McArdle Disease

McArdle Disease

McArdle disease (also known as glycogen storage disease type V) is a pure myopathy caused by an inherited deficit of myophosphorylase, the skeletal muscle isoform of the enzyme glycogen phosphorylase.

  • Glycogen storage disease V·
  • Autosomal recessive muscle disorder due to myophosphorylase deficiency·
  • Prototype of muscle glycogenosis manifested by exercise intolerance.·
  • In clinical setting, exercise related symptoms, including painful contractures, and, in about 50% of cases, rhabdomyolysis and myoglobinurea occur after brief strenuous isometric effort, or intense sustained dynamic exercise.·
  • Symptoms relieved by rest.·       Permanent weakness may occur.

Symptoms usually start later in life, affecting proximal greater than distal muscles

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