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.

408 thoughts on “What is McArdle’s Disease?

  1. Jim

    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.

    Reply
  2. Terra

    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.

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  3. Amanda

    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.

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  4. Austin

    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.

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  5. Yasmin Wahid

    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.

    Reply
  6. Kellie

    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???

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  7. Mark

    @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.

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  8. Ruben

    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.

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  9. Beth

    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.

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  10. Nancy

    @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.

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  11. mike

    @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.

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  12. Ross

    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.

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  13. Ron

    @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.

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  14. Alba

    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.)

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  15. Stephen

    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.

    Reply
  16. mike

    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.

    Reply
  17. Carrie

    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

    Reply
  18. Ruth

    @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.

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  19. Carleen

    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.

    Reply
  20. scott Effertz

    @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 🙁

    Reply
  21. Miguel

    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?

    Reply
  22. Mike Ryerson

    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

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  23. Vikki

    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!

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  24. Consuela

    @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

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  25. Ross

    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!

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  26. grace

    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.

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  27. Linda

    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?

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  28. Laura

    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.

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  29. sheila

    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.

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  30. Consuela

    @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.

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  31. Consuela

    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.

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  32. sheila

    @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.

    Reply
  33. Dianne Berryman

    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

    Reply
  34. Marcelo De Luca

    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.

    Reply
  35. Julie

    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.

    Reply
  36. Carleen

    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

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  37. Carla B

    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

    Reply
  38. Ruth

    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.

    Reply
  39. Mike

    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!

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  40. Sam

    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.

    Reply
  41. Ross

    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.

    Reply
  42. Liz

    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?

    Reply
  43. Ruth McKellar

    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

    Reply
  44. John

    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.

    Reply
  45. Heather Brannon

    @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.

    Reply
  46. RuthieMcK

    @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

    Reply
  47. Ruth

    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.

    Reply

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