McArdle’s Disease

McArdle’s Disease/Phosphorylase Deficiency:
autosomal recessive (linked to chromosome 11q); M>F
present with exercise intolerance, cramping, easy fatigue during adolescence
if severe  myoglobinuria and rhabdomyolysis
serum CK elevated
acute episodes  emergency  treat with hydration and alkalisation of urine (to prevent renal failure)
long term – gentle aerobic exercise program; awareness of risk of exercise induced rhabdomyolysis; avoidance of strenuous exercise;

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