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Dev Med Child Neurol. 2012 Oct;54(10):886-91. doi: 10.1111/j.1469-8749.2012.04320.x. Epub 2012 May 23.

Myopathic causes of exercise intolerance with rhabdomyolysis.

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MRC Centre for Neuromuscular Diseases, Institute of Neurology, National Hospital, London, UK.


We review the muscular dystrophies and metabolic myopathies associated with myalgia and rhabdomyolysis together with some less well-recognized associations based upon the personal practice of the authors. A careful history and clinical examination will direct investigation towards an accurate molecular diagnosis. Non-specific exercise-induced myalgia in the presence of muscle hypertrophy and a high creatine kinase will point towards a muscular dystrophy. Symptoms occurring within minutes of exercise and with isometric contraction, especially with a history of a 'second wind' phenomenon, suggest a disorder of glycogen metabolism. In those patients in whom symptoms occur after prolonged exercise, infections, fasting, stress, and cold, a disorder of fatty acid oxidation should be considered. Heat-induced rhabdomyolysis caused by exercising in hot and humid climates should lead the clinician to suspect a mutation in RYR1. Serum creatine kinase level should be a checked in all children presenting with leg pains. A careful history and examination and laboratory confirmation of myoglobinuria will target investigations leading to a correct molecular diagnosis.

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