McArdle Disease

What is McArdle Disease?
McArdle Disease is a genetic disorder that mainly affects skeletal muscles. It occurs due to the deficiency or absence of an enzyme called myophosphorylase. More information about McArdle Disease may be found on the NIH’s website: https://www.ncbi.nlm.nih.gov/books/NBK560785/

What is the prevalence of McArdle Disease?
McArdle Disease occurs in 1 out of every 100,000 patients in the U.S.

How is McArdle Disease diagnosed?
To support a diagnosis of McArdle Disease, muscle tissue is biopsied. The hallmark findings suggestive of McArdle disease are glycogen deposits and the absence of certain enzymes.

Is there any specific gene/pathway in McArdle Disease that has been identified?
Mutations of the PYGM gene deactivate the myophosphorylase enzyme and lead to McArdle Disease.

How is McArdle Disease treated?
There is no curative treatment for McArdle Disease, but nutritional supplements, drugs and exercise have been used therapeutically. More information on treatment may be found here: https://rarediseases.org/rare-diseases/glycogen-storage-disease-type-v/

Are there any clinical trials underway for McArdle Disease?
The National Institutes of Health (NIH) has completed 8 clinical trials for McArdle Disease. Currently, there are 6 clinical trials underway for the condition. More information on future studies and patient recruitment can be found here: https://clinicaltrials.gov/ct2/results?cond=McArdle+&term=&cntry=&state=&city=&dist=

How can RareShare be helpful to McArdle Disease patients and families?
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