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:
