Journal
MUSCLE & NERVE
Volume 25, Issue 3, Pages 332-347Publisher
WILEY
DOI: 10.1002/mus.10053
Keywords
fatty acid oxidation disorders; hyperthermic syndromes; metabolic myopathy; rhabdomyolysis
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Rhabdomyolysis, a syndrome of skeletal muscle breakdown with leakage of muscle contents, is frequently accompanied by myoglobinuria, and if sufficiently severe, acute renal failure with potentially life-threatening metabolic derangements may ensue. A diverse spectrum of inherited and acquired disorders affecting muscle membranes, membrane ion channels, and muscle energy supply causes rhabdomyolysis. Common final pathophysiological mechanisms among these causes of rhabdomyolysis include an uncontrolled rise in free intracellular calcium and activation of calcium-dependent proteases, which lead to destruction of myofibrils and lysosomal digestion of muscle fiber contents. Recent advances in molecular genetics and muscle enzyme histochemistry may enable a specific metabolic diagnosis in many patients with idiopathic recurrent rhabdomyolysis. (C) 2002 Wiley Periodicals, Inc.
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