McArdle syndrome

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McArdle syndrome is the inability to break down glycogen. Glycogen an important source of energy that is stored in muscle tissue.

Glycogen storage disease type V; Myophosphorylase deficiency; Muscle glycogen phosphorylase deficiency; PGYM deficiency

McArdle syndrome results from a defect in a gene that makes a protein called glycogen phosphorylase. As a result, the body cannot break down glycogen in the muscles. This may lead to weakness, cramps, and muscle pain.

The disease is an autosomal recessive genetic disorder. This means that you get a copy of the defective gene from both parents. A person who gets a defective gene from only one parent usually does not develop this syndrome.

A family history of McArdle syndrome increases the risk.

Review Date: 12/11/2006
Reviewed By: Brian Kirmse, MD, Mount Sinai School of Medicine, Department of Human Genetics, New York, NY. Review provided by VeriMed Healthcare Network.