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McArdle syndrome - Symptom

Alternative Names

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

Symptoms:

The symptoms usually begin as a young adult. They may include:

  • Muscle pain
  • Muscle cramps
  • Muscle stiffness
  • Muscle weakness
  • Intolerance for exercise
  • Exercise can produce a burgundy-colored urine (myoglobinuria)

The symptoms can be reduced by avoiding strenuous exercise.

Signs and tests:

The following tests may be performed:

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