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McArdle syndrome (glycogen storage disease type V)

Definition:

McArdle syndrome is a metabolic disease characterized by an inability to break down glycogen, an important source of energy that is stored in muscle tissue. Without glycogen, muscle strength and effectiveness are diminished.



Alternative Names:
Glycogen storage disease type V; Muscle phosphorylase deficiency

Causes, incidence, and risk factors:

McArdle syndrome is a genetic disorder which results from deficiency in muscle of a specific enzyme called muscle phosphorylase. The disease is recessive, which means that a person must inherit the defective gene from both parents in order to be affected. A parent who carries only one copy of the gene will not be affected.

Without muscle phosphorylase, glycogen cannot be broken down. Weakness, cramps and pain can result.



Review Date: 1/13/2003
Reviewed By: Douglas R. Stewart, M.D., Division of Medical Genetics, Hospital of the University of Pennsylvania, Philadelphia, PA. Review provided by VeriMed Healthcare Network.

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