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McArdle syndrome - Symptom

Alternative Names

Glycogen storage disease type V (GSDV); Myophosphorylase deficiency; Muscle glycogen phosphorylase deficiency; PYGM deficiency

Symptoms:

Symptoms usually start during early childhood. However, it may be difficult to separate these symptoms from those of normal childhood, and diagnosis may not occur until a person is in their 20s or 30s.

  • Burgundy-colored urine (myoglobinuria)
  • Fatigue
  • Exercise intolerance, poor stamina
  • Muscle cramps
  • Muscle pain
  • Muscle stiffness
  • Muscle weakness

Signs and tests:

The following tests may be performed:

  • Reviewed last on: 3/29/2011
  • A.D.A.M. Editorial Team: David Zieve, MD, MHA, and David R. Eltz. Previously reviewed by Chad Haldeman-Englert, MD, Division of Human Genetics, Children's Hospital of Philadelphia, Philadelphia, PA. Review provided by VeriMed Healthcare Network (1/21/2010).
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