Rhabdomyolysis in childhood. A primer on normal muscle function and selected metabolic myopathies characterized by disordered energy production

Abstract

Patients with rhabdomyolysis present an important clinical problem. In acute episodes immediate treatment may be necessary to prevent significant morbidity and mortality. Evaluation of affected patients necessitates an understanding of basic muscle pathophysiology and of the variety of disturbances that can interfere with muscle energy metabolism. The physician must then pursue a systematic stepwise evaluation (Table 6) that includes obtaining relevant history and laboratory studies, as well as arranging for appropriate provocative testing and muscle biopsy. Once the diagnosis is established, patient and family counseling is necessary, particularly in genetic disorders. Unfortunately, specific therapies have not proven entirely successful, and treatment generally has been directed at reducing the severity of rhabdomyolytic episodes.