McArdle's disease


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McArdle's disease

Glycogen storage disease V Metabolic disease An AR condition caused by muscle phosphorylase deficiency Clinical Exercise intolerance, premature fatigue, myalgia, and cramping

McArdle's disease

An autosomal recessive disorder of muscle carbohydrate metabolism in which glycogen breakdown is blocked because of non-functioning of the enzyme myophosphorylase. The effect is a considerable reduction in exercise capacity. Attempts at strenuous activity cause cramps, muscle injury, RHABDOMYOLYSIS and MYOGLOBINURIA. Ingestion of sucrose before exertion can markedly improve exercise capacity.
References in periodicals archive ?
A diagnostic cycle test for McArdle's disease. Ann Neurol 2003;54:539-42.
Randomized, placebo-controlled, double-blind pilot trial of ramipril in McArdle's disease. Muscle Nerve 2008;37:350-7.
Also called: Myophosphorylase deficiency, McArdle's disease, glycogenosis type 5