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BioMed Central, Orphanet Journal of Rare Diseases, 1(10), 2015

DOI: 10.1186/s13023-015-0264-3

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Rhabdomyolysis: a genetic perspective

Journal article published in 2015 by Renata Siciliani Scalco, Alice R. Gardiner, Alice G. Gardiner, Robert Ds Pitceathly, Edmar Zanoteli, Jefferson Becker, Janice L. Holton, Henry Houlden, Heinz Jungbluth, Ros Quinlivan
This paper is made freely available by the publisher.
This paper is made freely available by the publisher.

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Abstract

Rhabdomyolysis (RM) is a clinical emergency characterized by fulminant skeletal muscle damage and release of intracellular muscle components into the blood stream leading to myoglobinuria and, in severe cases, acute renal failure. Apart from trauma, a wide range of causes have been reported including drug abuse and infections. Underlying genetic disorders are also a cause of RM and can often pose a diagnostic challenge, considering their marked heterogeneity and comparative rarity.