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McArdle syndrome - Symptom

Alternative Names

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

Symptoms:

  • 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: 10/15/2008
  • Diana Chambers, MS, EdD, Certified Genetics Counselor (ABMG), Charter Member of the ABGC, University of Tennessee, Memphis, TN. Review provided by VeriMed Healthcare Network. Also reviewed by David Zieve, MD, MHA, Medical Director, A.D.A.M., Inc.
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