, but I am not sure about the CPK’s. Should he be on some medicine or something? Thank you for any info.

  356. christyallan
    January 31st, 2009 at 00:54

    June :@Alex I’m especially interested in anyone who has been pregnant and how their McArdle’s affected that experience.

    Hi i’m new 2 this site have been diagnosed with McArdle’s since 1996 @ 21 now 33yrs. I just read your post and i was pregnant in 06 had a little boy in june 07, pregnacy was fine, ate what i liked, don’t do much exercises. I had a sharp pain the day i was due to have him, went to hospital and was only 1 cm dilated kept in 4 a few days then told to come back, so a wk over due i went into hospital to be induced. I had gas & air then an morphine, then epidural, personally i still had a fair bit of pain. My son was born after 12hrs 17mins yes i must admit it was sore had to push my legs startes to sease up a wee bit was told my doctors to push i said that i needed to hold on 4 just a min 4 my legs and she said no due to him needing to come out and put me in stirips, this is when my legs hurt the most then finally he was out and all was ok and i thought thank god for that. I was fine managed to have a shower and then up 2 the ward. My advice would be to talk to your Dr when your pregnant and let the midwife’s and everyone know about it and get them put in the notes to speak to the people whom will deliver so they are aware e.g. the person that gives the anethsetic etc.
    Good luck responses are welcome this was just my expereince.

  357. Christopher
    January 19th, 2009 at 00:47

    Thanks for the info guys, I will look at the Yoga in the next couple weeks and kinda take it easy going from there. I will keep you posted. Thanks!!

  358. Allison
    January 17th, 2009 at 13:51

    I am so excited about this website. I was diagnosed with Carnitnine Deficiency when I was eight but never felt like it all made sence. I never had any test to prove that I had it. I have taken L-Carnitine since then but recently stubbled across McArdle’s. I was amazed and felt like I was reading my whole life story. As far as I can remember I have had exersice intolerance…I couldn’t even walk around my own house without taking a rest. My mother says that I would stop and squat even as a toddler when I would get tired. I have always craved sugar when I would get into these episodes and found that if I at sugar I would feel much better. I would have to say that the calf cramps are my key sign that I need to slow down and if I don’t I can also throw up and then my vision changes to black with lights. I have had cramps in my jaw from eating and even in my neck if I turn to look out the back of the car when driving. I haven’t been diagnosed yet, but have already taken the genetic testing and am just waiting for the results. I appreciate all of you taking the time to write your comments down..for those of us that have known there is a problem and haven’t had a diagnosis it helps to know that there could be one and without you all sharing I may have never stumbled upon a diagnosis to help the doctors find what was wrong with me. I am a 30y female that has been searching for my whole life for answers…I think I might have found them. I did want to make a comment on pregnancy…I have four little boys and when I was pregnant I was tired the first few months which is normal but then I felt better then I ever have and immediatly after the babies were born I could lose weight and exersice for about 6 months better then ever…then after that I seemed to go back to the way I was before.

  359. S. Reason
    January 16th, 2009 at 16:01

    It is through forums such as this that knowledge will be disseminated – slowly, but surely – just like us!!

  360. Debbie
    January 15th, 2009 at 22:12

    My name is Debbie and I am 46. I have had McArdles since I was a small child but was not officially diagnosed until 11 years ago. I have always tried to watch my activities. This June my boyfriend and I walked 1/2 mile straight uphill to the top of Clingman’s Dome in the Smoky Mountains. It took me FOREVER. The next day, I was sick with vomiting, cramps, fever, and had to spend a day of my vacation in bed. Then just recently in November, I fell and broke my left kneecap while on Vacation in California and got back home and had to have surgery. I am frustrated at my progress to bend my leg because of my muscle weakness in my quadriceps. Neither the doctor in the ER in California or my orthopedic here in Arkansas have a clue what McArdles is. I get so frustrated. It helps me knowing that there are others like me.

  361. Luke
    January 15th, 2009 at 18:20

    Christopher – almost anything, including yoga, can cause rhabdomyolysis. People with McArdle’s disease can hurt their muscles doing the most mundane activities healthy people take for granted, like carrying a child in their arms, or craning their neck to look at something, or even crouching in an uncomfortable position.

    I don’t want to make it sound like anyone with the disease should avoid physical activity, however, because a sedentary lifestyle may present the biggest threat of all. An inactive lifestyle with little physical activity acclimates the body to having no demands placed on it, which only increases the risk of muscle failure during what should be “normal” activities. Avoiding injuring your muscles demands a vigilance that is itself very fatiguing, and you often don’t realize you’re in any danger until it’s too late and the damage is done.

    Here’s a link to a study on the benefits of cardiovascular exercise in McArdle’s disease. The website requires free registration to view the full research PDF, but it is encouraging data.

  362. Site Admin
    January 15th, 2009 at 18:14

    Stephanie – http://mcardlesdisease.org/mcardles-research/mcardles-disease-and-pregnancy/ is a page with a link to a pregnancy case study. I have yet to come across a study on McArdle’s disease and relief from symptoms due to fetal expression of glycogen phosphorylase, but am very interested to read about this.

  363. Stephanie
    January 15th, 2009 at 17:52

    Hi Christopher, i have tried yoga many times and finally gave up on it. I felt too awkward sitting out the “bad” poses and stopped yoga. The Warrior pose is one of them. It requires you to be in a prolonged squat. That has caused some of the worst episodes for me and put me out of commission for three days on end, each time. I’m sure there are some McArdle’s sufferers who can do it, but I would be very careful. On the other hand, some of the stretching exercises in yoga have been wonderful for my flexibility and loosening of muscles. I often miss it, but right now swimming (breast stroke and back stroke, mostly) as well as walking (or the elliptical machine) have been the best exercises for me.

    I have read on another message board that women with McArdle’s have felt their best during pregnancy because the fetus supplies them with the enzyme they lack. Is there any literature on this? Can anyone tell me more? What were you able to do, that you couldn’t do before?

  364. Christopher
    January 15th, 2009 at 02:00

    Has anyone tried yoga or heard if that will cause an episode of rhabdo?

  365. Site Admin
    January 11th, 2009 at 18:16
  366. HayleyJ
    January 11th, 2009 at 15:38

    Victor, my name is Hayley and I was diagnosed with McArdle’s about 4 years ago. I am 18 and have been able to control the symptoms with moderate excercise and an amino acid called Alanine. I was diagnosed after a muscle biopsy. I have had symptoms all my life but my doctor’s said that I was just lazy and that I would grow out of it. When I was fourteen I was hopitalized with rhabdomyolysis and acute kidney failure. My doctors were terribly confused becuase most cases of rhabdo are in people who do heavy labor on a daily basis. As for your pain I also have severe pain in my thighs, calfs, upper arms, and lower back. When I am hurting I try to strecth lightly and take children’s ibuprofen. Also I have found that drinking plenty of water and staying away from caffiene helps to keep my muscles hydrated and reduces the pain. As for the exercise you might try walking for 10-15 min. at 1.2-1.5 mph. Make sure you don’t over exert yourself though. I am being treated by the formost McArdle’s specialist in the world, Dr. Alfred Slonim. He is based in New York. If you would like to contact him just type his name in on Google and his contact information will be on one of the sites, not sure which one though. Keep me updated and I will try to help as much as possible.

  367. Christopher
    January 10th, 2009 at 18:16

    I am a 37yr old male and was diagnosed 17yrs ago after a two week stay in the hospital. I was glad to know that I wasn’t just lazy after dealing with the symptoms since the age of around 5 or so. It’s nice to see this website up because back then there was little to no information on this. I have figured out by trial, error and a lot of pain what I can and cannot do over the years so I want everyone to know that we still can have an active life. I won’t tell you that it’s still not frustrating when people look at this 6’4″ 275lb man and wonder why he can lift weights or run around and a pain the the you know what dealing with it, but we can do it. I did a 5k run/walk or should I say walk/jog last year, pulled an airplane for United Way (I STRONGLY advise against that one!) and recently joined the YMCA. I have learned to take it easy and let all those around me know that I have this condition that requires me to take it slow. Only my 4yr old daughter doesn’t understand why daddy has to go so slow! :-) My 15yr old son knows about and understands (he still can’t beat me in a game of 1 on 1 basketball.) Anything that requires a burst of speed (ie baseball) or strength, stay away from! I still hike, but I go very very slow if going uphill, taking rest breaks along the way and use a big stick to help me walk. When riding my bike, I try to stay away from hills or I walk the bike to the top otherwise on flat surfaces I just again, GO VERY SLOW. If i get in the pool, I just play around because swimming uses more muscles that I originally realized. For basketball I don’t run a full court game, just half court and I stay away from the young guys who think they are Jordan! The treadmill is where I get most of my exercise. I found this site looking into the “Sucrose intake” and the B6 supplements before exercise to help me but I’m not sure which direction to go. I am not a doctor, don’t play one on tv and didn’t stay in a Holiday Inn Express last night. I just have had a lot of experience dealing with this. Hope it helped.

  368. Denise i Frias
    January 10th, 2009 at 03:47

    I’m a 33yr old mom of 2 boys I had my boys at a very young age before I knew I had McArdel’s I wasn’t diagnosed til 2yrs ago Its been kinda scary knowing something is wrong wit me I’m especially concerned now abt haveing more children but I just try to be mindfull of what triggers this illness&avoid it as much as poss. but do eat a lot of sweets so that I find gives me the extra energy I need…

  369. Victor Kowal
    January 7th, 2009 at 21:52

    Found your website while searching for info on McArdles. I’m 48 from Sydney Australia and have been diagnosed with a glycogen storage disease from a biopsy 3 months ago which showed vacuoles in the tissue. The doctor has diagnosed McArdles subject to a ischemic forearm test to confirm.
    I have constant pain in my calves, thighs and upper arms. Can anyone advise if this is symptomatic of this disease? The pain never fully goes away and is getting debilitating. Painkillers only work so much. Is there anything that can help to keep the aches at a bearable level.

  370. Brandi Lightsey
    January 4th, 2009 at 15:39

    @Clayton Blake
    Clayton, I was diagnosed at age 24 by Dr. Ronald Haller in Dallas, Texas. He is a Mcardle’s specialist and have completed 2 research studies with him. One in Dallas and one in Copenhagen, Denmark. He is associated with UT Southwest and Presbyterian Hospital.

  371. Site Admin
    December 29th, 2008 at 21:42

    Hi Janie, glad you found the site. Nope, you’re not alone and rather far from it.

    Hypoglycemia seems to be pretty common with people who have McArdle’s disease. Muscles are forced to look outside the cell for a source of energy, so blood sugar can drop abruptly. If you are aware of this and prepare in advance by having the right snacks with you (low-glycemic index foods like granola bars may be good) you can mitigate this by taking a break when you feel the onset of low blood sugar.

    Continue to visit this site and be sure to join the Facebook group (the link is on the righthand side of this site.)

  372. Janie
    December 29th, 2008 at 15:31

    I have just discovered this site and am surprised there is such a one! It’s nice to know I’m not alone in the world.
    I was diagnosed in 1978 from a biopsy at Univ. of Md. Hospital. At that time I was the 2nd case in nine years. Several years ago I saw Dr. Slonim in NY. I have to say the results for me, were less than stellar. that’s not to say, it might not be helpful for others; I guess I had very high expectations.
    I have been reading people’s posts and noticed no one mentioned having an extreme amount of trouble with hypoglycemia. Mine can bottom out very quickly eventhough I eat a high protein diet.
    In high school I used to push myself to keep up in gym and walking to the bus etc. Beside the muscle rigidity and heaviness in my legs, I would begin to lose my vision and see bright swirling spots on a black background, which actually caused me to be unable to see where I was going. I would always be incredibly thirsty and after drinking would get very nauseated. I don’t push that hard anymore, so don’t have that trouble very often. I just wondered if anyone else had that problem.
    Also, does anyone else totally and completely stiffen up under stress…like having to run in an emergency? I have had the worst cases of myogloburnia afterward with extreme pain causing me to be hospitalized. It’s one of the worst parts of this whole syndrome…not being able to act in an emergency.

  373. Shannon
    December 27th, 2008 at 14:00

    In an effort for those of you with McArdle’s to avoid complications when undergoing surgery, please get a MedicAlert bracelet stating you have a muscle enzyme deficiency. My daughter wears one all the time. You never know when an emergency will occur (car accident, etc) and I may not be able to get to her and she may not be able to tell them she has a muscle disease. The wrong anesthesia can kill McArdle’s patients. THIS IS VERY IMPORTANT!!!! Hayley had 3 surgeries before we knew she had this and we consider ourselves very, very lucky. When Dr. Slonim explained what could happen in surgery, it really scared us.

  374. Shannon
    December 27th, 2008 at 13:44

    Thank you so much. I have shared this website with her. She has read the letters from others with McArdles and realizes they all pretty much share the same story. She went on to Facebook and joined the group. Thanks again. Is there any research out there for an enzyme replacement?

  375. Site Admin
    December 24th, 2008 at 15:23

    There is a Facebook group of people with McArdle’s disease, click the link on the righthand side of this page. Getting in touch with many other people who share similar challenges can be helpful. There does seem to be a lot of variation in the degree to which people experience difficulty. The symptoms of this disease are exacerbated by secondary factors like cardiovascular conditioning, general level of physical activity and lifestyle, diet, and hormones. Some people find it almost debilitating, but others are somehow able to remain active and the disease doesn’t slow them down too much, and there’s no explanation for it yet. First things first, join the Facebook group.

  376. Shannon
    December 24th, 2008 at 13:13

    My daughter is now 18 but had her first flare of McArdles at age 14 with acute renal failure after a softball game. She has always complained with her legs hurting after walking short distances since the age of 2 1/2. The doctors would tell me she would grow out of it. Not to carry her, she would “toughen up”. She continued to dance-ballet, tap, and jazz, cheer, gymnastics, play golf and softball. Until this happened. This really limited her. She did continue her golf and softball career for a couple of years after this but it was such a struggle for her. She missed a lot of school because she was in and out of the hospital so much with such severe muscle pain. It effects her back, thighs, and calves mainly and when it gets really bad her upper arms. She had a muscle biopsy to learn she had McArdles and a year later we went to see Dr. Slonim in New York. He gave her an exercise regimen and started her on Alanine four times daily. I thank God for that man. I don’t know where we would be today if it wasn’t for him. Whatever you do, do not do the sucrose load before activities, please. That is the worst thing you can do. We did that for about a year before we saw him and we took some huge steps backward. My daughter has trouble sticking to her routine of exercise sometime and staying motivated. Is there anyone else out there like that? It seems that when she gets going really good, she ends up in the hospital again and gets upset about this and feels like it isn’t helping her situation. She also has trouble with vomiting alot with her McArdles. Does anyone else. This kind of threw Dr. Slonim off a little bit when she saw him. She does have one of the more severe cases he said. Winter (colder) weather is harder on her. Please, someone respond and tell me how I can keep her motivated. She is in college now and I don’t know whether she is really exercising daily or not. I am trying to get her to respond to a support group such as this, to be able to talk with others who have the same thing she has and experience some of the same things she has gone thru would be great for her I think. She says her friends really don’t understand her sometimes, why she feels like she does, but to “talk” to someone who does would be great I think. HELP!!!

  377. S2
    December 7th, 2008 at 22:11

    Not too long ago I found out about this disease and I am pretty sure it’s what I have. I turned 20 this year but I’ve had the cramps after running at school athletic days since I was 13. And the cramps aren’t the type where you can stretch your muscles out, it hurts extremely if I even try to move or rub gently the affected area and when they come it hurts enough to give me a jolt. It’s great to finally find a name for something in which I have very similar symptoms to and read about all I can from all your comments. Thank you!

  378. Site Admin
    December 4th, 2008 at 07:14

    Allie – for your doctor to rule out McArdle’s disease they’ll likely do the ischemic forearm test or a muscle biopsy, both of which are described in item 3 at the top of this page, “Diagnosis of McArdle’s Disease.” This website contains links to other helpful McArdle’s disease websites which your primary physician may find useful. Best of luck.

  379. allie
    December 4th, 2008 at 06:49

    I also suffers muscle cramps/back pain especially at my lower back since i was young but become worst this time (i am 37 yrs old now). There was an incident that i can’t stand up if i’m lying down. I can’t even move. My doctor just give me myonal and arcoxia… he also give me neurofenac- vitamins. How to check if i have this mc ardle disease. I want to exercise to trim me down but i am suffering from back pain. I can;t drive properly since my lower back is very painful.

  380. Ben
    November 30th, 2008 at 15:07

    Tammy :
    I was wondering if anyone experiences greater fatigue, pain, and swelling during the summer?

    My symptoms always seem to be exacerbated by colder weather and my suspicion is that this is related to blood circulation. Blood circulation is inhibited by colder temperatures. Daily aerobic exercise(brisk walking) has helped me deal with this.

  381. Stephanie
    November 25th, 2008 at 22:18

    Hi, I am a mum of a McAdles child albeit she is now 30yrs.
    To your question relating to energy in the summer months. Kerry has always functioned better when the its warmer(not very often in UK) in fact she lived for 2 yrs in Cyprus and I was amazed at all she could do there.
    Winter here is a completely differant matter. She struggles to the most basic daily tasks that us non McArdles take for granted. It makes me very sad.

  382. Stephanie
    November 24th, 2008 at 19:42

    I’ve known all of my life that something was wrong with me. I was never able to run and walking uphill or upstairs was always difficult. The severe muscle cramp episodes that stay for three days and are excrutiating, started in my early 20s and have been getting worse ever since. I was diagnosed in 2004, after another painful episode in my thighs (after a yoga session) and focused research. Since then, just knowing what it is and understanding the bio-chemistry has been very helpful in dealing with the disease. Right now, my left foot is cramped up because I tried to wriggle my foot into a boot yesterday. I try to live life as normally as possible, but there are limitations. I’m also very interested in how sufferers deal with pregnancy. It’s so nice to be reading about other people’s experiences with the disease. Isn’t it frustrating how slowly the research is moving along? I really wish there was some more effective way to ‘loosen up’ the cramps…some more immediate relief. The pain is so bad that the strongest pain killers don’t work. Best of luck to all of you!

  383. Tayler
    November 22nd, 2008 at 21:57

    Tayler is my 17 year old daugher who has had bouts of episodes from playing High School Volleyball for the past year. She has had 3 episodes of extreme muscle cramping from head to toe. 1 of which sent her to the ER. She also had a seizure in Sept. She is unable to walk for anywhere from 24-72 hours depending on the length of the episode. We have just spent the last week at MAYO, and she will have a muscle biopsy probably sometime in January. McArdles disease is what they are currently looking at. Please keep writing as the above information is VERY helpful. Thanks, Jodie

  384. Tammy
    November 20th, 2008 at 17:14

    I was diagnosed with MCArdles disease March of this year. I have struggled with pain and fatigue since I was 14. Being adopted no one knew what I had. In fact they thought it was depression. Finally, at age 37 I had a doctor who believed me and decided to do a muscle biopsy. This is how I was diagnosed. Its comforting to know I am not crazy and now I know how to deal with it. I have 4 children and dont have time to be fatigued. So I run regularly to keep my strength and energy up. As far as my pregnancies and McArdles the first trimester I was extremely fatigued after that I felt better than I can remember.
    I was wondering if anyone experiences greater fatigue, pain, and swelling during the summer?

  385. Clayton Blake
    November 19th, 2008 at 19:15

    I was diagnosed with McArdle’s Disease 2 years ago at 25. In 2003, did my morning exercise routine and woke up the next day unable to move. Spent 2 weeks in the hospital on that trip then had another episode in 2005. This time spent 3 weeks in the hospital, same symptoms. Doctors diagnosed me with chest wall pain accompanied by rhabdomylosis which didn’t fit. After talking to a neurologist and numerous doctors visits, the right diagnosis was made. Any one know of a research group for people like us?

  386. June
    November 11th, 2008 at 20:22

    @Alex
    If you are anything like me, you’ve always known something was wrong but all the doctor’s thought you were nuts or lazy. I was finally diagnosed this year when after a few minutes of riding my bike, my legs swelled massively and I began urinating a very dark brown color. I went to the hospital and my kidney’s had failed. I was in the hospital for 2 weeks and also had dialysis for 1 week. I’m 26 and am relieved to finally have a diagnosis to be able to tell people what is actually wrong with me. I’m looking for a support group to be able to talk with people like me. I’m especially interested in anyone who has been pregnant and how their McArdle’s affected that experience.

  387. Alex
    October 28th, 2008 at 05:59

    Im 21 and was diagnosed with McArdle’s disease last year. I was wrestling around and after I couldnt move. I layed in bed for 4 days without my kidneys working. I went to the hospitol and i had complete reno failure and rabdomylosis. I was in the hospitol for 3 weeks and went threw 2 weeks of dialysis. The doctors told me i had mcardles disease.