McArdle syndrome
Alternate Names : Glycogen storage disease type V (GSDV), Myophosphorylase deficiency, Muscle glycogen phosphorylase deficiency, PGYM deficiency
Treatment
There is no specific treatment, but you can manage the symptoms by improving exercise tolerance and controlling physical activity. Avoid excessive or intense exercise. Dietary management should include having a supply of glucose (candy, for example) on hand if you need to replace energy.
Avoid general anesthesia.
Support Groups
For additional information and resources, visit the Association for Glycogen Storage Disease at www.agsdus.org.
Prognosis (Expectations)
People with McArdle syndrome can live a normal life by managing their physical activity.
Complications
Exercise may produce muscle pain, or even a breakdown of skeletal muscle (rhabdomyolysis). This condition is associated with burgundy-colored urine and a risk for kidney failure, if it is severe.
Calling Your Health Care Provider
Contact your health care provider if you have repeated episodes of sore or cramped muscles after exercise, especially if you also have burgundy or pink urine. Consider genetic counseling if you have a family history of McArdle disease.
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