Adult-Onset McArdle’s Disease – Is There Such a Thing?

A quick Google search of “adult-onset McArdle’s disease” will yield volumes of medical abstracts on patient studies. I’ve seen plenty of other abstracts that point out that the disease is not often diagnosed until at least the second or third decade of life. Perhaps this is because this is around the time the body’s metabolism starts to slow down a little, and the “weekend warrior” injuries become more common (and considerably more complicated, without glycogen in the picture.)

There may in fact be an adult-onset form of McArdle’s disease. I also suspect that many newly-diagnosed adults have lived with the disease their entire lives and simply gone without diagnosis, “toughing it out”. (In another article, I talk about how children with McArdle’s disease in particular are particularly vulnerable.)

A concerted campaign to educate grade school gym teachers, pediatricians and health care professionals about McArdle’s disease could spare many people the punishment of trying to force their bodies to do things they simply weren’t equipped to do. This may enable them to participate in alternate activities tailored to their unique condition, and improve their health later in life as a result through earlier proactive management of the disease.

Ultimately the question of whether or not there is an adult-onset form of McArdle’s is probably not as important as is education and information. The more people know about McArdle’s disease, the less likely it is that children and adults who remain undiagnosed will suffer and live with unanswered questions.  Your feedback on this topic is welcome.

6 thoughts on “Adult-Onset McArdle’s Disease – Is There Such a Thing?

  1. Jim Ottesen

    @WENDIE

    Wendie,
    If not done yet, contact your MDA (Jerry’s kids) and I believe they might try to help you get started. In your case, if “M” is the culprit,
    an inexpensive start is a CPK blood test. If very high, we are close
    to an answer. To confirm, perhaps the doctor could skip the biopsy
    and just do the “ischemic forearm test” to measure lactate response.
    Is his weight under control? He must try to limit the pain meds as
    much as possible and ask his doctor for the new medicine to enhance
    energy without all the risks. I do not remember the name, but your
    doctor should. Let me know what you accomplish. Best of luck, Jim
    Ottesen

    Reply
  2. WENDIE

    MY BROTHER HAS BEEN TO ALOT OF DOCTORS IN THE PAST 2 YEARS. THEY SAID HE HAS EXCESS GLYCOGEN IN HIS SYSTEM. DO NOT HAVE THE RESOURCES TO TEST TO SEE WHAT TYPE OF GLYCOGEN DISEASE HE HAS. WE HAVE DONE MORE RESEARCHING THAN THE DOCTORS. WE ARE 99% SURE HE HAS MCARDLES. THE DOCTORS WHERE WE LIVE ARE NOT FAMILIAR WITH THIS SO WILL NOT DIAGNOS HIM JUST GIVE PAIN MEDS. HAD TO QUIT WORKING 9 MONTHS AGO FROM PAIN AND FATIGE. HIS WIFE IS SOLE PROVIDER OF FAMILY OF 3 AND DOES NOT HAVE INSURANCE NOW. IS TRYING TO GET DISSABILITY BUT THATS HARD WHEN YOU DONT HAVE INSURANCE. HE TRIED PRIVATE INSURACE THEY DENIED HIM CAUSE PAST HISTORY. DOES ANYONE HAVE ANY ADVISE OR KNOW ANYONE WHO CAN HELP HIM GET A DIAGNOSIS?

    Reply
  3. robert

    I somewhat disagree, since it is feasable that a virus or bacteria
    could theoretically infiltrate the body and affect an enzyme system.
    The fact that Pompe disease shows up in adults often age 50 plus is
    also supportive, since it too is a glycogen storage disease.
    I have postulated to the people involved in the research on Pompe, and
    they admit it is a possibility of a viral component, but nobody has looked at that yet. It may be especially important a finding in one who has a low level of enzyme but not definitive.
    There are a few cases of McArdle’s showing up in elderly people.
    It’s food for thought perhaps.

    Reply
  4. Sharon Collins

    When I was in PE in the late 60’s I actually had people run behind me and push because my jogging was so impaired. I suffered a lot of teasing and shame because I was so “out of shape.” I could agree with you more Stacey, if you’ve got it you have suffered a lifetime.

    Reply
  5. Stacey Reason

    It just doesn’t make sense for there to be an adult-onset of McArdles – either you have the enzyme or you don’t!!! Everyone I have spoken with has had childhood symptoms even though many were not diagnosed into their 3rd and 4th decade. A rare genetic disorder is not the first thought when a child complains of leg cramps or weakness.

    I couldn’t agree more – AWARENESS is the key!

    Reply

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