What is McArdle’s Disease?

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.

405 thoughts on “What is McArdle’s Disease?

  1. Jeanne (Jan)

    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???!!!!

    Reply
  2. submarine

    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 ..

    Reply
  3. Sandra

    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.

    Reply
  4. Jim Ottesen

    @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”

    Reply
  5. Lori Griggs

    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!!!

    Reply
    1. Mark

      @Lori Griggs,
      There are several types of carbohydrate metabolism issues, as well as several fatty acid metabolism issues. They all share similar symptoms such as rhabdo, myoglobinuria, muscle pain/crams, fatigue…etc and the differences/circumstances are subtle.
      Google “carbohydrate metabolism disorders”
      Google “glycogen storage disorders”
      Google “fatty acid metabolism disorders” (a good starter here is https://www.fodsupport.org/list.htm)
      There are several types for each, look through the symptoms of each to find a pattern. Generally speaking, the complications (rhabdo, cramps, myoglobinuria…etc) will occur quickly with intense exercise with the carbohydrate and glycogen related disorders, but will occur with longer exercise bouts with the fatty acid disorders. But look through each carefully to find your match.
      Hope this helps.

      Reply
  6. Mrs Ross

    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!!!!

    Reply
  7. Jim Ottesen

    @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

    Reply
  8. Site Admin Post author

    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.

    Reply
  9. Jim Ottesen

    @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

    Reply
    1. Mario Teles

      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

      Reply
  10. Anne

    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.

    Reply
    1. Anne S.

      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.

      Reply
  11. Anne

    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

    Reply
  12. Site Admin Post author

    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.

    Reply
  13. Shirley

    @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!!!

    Reply
  14. Jim Ottesen

    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

    Reply
  15. Diane

    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

    Reply
  16. Steph

    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

    Reply
  17. Jim Ottesen

    @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

    Reply
  18. Jim Ottesen

    @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

    Reply
  19. Allie T

    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

    Reply
  20. Erin

    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.

    Reply
  21. Lynda

    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???…..

    Reply
    1. Mario Teles

      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

      Reply
  22. Diane

    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

    Reply
  23. Jim Ottesen

    @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

    Reply
  24. Allie T

    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

    Reply
  25. Jim Ottesen

    @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

    Reply
  26. Allie T

    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!

    Reply
  27. Jim Ottesen

    @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

    Reply
  28. Allie T

    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!

    Reply
  29. Luke

    @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.

    Reply
  30. Brenda

    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

    Reply
  31. Edward Mann

    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.

    Reply
  32. Diane

    @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

    Reply
  33. Steve

    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

    Reply
  34. cassi

    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.

    Reply
  35. marlese weaver

    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

    Reply
  36. Laura

    @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?

    Reply
  37. Emile Thebaud

    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.

    Reply
  38. Betty Gray

    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

    Reply
  39. Jim Ottesen

    @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.

    Reply
  40. Jim Ottesen

    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

    Reply
    1. Mario Teles

      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

      Reply
  41. Diane

    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

    Reply
  42. marlese weaver

    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.

    Reply
  43. Gary Martin

    @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!

    Reply
  44. Jan Weekley

    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?

    Reply
  45. Jan Weekley

    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

    Reply

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