Questions & Answers

McArdle’s Disease Questions and Answers

What is McArdle’s disease?
McArdle’s disease is a metabolic disease of skeletal muscle.  Humans need the enzyme muscle phosphorylase to convert glycogen to glucose within cells during physical activity.  In McArdle’s disease, this enzyme is either missing or non-functional.  The result of this inability to metabolize glycogen properly is premature muscle fatigue and risk of muscle injury.

How many people have McArdle’s disease?
It is estimated that McArdle’s disease affects 1 in 100,000 individuals. However, since the disease remains undiagnosed in many people until they reach adulthood, that number may be higher.

What is glycogen?
Glycogen is a storage polymer of glucose.  Muscles store glucose as glycogen in order to have immediate access to an abundant energy source during exercise.  Glycogen is replenished within the cell after it is depleted, which only occurs after hours of physical activity like running.  Marathon runners and athletes often consume large amounts of carbohydrates the day before an event in a practice known as “carbo loading,” intended to increase the muscles’ stores of glycogen and extend performance.

Is McArdle’s disease life-threatening?
McArdle’s disease is not by itself life-threatening, but muscle failure itself can be hazardous in a number of ways.  Strenuous activities depend on glycogen metabolism, and without the energy to sustain such activities people with McArdle’s disease may find themselves unable to finish what they have started.  While swimming, chewing and swallowing food, an episode of muscle failure can be disastrous.  People with McArdle’s disease should always remain aware of their limitations to avoid danger.

Is there a cure for McArdle’s disease?
There is no known cure for McArdle’s disease.  A number of genetic mutations responsible for non-functioning or missing phosphorylase enzyme have been identified.  To date, gene replacement therapies have not advanced beyond the experimental stage in animals.

How is McArdle’s disease treated?
Because the muscle injury that can occur with McArdle’s disease releases large amounts of protein into the blood, it can cause renal dysfunction and therefore demands medical attention.  Such injuries, known as rhabdomyolysis, may be treated with intravenous saline.  Refer to your physician for recommendations on treatment or if you have McArdle’s disease and want to take a pain relief medication.  By avoiding such injuries and participating in a good diet and regular low-impact aerobic activity such as walking – with careful warmup periods – people with McArdle’s disease can remain quite healthy.  Otherwise, there remains no consensus therapy for McArdle’s disease beyond diet and lifestyle management.

37 thoughts on “Questions & Answers

  1. Jane Howard

    Hello, i have been searching for info on McArdles for awhile now. My first cousin has McArdles. I know that it is hereditary. I have a lot of the symptoms like no strength in gym or sports. Could never compete. Could not climb a rope. I am 68 now and i have muscle weakness that comes over me with little effort like walking up a slight hill or climbing stairs. I read about wasting. I assume they mean weight loss. I used to weigh 115 lbs and i am down to 94 lbs. No reason for the loss. Can anyone advise me? What kind of Dr to see? Doctors around here have not heard of this disease. Just want to know what is wrong with me. Thanks

  2. Grissel vazquez

    Hi my name is gissel my son sebastian is a competitive swimmer (junior olympics level) a couple months ago he started having calve cramps during practice and they became more frequent doctor did blood work and his ck level was 435 a month later did another one and its was 497 he sent me to a rheumotologist did another one and it was in the 300’s he did the ichemic forearm test doctor said it was abnormal he thinks he may have mcardles disease doing an emg this monday yeaterday he ran a mile and workout with me no fatigue just sore all over today! His calves just been stiff none stop for three weeks now but no cramping! Any help is greatly appreciated as to we are devasted that he wont be aboe to swim anymore.

  3. briar

    Hi guys,
    I have a question I’m hoping you can answer for me.
    I have mccardles and am going for a procedure that requires a topical anesthetic , is this a risk? Or is it just
    If it’s injected? If you can provide any sort of answer I would be grateful.
    Cheers , Briar

  4. Olivier

    Hi my name is Olivier. Today I just got the diagnostic of Mc Ardle…Yesterday I did 70 push-ups and my CK is not at 25K and it’s still going up…in last July I trained for the first time in a year at the gym (bench press, curls) and I finish with a dark urine and with an incredible 175 000 CK. I was hospitalized for 5 days to get down my CK level…my question is 1. what should I eat to help my delicate situation 2. I am worried that I would get fat without exercise. I trained all my life and now everybody tell me to walk or to do bicycle…3. Finally what are the best tests to do to get the real diagnostic because the doctors seems to be lost and cannot tell me anything about my situation.

    Thank you in advance

    1. Jackie

      If you did 70 push-ups you most likely don’t have McArdles, unless you rested between them. I have McArdles and I have never been able to work out with weights either. Your ck level does however sound like McArdles. I have never been able to do 70 push ups, maybe 9 or 10 in my prime, and then my muscles would lock up. then I would be so sore with pain and muscle swelling. Be careful on your body because these injuries can really effect you later in life. I am 58 now and where I have strained and overworked my muscles all my life just trying to act like I was normal, sitting up all night with knots and swells aching so bad that you cannot sleep at all. now I have so much muscle weekness and wasting it is very hard to live a normal life. So please don’t over-do it, it will help you later in life.

      1. Site Administrator Post author

        70 push-ups

        Olivier, 70 continuous push-ups is highly unlikely for someone whose muscles who can’t metabolize glycogen (at least in Earth’s gravity.) That doesn’t mean there isn’t something else going on. As Jackie said be careful and take care of your body.

        1. Jose Felix.

          hello my name is jose felix, I’m from venezuela. I am 36 years old and for two and a half years I have been presenting constant cramps and during the first year of presenting these cramps I did not take it seriously, until a year ago I decided to visit an internist doctor who requested a series of blood tests in where I saw my CK level raised above 1000, at that time my life became visits to doctors looking for an answer until recently a neurologist gave me an idea about possibly suffering from mc ardles or congenital myotonia, (could not perform a biopsy, in my country there is no way to do it, because of the terrible crisis that we are suffering) however, reading and investigating both and the symptoms that I present I am sure that I present mc ardles. cramps, exercise fatigue, ck levels above 400, at least. what catches my attention is that always from my childhood I was always active sportsman, I studied and graduated in the military academy of my country as an army officer, which implies that the physical activity for me was something everyday, and never present these symptoms , ten years ago I retired from the army and my professional life was always active work in the railway, where I must walk inspecting railways at least 4 kilometers interday and as usual I always trotted 5 kilometers every day. I do not understand why I read the disease manifests from an early age and in my family history no one who knows has had symptoms related to mcardles. three years ago for reasons of not having time to jog for my work and other obligations, my physical activity decreased to a minimum, it was there when the symptoms began, I do not know if they can help me in my search to relate these symptoms to a possible card and that I can do to improve my quality of life. Thanks in advance.

          1. Site Administrator Post author

            Hello there Jose Felix, welcome to the site.

            however, reading and investigating both and the symptoms that I present I am sure that I present mc ardles.

            A muscle biopsy is only one way to diagnose McArdles, there are also a number of genetic tests that will sequence the PYGM gene in various levels of detail. Have you visited the Facebook group? Chances are you may encounter someone making the same journey.

  5. Elizabeth

    I have a question to ask. My fiancee has McArdle’s. My question is …. since he has McArdle’s will it cause a PSA test for Prostate cancer be abnormal. I am not sure but if normal numbers for a PSA test is like 4 or lower. his first test was 37 . He has done another test but we have not receive the results. I guess what I am asking could his McArdles be giving a false reading?

  6. Julie

    @Jim Ottesen
    The Ischemic forearm test to me was extremley painful. IIf you are ok with needle, that is fine. But they had to use four different veins to get a good one for the test. Ihave yet to get an answer on my results, but please do not tell people it is pain free.

  7. cody,

    can a person with this be able to run 5k runs or even marathons at remarkble times??? my brother was just dignosed with this and has been running for 5 years until recently collasping and geting knocked out from complete muscel failure.

  8. eduardo lopez

    My wife( age 32) has McArdle’s disease and just found out she’s pregnant. She keeps getting abdomen cramps and we’re really concern that this could induce a miscarriage. Is there any information available about pregancy and McArdle’s?
    thanks very much

  9. Dawn Zalud

    Dear Jim;
    I am 54 and newly diagnosed with McArdle’s disease with wasting.
    My questions are: Can it affect the heart muscle? Can it affect breathing? Can it cause weakness of the eye muscles?
    Of the Drs I have: Internist thinks Neurologist is “reaching” for a diagnosis, and still believes it’s Neuropathy and FM,
    Neurologist has diagnosed M, as yet has not advised me on anything to do for M, except take 18,000 units of Vit E a day. I’ve ben researching symptoms of M, nothing so far is indicating anything like the above symptoms I have been experiencing.
    Your help in finding someone to help answer my questions would be appreciated.

    Dawn Zalud

  10. Gina N.

    Hey, I’m 28, I was very casually rediagnosed by a neurologist. I was primarily diagnosed with Secondary Carnatine Deficency at age 12, then the second neurologist said ten years down the road that I had McArdles disease. Ok its gotta be some irish dude who found out this disability. I’m irish too!

    I mostly just want to knod is if my neurologist was barking me up the correct tree and if anyone else had similar symptoms as I do.

    Over the years I’ve been just living. My grandmother put me on various forms of Vitamins, I was prescribed L-Carnatine, but then I started to smell fishy, and urinate a lot so I stopped that as that was evidence that I had enough. I really couldn’t tell the difference.

    My life has changed in the past couple of months and I have been in more control of what I am eating. I’ve lost weight. I never really had any issues of bladders other than a bladder infection once every other year.

    I’ve been working more on walking. My grandmother would find excuses on discouraging me from excersizing over the hears by making up various scare tactics not even talking about my MD at all.

    I do have the severe cramping if I go too far. I always say “I can’t spoil my desert” as I tend to usually have something sugary before I eat, especially if I’m tired.

    I am still trying to put pieces together, I haven’t go to MDA clinic in a few years and I plan to go back and gather more information.

    I was a “Floppy Baby” but I didn’t have any cardiac problems, I wasn’t strong enough to breast feed, so I drank from a bottle.. I didn’t start walking on my feet until I was 2 years old. I walked on my knees prior then.

    I did go for physical therapy during Pre K. They worked on me walking with inclines and stairs and tried to help me with balencing. Yeah thats another thing I can’t balence worth a darn.

    And swimming? I can pretty much only do the dead man’s float. Otherwise I walk pretty well at the bottom of the pool. I pretty much use a waist float.

    My heart is fine, I started taking atenolol after age 21 due to some rhythm issues and have attempted to stop all caffine intakes. Though it’s really hard to stop chocolate. Though the heart thing has been better due to me now being in a lower stress environment.

    I have also noticed when I’m more stressed, I don’t really want to eat. Thus the muscle cramps do increase.

    But now I’m eatting better. More Grains, More proteins, and sugars as needed. And celebrate once in a while with a girly beer and a amouretto sour.

    I feel more at ease at reproducing one day in my life. I’m actually looking forward to the idea of feeling better and to knowing that my child probably won’t go through what I have.


    My hands are really good at playing violin and guitar and knitting. Though if they are cold and I imediately start doing something I get cramps. If I play music for a long period of time my hands get really hot like a fever.

    My Hips hate me. I hate them to sometimes especially when I want to get up. They are usually the first leg muscles to cramp. I usually have my boyfriend pull me up out of chairs. And well.. curses to those stuborn muscles..

    If it isn’t my hips its my knees. I refuse to crouch on my knees. Or my legs hurt like … well you know.. PG..

    But yessss… If theres anyone who would like to talk or chat with me just to relate and defer disabilities from infancy even, that would be great. pceflwrgrl at is my email address, I am on facebook just give me a message that you want to talk about McArdles with me. And I have various Instant messengers as I’m currently not working I’m pretty much free to chat during the week days.

    I’m working on my own personal excersize regime. I was taken out of phys ed as a kid so i wouldn’t “Ruin my muscles” so I’m working with my boyfriend on what stretches to do to make my “second wind” and I’m going to start walking 2 miles a day 4 days a week. I’ll even cary a Granola bar with me and I’ll be happy! Because I want to be as top as physical shape as I can.

    If it all works out and I have no cramps after doing that for a while, I’m going to invest in a eliptical bike and I’m going to turn on my pilates video and do two minutes more than I did the last time I did it. (Trust me, I did two minutes then I watched the rest and the calories melted away, I swear to it! I Lost 2 lbs just doing that..)

    I don’t know for anyone else, but I gain weight pretty fast, but it melts away for me pretty fast too. Though right now i’m 5’5″ and I’m stuck at 141 lbs. I did lose 15 lbs in a month though, that was supposed to be my resolution for the year.

    But I most of all just want to be stronger. I want to one day have a child and be able to hold it and carry it whenever it wants to be loved.

    And to proudly walk my own dog every day!!

  11. Dawn Zalud

    I’ve recently been diagnosed with McArdle’s disease with wasting.
    I need to know if McArdle’s can affect eyesight, as in double vision due to weak muscles? Can it affect the heart, as in rapid heartbeat and atrial flutter? Can it affect breathing, as in sleep apnea? What is the relationship between Diabetes II, McArdle’s Disease, and heart disease?
    I have fixed weakness in lower back, hips and thighs. The cramping can leave deep bruising that will be sore for weeks. I also suffer from Neuropathy of both feet, and have restless leg syndrome. Are all these things inter-related?

    1. Beverly Allen

      Hi Dawn:
      Hurry and have that baby, it wont tranfer to the baby it skips a generation, I was diagnosed at age
      40, and retired with a medical disability (MCD TypeV ) and both parents must be a carrie, I am now 60 and life has been a big change, I have the same symtoms you spreak off and they are real, the best you can do, is what your body allows you to do, meds dont really help they just mask the underlying problem, I find that vitamin B6 really helps good luck and HAVE THAT BABY!!!

  12. greg

    I was just diagnosed with Mcardles. I am wondering if you would know about the three things I have going on. I have Non Hodgekins Lymphoma, had abone marrow T-plant, and thank god my cancer is in remission.
    I developed Diabetes, and also have neuropathy in my hands and feet from the chemotherapy. I have no feeling in them at all. I was wondering what effects Mcardles would have on this? I just Had My muscle biopsy last week so all the results are not in. Suggestions would be greatly appreciated and maby some questions that need to be asked. I have been doing a lot of research, but some help would be greatly appreciated.


  13. Kenneth Brown

    My name is Kenny an I was diagnosed with McArdles about 12 years ago.

    I have other health conditions (type 2 diabetes, obese, severe hypertension, sleep apnea) that make my activities of daily living difficult.

    I am currently working on disability due to my inability to function on a daily basis.

    Even getting dressed in the morning is difficult. I feel to bad to even try to exercise. My CK was 587 which is better than it was years ago. It was 12000+ when I had my muscle biopsy.

    Is there any other individuals out there that have had to file for disability based on McArdles and other health issues?


    1. Nelia Teles

      Hi my name is Nelia and my husband Mario has MD was diagnosed in 1995. At this time he is trying to get on permanent disablility because of MD. He also had a Kidney transplant in 2007, has hypertension, high cholestorol all due to the kidney problem. I would like to exchange information with you if possible. If you could please email me at We live in Caslifornia.

  14. Jim Ottesen

    @Diane Partridge
    Great news on the OK for genetic testing to confirm any doubt about
    about McArdle’s Disease. However, I remain concerned about Robert’s
    coffee/coke colored urine. You need to get as soon as possible
    hemasticks to check for blood in the urine if he has the darker colored
    urine. If a bad reading, you will need the blood tests (for CK, etc)
    and urine (for blood and protein,etc.).
    Yes, moderate, aerobic exercise is great, but often others translate
    that to muscle building and I feel that could be harmful to Robert.
    LIGHT weights, recumbent cycle, treadmill, rowing machine and exercycle
    are OK in moderation. Until we have Robert’s “M” confirmation, we must
    go slow. We want him to stay fit, but too much muscle deterioration
    in the kidneys can result in acute kidney failure.
    As a suggestion, I would suggest you maintain a graph of Robert’s activity 48 hours prior to a urine and CK test to evaluate the effect
    of just how much the CK goes up as a relationship to activity. I would
    also check with your doctor, neurologist or nephrologist to see at what
    level would they consider a CK, urine, or other response as a danger to Robert’s kidneys. Then, I would ask for their honest opinion if Robert
    is approved for wrestling, weights and moderate exercise.
    At the moment, Robert (thanks to you) is eating, drinking and taking the
    right vitamins and supplements. Let’s hope the news gets better and
    better. I pray Robert improves, he can do the wrestling and moderate
    exercise without any problem. By the way, my son’s name is Robert.
    Please pray for the folks in Haiti.
    Best personal regards,

  15. Jim Ottesen

    @Brenda Krushnisky

    Hi Brenda,
    I, too, have the pre-diabetes problem and McArdle’s. I do the best I can to avoid sugar, reduce carbs and add protein, exercise as often as possible, take B-6 (to 100mg), a strong multi-vitamin (Theragran M),
    20 to 30 grams of whey or egg protein, a good greens formula and lots
    of water. If one has a weight issue, try to get rid of the problem. Avoid muscle stress, focus on cardiovascular exercise, have your urine
    and CK checked any time you feel overly tired or feel too much muscle
    pain or at least twice a year and make sure you have an excellent internist for follow-up.
    Diabetes is your biggest problem – do all you can to beat back that
    problem. “M” is a big pain, but if you protect your muscles, you protect
    your kidneys. Don’t lift heavey “stuff” and don’t overdo anything.
    I hope this helps you out. Let me know if I can do more.
    Pray for the folks in Haiti.
    God bless,

  16. Diane Partridge

    Hi JIm-
    Just an update on Robert. Thanks again for all you are doing for patients with Mcardles. The good news is no pre-authorization is needed for genetic testing and they can use the muscle tissue from the biopsy, results in about a month. The less than good news is Robert tried light workouts the past couple of days, no cramps or muscle pain except what sounds like lactic acid buildup, but colored urine this morning (light coffee color) so no workout and lots of water today. He has upped his water intake, is taking B6 and whey protein. His CPK was measured the day he woke up with weak legs (last July) and it was 12,000 (196 high end normal) and one of the days he woke up with weak arms (this November), the first lab measured it at 222,200 which stills seems unbelievable, so a day later I took him to the other blood lab in town and it measured 9,900 still high but not as gut wrenching. The lowest it has been measured was in between (August) a week after football camp ended it was 1,100 (no weakness no pain). The article at titled “Mcardles disease: what do neurologists need to know?” talks about moderate aerobic exercise being good, and that serum CK levels decrease with training, they cite an article in the Clinical Journal of Sports Medicine 17:297-303 (2007). Because Robert’s pain/exercise tolerance symptoms are mild, he would really like to stay fit and active as much as possible. We just need to figure out how to do that. I am having the biopsy test results sent to our local doctor, and will set up a follow up appointment with him. Thanks again.

  17. Brenda Krushnisky

    @Jim Ottesen

    Hello Jim,
    My name is Brenda and I am a 45 year old female from Ontario, Canada. I was diagnosed with McArdles 9 years ago, and 6 years ago Type 1 Diabetes. The diabetes has sure made the McArdles much harder to manage as they are both battling each other, one cannot use the carbs, the other needs the carbs. Have you encountered any other patients with both diseases such as mine together? I ended up in emergency with a very, very high sugar level 6 years ago, almost to the diabetic ketoacidosis stage, and a intern was very excited to talk to me about the McArdles, he has just read an article in the New England Journal of Medicine. I guess I am a bit of a freak of nature to have two completely different channeling diseases which both affect the pancreas. I would love to hear back from you or anyone else who is a double disease sufferer such as myself. Thank you.

  18. Jim Ottesen


    I am glad we can help. If Robert does not have pain, does not tire
    on exertion, does not suffer leg cramping, his level of McArdle’s is
    not as serious as most. Having said that, remember that the disease
    can progress in some people and acute kidney failure is always a risk.
    He must always be aware that darker urine as much as 48 hours after
    muscle stress is not a good sign and warrants a hemastick test. As additional precautions, blood tests(for CPK, etc.), urine tests for
    blood and protein every quarter during competition is prudent. As
    for an exercise program, the focus is on aerobic – not anaerobic.
    Cardiovascular versus heavy weights. While not essential, the results of the
    Non-ischemic forearm test and genetic tests should help to confirm
    the seriousness of Robert’s disease. The dietician can help a great
    deal with an analysis of percentages of carbs and protein and which
    supplements might help. However, she must do her homework before she
    offers any suggestions. We do not want to create problems from food.
    A carefully selected personal trainer who knows – and will respect –
    the risk of muscle strain can be of great value, but must be monitored.
    Physical therapy is not indicated unless we have severe muscle strains
    or pulls. I am still concerned over the fact that Robert has woken up
    with weak arms and/or legs in the last six months – those days would
    be perfect to use the hemastick and/or check the CPK. Remember, “M”
    can literally destroy muscle tissue and that same tissue can clog the kidneys
    so caution is uppermost for the McArdle’s athlete. Please keep me informed as to your doctor’s thoughts, the tests and progress.
    I hope this helps. Let me know. Best wishes, Jim

  19. Diane Partridge

    We are waiting for pre-authorization from insurance company for genetic testing. After reading your great info, I looked some more, the neurologist who diagnosed Robert is a co-director of local MDA clinic in Portland. He did say research was inconclusive, but B6 and creatine could help. He also said lots of fruits and vegetables. We have started Robert on B6, whey protein, and he was told to drink lots of water, enough that he has to pee every 2 hours. Robert is determined to wrestle, his is a very small school, his coach says its up to him. So he has agreed to drink lots of water, eat a granola bar 30 minutes prior to practice, and take it easy. To be clear, he has NO cramps or muscle burning at any time, he just has the high CK counts, and has woken up with weak legs or arms 3 times in the last six months. His urine and kidneys tested clean. He has normal glucose readings. He is musclular and athletic. It sounds like the challenge will be for him to balance his exercise to stay fit and not bring on symptoms of Mcardles. I have requested copies of his biopsy and blood tests from OHSU but am waiting. When I get them I will forward to you. I will ask the nreurologist about ischemic forearm test, but he said the biopsy was very clearly showing Mcardles. I will ask about hemasticks and periodic CK tests. If you have any advice on where to go to design exercise programs, monitoring (frequency of hemasticks and CK test), and diet let me know. We do know the dietician at our local hospital. We have a good physical therapy clinic locally. Thanks again for a most excellent site, it is very valuable. We greatly appreciate it.

  20. Jim Ottesen

    @Diane Partridge
    Any news? There is a non-ischemic forearm test that is being successfully used to confirm the biopsy and it is virtually
    pain-free. I also suggest a DNA or genetics test for your son. I
    really feel more clarity is essential. I suggested a second opinion
    through MDA or another neurologist that deals regularly with
    neuromuscular testing procedures and afflicted patients.
    There are so many things that could be a problem. You must
    try to remove any ambiguity.
    Good luck to you! Please let us know if we can help.

  21. Jim Ottesen

    Yes! Your son sounds very much like he has McArdle’s Disease. The normal
    for CPK is like 50 to 250. 12000 is very bad and your son could suffer
    acute kidney failure if muscle stress and hard work contine to cause high CPK readings. Forget the EMG readings as they mean almost nothing
    where McArdle’s Disease is concerned. While there are milder “forms”
    of “M”, they can all result in serious results if not carefully monitored. I have posted many effective tools to help live with “M” so
    I encourage you to read them to help guide Robert. Whey protein, lots
    of vegetables, fruits, 6 to 8 glasses of water and a greens formula will
    help. L-Carnitine (to 500mg) and B-6 (to 100 mg) help a great deal. If
    you want to send me a copy of his biopsy, I will review it. I am not a
    doctor, but at 72 and having “M” since birth I know too much about lab
    tests. My e-mail is I also suggest the ischemic
    forearm test and the genetic blood test to confirm McArdles. Periodic
    blood and urine tests are appropriate and, unless Robert has high glucose readings, I wonder why he would be restricted to diet colas.
    At this time, Robert should not be in competitive sports, he should
    never go in the military and a light exercise program is in order.
    As to a second opinion, if you can find a neuromuscular doctor specializing with afflicted patients (like one with the MDA) it would be
    a good idea for the tests I have mentioned above. Robert may be in some
    expected denial of his fatigue, and cramps often happen later in the
    evening. I would suggest hemasticks to test the urine for blood if
    the CPK continues high. I hope this helps, but let me know if I can do more. My best wishes to you an Robert. Jim

  22. Diane Partridge

    My 17 yr old son Robert was just diagnosed with M with thigh biopsy by a neurologist BUT many of his symptoms do not match. He does not have fatigue, cramps, or “blasting” during exercise, he has had uncontrolled muscle weakness the next day. Last summer his legs collasped he fell hit his head went to ER found very low K (2.4) and later high CK 12,000 after hard physical work for a week at Boy Scout camp. The next month after football camp, no symptoms of muscle cramps or fatigue but CK of 14,000. The next week went to nephrologist CK 1100 urine and blood clean otherwise. No myglobulin in urine. First neurologist normal EMG. Started wrestling, woke up with weak arms, CK 10,000. Last nuero said no military, easy exercise, high protein diet, diet pop not regular, no sugary drinks, need genetic test to confirm M. Should we seek 2nd opinion? Should he eat more carbs? Could it be a milder form of M without exercise induced fatigue and cramps or myoglobulin in urine?

  23. Jim Ottesen

    Rebecca, You mentioned you have “m”, but you told us you have never
    seen a neurologist, did your rheumatologist do the diagnosis? How did he
    make the diagnosis – what technique? Ischemic forearm, leg biopsy or
    blood test? I am concerned your situation might be complicated by
    other issues and feel a board certified neurologist with a speciality
    in neuromuscular diseases is essential to confirm your diagnosis. I
    know you are having a time finding one, but keep trying, it’s very
    important. Good luck! Jim Ottesen

  24. rebecca Roark

    Jennifer I am 21 and have ‘m’ as far as my sex life goes if he has the energy and strength there should’nt be a problem. But sometimes he might need to rest or maybe you could just do the work more often. Sometimes my husband gets frustrated because he has to do most of the work but he understands. The more you know and the more you understand about the condition the easier the issues will be to deal with. And try to be as supportive as possible the more support you give him the less anxiety to perform there will be. And just be ok when he needs to rest. I’m possitive that if your supporitve and understand the need to rest it will be great. And remember it wont happen every time.

  25. Jim Ottesen

    Jennifer, While at 72, I may not be the perfect responder, I can
    tell you that wonderful man has shared a fact that many put on
    a back burner. In fact, it would be ideal if we knew more about
    the extent of his condition. In any case, have you taken long walks with
    him, danced for a few dances, been swimming or exercised together?
    If you have, without him being too tired, your sex life should
    be just fine. Foreplay is always a good thing in any sexual relationship, but sometimes more important for the “M” person as
    a long and strenous sex act without a climax can be too tiring and
    result in an involuntary need to stop for awhile and rest. Jim Ottesen

  26. Jennifer Bauerle

    Im interested in a wonderful man who told me he has this disease. I was wondering if our sex life would be the same as that of any other couple, and if not, what I should expect.

    1. doyle smith

      I’m new to this site, I have ‘mold illness’, another illness unrecognized by most doctors. I am being treated. I have many of the symptoms of McArdles Disease and think the mold has triggered my McArdles gene to express. I’ve always had the ‘second wind’, but I called it the ‘trigger’ instead. I was a very good athelete. I am heterozygous for McArdles (the 50 gene on one alle only) but I also have AMP1 Deficiency Heterozygous also, the ‘sprinter’ gene. Even though I am not homozygous for McArdles, just heterozygous and the same for AMP1, I am wondering these (2) together basically make me full McArdles, since McArdles effects AMP1 anyway, and I have compounded effects. Anyone know of this compounded issue and how this works? thanks!

      1. Site Administrator Post author

        Hi Doyle, welcome to the site.

        I have many of the symptoms of McArdles Disease and think the mold has triggered my McArdles gene to express.

        I don’t know of any research on a relationship between mold illnesses and acquired or otherwise late-onset McArdle disease, but you might pose this same question to Andrew Wakelin over on the Facebook group. You can also share anything useful you have found published on this topic.

        Even though I am not homozygous for McArdles, just heterozygous and the same for AMP1, I am wondering these (2) together basically make me full McArdles, since McArdles effects AMP1 anyway, and I have compounded effects.

        If you haven’t already done so, I encourage you to bring this up with a physician. It’s hard enough having 1 metabolic muscle disease. 2 or more could certainly compound health risks and that seems worth a second set of trained eyes.

        Best of luck,


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