McArdle syndrome
Alternate Names : Glycogen storage disease type V (GSDV), Myophosphorylase deficiency, Muscle glycogen phosphorylase deficiency, PGYM deficiency
Definition
McArdle syndrome is the inability to break down glycogen. Glycogen is an important source of energy that is stored in muscle tissue.
Overview, Causes, & Risk Factors
McArdle syndrome is caused by a defect in a gene that makes an enzyme called glycogen phosphorylase. As a result, the body cannot break down glycogen in the muscles. The disease is an autosomal recessive genetic disorder. This means that you must get a copy of the non-working gene from both parents. A person who gets a non-working gene from only one parent usually does not develop this syndrome. A family history of McArdle syndrome increases the risk.
The disease usually starts when a person is in their 20s or 30s, but there is a very rare form that begins in infants.
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