Do I Have It?

How Do I know if I Have McArdle’s Disease?

Studies suggest that 1 in 100,000 people have McArdle’s disease, although the subtle nature of this condition and the fact that it is often confused for laziness may cause it to be under-diagnosed. The disease is serious but not life-threatening under normal circumstances; most people with McArdle’s disease find a way to live active lives.

Below is a list of McArdle’s disease symptoms. If you suffer from most of the following, then you should see a neurologist or your family doctor and talk to them about your symptoms, mentioning McArdle’s disease.

  • Are you of healthy appearance but experience pain and fatigue in your leg muscles while attempting to walk up stairs or inclines
  • During physical exertion, such as lifting or carrying things or swimming, etc., do you occasionally suffer from painful cramps that leave you in pain or even debilitated and ill for a day or more?
  • If the answer to #2 is “Yes”, do you ever notice dark-colored urine following such an episode?
  • Are you sometimes able to overcome a painful energy “barrier” and walk or bike for longer distances, following a warm-up period?
 

Please do not self-diagnose. If you experience these symptoms, mention McArdle’s disease to your doctor and point them to this website, which contains links to other sources of information on the disease as well as a list of physicians familiar with the condition. They can help you rule out this or any other cause. Always remember that you can get a second opinion, as well.

20 thoughts on “Do I Have It?

  1. bob

    Brief history- Crohn’s disease- iliostomy- was fien for about 15 years after got iliostomy- then started getting weak- muscles started with burning pain- like lactic acid- mostly in calf muscles and forearms- Brain fog- bad- muscles cramp and I’ll cramp in various muscles for days-

    When i try to excersize, I almost immediately get dizzy, muscles burn- get painful- tighten up and won’t release like normal muscles should- I get sweaty- shaky, dizzy- feel sick to stomach- if i keep pushing- I will suffer for days afterwrds- I always feel awful- but when i over do it- i feel really awful- Had a couple of incidents where I didn’t know if i wa goign to survive it- basically passed out- Heart pounds, head pounds- – memory problems which is unusual for me-

    Heat intolerance- cold intolerance- humidity makes the weakness worse- (My ‘thermal regulator’ is broken- can’t get comfortable- always too hot or too cold)

    been to 2 neurologists- nothing found- I don’t have dark urine- but I’m wondering that my muscles are simply not getting enough fuel- it’s like i run out of fuel rapidly- like a battery that drains-

    I will however get a ‘second wind’ where I can keep going sometimes after a brief rest- but symptoms are still present, just not as bad as when it makes me stop-

    Whatever is going on has disabled me- been searching for many years for answer-

    I thought maybe ketoacidosis, but sugar levels are fine- no ketones in urine-

    Because i don’t have dark urine- any thoguhts on which direction to look in for answer?

    Reply
    1. Site Administrator Post author

      Hello Bob, I can’t offer answers but I can tell you the Facebook Group is quite active on a daily basis, and so I think you’re more likely to get more suggestions sooner over there. Best of luck!

      Reply
  2. mike stanley

    Hi my symptoms are severe muscle cramps all over if work for more than 8 hrs a day or exercise moderately. Ive been to the doctors and my ck levels were high! My symptoms all fit except for dark urine.I do suffer from frequent urination and have found on days of real frequent urination i get severe cramps .I seem to also cramp really bad right after lunch and supper .Went for a muscle test where they listened to my muscles and said that was normal although i was cramping during the test. They suggested a mucle biopsy but i didnt go just try to deal best i could.What test best shows Mcardles disease

    Reply
  3. Shanan Macpherson

    This message is for Kim. I totally get the beer thing !!! I too find all my symptoms seem to vanish after a couple of beers. My doctor said I shouldnt drink as it could make things worse, but I don’t understand ?? It makes me feel better . How can that be bad ?

    Reply
  4. Raymon

    I come from Norway so sorry for my bad english.

    I have symptoms similar to McArdle’s Disease and I have been tested for metabolic myopathy and a variety of other muscle diseases. But the neurologist can not find anything with me. Would neurologist seen if I had McArdle’s Disease from the tests he has done in relation to metabolic myopathy? I do not know if he has taken a CPK test, but will he be able to see 100% sure if I can have McArdle’s from this test? I get a printout of my test results on Tuesday, so I’ll see if they have taken a CPK test and what the value was.

    Hope you understand my english
    Thank you in advance

    Reply
  5. Jim Ottesen

    Kim,

    I’m very happy to hear of your low CPK, but I would still keep an eye on it whenever a routine blood draw is ordered or you experience bad
    pain for no apparent reason. While you may not have McArdle’s, remember
    there are other neurological deseases that may cause some of your symptoms so if things become more difficult for you, consider having
    your doctor do a neurological consult. My very best wishes to you. I
    wish you good health and much happiness!

    Jim

    Reply
  6. Kim

    @Jim Ottesen
    Hi Jim,

    I just saw this post from you…
    For whatever reason, the CPK was not drawn that day. I had to go back last week to be drawn again and the doc’s office just called me today with the results. I think I’m going to try the B-12 sublinguels again…

    Kim

    Reply
  7. Kim

    Hi Jim…
    Doctor called today. My CPK is 44, so no McArdle’s! Back to square one I guess. Very frustrating…

    Thank you for your help, I hope you’re feeling well!!!
    Kim

    Reply
  8. Jim Ottesen

    Kim,

    I hope you got your results today and all went well, but I suspect
    that you have some issues to consider. Please keep us posted as
    I’m still concerned about your CPK and other kidney issues.

    Jim Ottesen

    Reply
  9. Jim Ottesen

    Kim,

    Frankly, I’m not as worried about the BP as I am about the other results
    which, depending on the levels, are worrisome. I am a little upset that
    your CPK level was not shown – I assume from that fact your doctor did
    not request that test. He should do so as soon as possible! That
    could give us a solid clue to McArdle’s Disease. The other levels could
    suggest lots of other things, and that’s fine, but you need the CPK
    level NOW! I suggest you take your blood pressure twice a day – once
    in the morning and once in the afternoon/early evening when things are
    normal, maintain a log, note any special stress items or meds and
    at the end of the week let the doctor have a copy and let us know the
    high, the low and the average. Be sure you take the BP the same way
    each time, have your arm at heart level and make sure you are not interrupted and you are at peace each time. When was your BP last
    at 90/60? Any heart, stress or other factors that might have caused the
    increase? Do you have sleep apnea, gout, rapid heart, weight or other
    issues? I’m anxious to see what your doctor suggests next. I know
    some neurologists can be difficult (like the one who told me to go
    on a sarfari), but if your doctor doesn’t soon identify your problem, more serious consequences could be down the road. Let us know
    the outcome. Jim Ottesen

    Reply
  10. Kim

    PS. I called the office and spoke with the nurse. She said my total protein, albumin, hematicrit, hemoglobin and myoglobin are high but the doc hasn’t seen the results yet. He’ll call me Monday. Incidentally…my BP has always been 90/60 but the last few months it’s been 135/80…

    I have to wait until Monday for the doctor to interpret the results.

    Kim

    Reply
  11. Kim

    Thank you Jim,

    My doc sent me to a neuro but he was not for me, looking for a new one. I have partial complex seizures also. My running distance has pretty much ended at 4.5 miles anyway. My dream of running the Boston marathon has been shelved (FOR NOW!) Having never been active before I started running, then loving to run, it has opened my eyes to the reasons I was never active before.

    About 4 years ago we took the kids to Disney and by the end of the first day I literally could not walk. I sat for about an hour thinking I just needed a rest…this and a few other experiences have been coming to mind. I learned to ignore pain/tiredness, which came in handy for marathon training. You have to learn to push through pain/fatigue to run 26 miles. Unfortunately it also got me a few injuries. I don’t ignore it anymore. I stop when I get the signals now. After that marathon I didn’t walk for 3 days and it took 3 months to walk w/o a limp. Talk about ignoring!!!

    Hopefully the doctor calls today.
    Thank you for replying! Best wishes to you also. You seem to really have a handle on this disease and IF I do have this, I will be asking you some questions!!!!!

    Kim

    Reply
  12. Jim Ottesen

    Kim

    Let us know what the lab tests show. I hope your doc is a neurologist
    and included a test for your CPK level. Your cramping, pulled muscles,
    weakness and “second wind” sensation suggest McArdle’s Disease, but
    things like fibromyalgia and mitochondria myopathy must also be considered. The one thing missing in “M” is the ability to convert
    glycogen into glucose so we can create the energy we need. Beer just
    might add enough sugar to your “mix” to help you. Since I am not a
    scientist or a physician, I will only suggest you ease up on any
    strenous activity, including distance running, until we get the results
    of your blood studies. Let us know the CPK. Best wishes to you.
    Jim Ottesen P.S. You should be with a neurologist right now.

    Reply
  13. Kim

    I’m waiting for some labs to come back, but doc suspects some kind of metabolic problem. I am a runner. I started running 2 years ago at age 41. It’s been a crazy experience, in that I had to learn to ignore pain and discomfort. My first mistake! I was determined to run a marathon, and I did finish one. I was always the last kid picked for a team in gym, hated swimming, biking, anything strenuous. But I decided to overcome my “laziness”. In the 2 years I’ve been running, I have pulled a hip flexor, achilles tendon and an IT band from hip to ankle. I’ve had such severe cramping I had to stop doing yoga. After a spin class I’d be in bed for 2 days. at times I have been too weak to do light weight training also. Doc thought I had MS. That’s been ruled out, but not before a spinal tap that had me in bed for 7 weeks.

    I am slowly getting back to running. I’m very careful to pace myself and I avoid trails and hills. By mile 4.5, I totally hit the wall. Very frustrating when I used to run 8-12 miles every Saturday. I don’t do any other exercises other than running anymore. It’s too much. To be honest, running is too much too, but I feel like if I give it up I will have lost myself. Training for a marathon taught me to ignore pain and to just “endure” so I didn’t realize there was a real issue until I was falling and was unable to run even one mile. Now I do stop when I feel a stinging pain throughout my legs. Feels like needles. My arms feel like an MSG reaction, blood rushing, heavy. I weigh 128 lbs, but there are times I feel like my arms and legs weigh 200 lbs each. It’s such a weird sensation. If I ignore these signs, I will be in a lot more pain for quite a few days. I try not to run 2 days in a row.

    2 things that seem funny to me is, the first mile I run is the hardest. I feel tired and my arms and legs ache. By the 2nd mile I can ignore that. The second thing is I notice I run much easier after 2 beers! Twice my brother-in-law came over for a run after I had had a couple beers. Both times I was able to do 4 miles and felt really good! Isn’t that strange???? I jokingly told my husband I’m going to put beer in my water bottle!!!!

    Reply
  14. Jim Ottesen

    @robert
    Robert,

    Your spontaneous “M” is unusual, but, nontheless, it sounds like “M.”
    What have you done since your last posting by way of other tests? Have
    you had the ischemic forearm test yet? If not, you should consider same
    with an “M” expert. You should ease up strenous exercise,and consider
    having y in “M”our kidneys checked for any damage – blood in the urine is not a
    good thing. You need to get a firm dx or find a new doctor. If you are
    near Texas, I suggest Dr. Haller – a research scientist as well as a
    leading neurologist/ specialist in “M.” Good luck. You must not stop
    until you have a firm answer – too much is at stake. Let us know what happens. Jim Ottesen

    Reply
  15. robert

    I all of sudden one day, had what seemed to be an infection or virus
    that acted like a stomach flu or some such thing. After that, I got painful severe cramps in the legs. I experienced this periodically, and
    ended up at a Neuro’s office. An EMG showed possibly minor nerve damage in the toes but probably not, but tests showed an elevated CK.
    My CK is always elevated, and once when moving last year, I had blood in the urine and a few weeks past, my CK went three times higher doing just minor exercise. I have the whole carrying shopping bag thing with
    pain and fatigue, and with the legs, and I stiffen up and get sore driving a long distance, not in the joints, in the muscle. I had a biopsy but it showed no glycogen storage, but my acid maltase is what they call intermediate, lower than normal folk, not enough for a dx.
    But my symptoms more resemble McArdles if anything. So far, no firm dx.
    If I exercise or do too much physical labour, I suffer for a week or more. I have had spontaneous lump show up with fluid and pain in one arm from using it. It is quite frustrating, but that’s my story in a nutshell.
    Robert.

    Reply
  16. Steve

    Thanks for getting back with me. I figured I only lined up with a few of the symptoms of McArdle’s Disease, and there are a few things that are tougher on me than others. Exercise is pretty much out of the question, even though I if you were to look at me I seem like a pretty fit guy. My body just can’t handle it.

    Either way, I’ve been going to neurologists for years now, and everyone is baffled. I’ve only met one doctor that thought he knew what was going on, and that was only after talking to me on the phone. Needless to say, he was wrong, and even though I have things more or less under control, I’m still looking for the right doctor that can figure out what’s going on.

    Thanks again,
    Steve

    Reply
  17. Site Admin Post author

    Steve, your symptoms don’t sound like McArdle’s Disease. Having said that, you still need to see a neurologist. Hopefully you’ve already done this. If it doesn’t go anywhere and symptoms persist, get a second or third or fourth opinion and scour the web. Good luck.

    Reply
  18. Steve

    I’m not sure if I have the disease, but I have very similar symptoms. Let me explain how this happened in the first place.

    In college I used to do recreational weight-lifting. I did it for three years, and then one day I got a muscle cramp that started in my forearms and worked its way up to my neck within 90 minutes. For some reason I couldn’t stop the cramp until someone called 911 and an ambulance came and someone shot me with something, I don’t know what it was. During my spasm, I lost vision for about a minute, and couldn’t make a fist enough to even turn a doorknob.

    I was in the ER for about four hours, and at some point fell asleep while doctors ran tests to see what happened to me. After waking up, the doctor told me that he didn’t see what was wrong with me, and let me go home. After getting home, I noticed that the spasm started coming back after only about an hour. Being a very health-conscious person, I tried to eat and drink whatever nutrients I assumed my body needed. Long story short, that night I went back to the ER at midnight because when I was trying to go to sleep, every time I would almost fall asleep it would feel as though I were being electrocuted if only for an instant. Enough so anyway that I couldn’t fall asleep and feared the spasm would happen again and possibly kill me.

    I’ve been dealing with whatever disease I have for about four years now. I still have issues falling asleep, only I MUST be laying down when I fall asleep. I can’t fall asleep sitting up, or else I feel like I’m getting electrocuted. I can’t lift weights or allow lactic acid to build up in any of my muscles or else I have a near-spasm that can last for hours. A nap or muscle-relaxer pill usually takes care of that. If I don’t have 6-8 hours of sleep, an entire day can be like hell for me. There are more things, but this is just the gist of what symptoms I have, and how it happened. No doctor seems to know what’s going on with me. There was a point when I couldn’t take a shower without a shirt on, but the warmer it is outside, the more forgiving my disease is.

    Some of the things I’ve noticed about McArdle’s disease that I DON’T have is that the symptoms are far worse in my upper body than my lower body, and I have no urinary issues whatsoever.

    Anyway, thanks for reading. I appreciate it,
    Steve

    Reply

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