Rhabdomyolysis: a genetic perspective.
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.In this paper we review the range of rare genetic defects known to be associated with RM. Each gene has been reviewed for the following: clinical phenotype, typical triggers for RM and recommended diagnostic approach. The purpose of this review is to highlight the most important features associated with specific genetic defects in order to aid the diagnosis of patients presenting with hereditary causes of recurrent RM.
MRC Centre for Neuromuscular Diseases and Department of Molecular Neuroscience, University College London (UCL) Institute of Neurology and National Hospital for Neurology and Neurosurgery, London, UK. renata_scalco@hotmail.com.|Department of Neurology, HSL, Pontifícia Universidade Católica do Rio Grande do Sul (PUCRS), Porto Alegre, Rio Grande do Sul, Brazil. renata_scalco@hotmail.com.|CAPES Foundation, Ministry of Education of Brazil, Brasilia, DF, Brazil. renata_scalco@hotmail.com.
Renata Siciliani
RS
Scalco
MRC Centre for Neuromuscular Diseases and Department of Molecular Neuroscience, University College London (UCL) Institute of Neurology and National Hospital for Neurology and Neurosurgery, London, UK. alice.gardiner.10@ucl.ac.uk.
Alice R
AR
Gardiner
MRC Centre for Neuromuscular Diseases and Department of Molecular Neuroscience, University College London (UCL) Institute of Neurology and National Hospital for Neurology and Neurosurgery, London, UK. r.pitceathly@ucl.ac.uk.|Department of Basic and Clinical Neuroscience, Institute of Psychiatry, Psychology and Neuroscience, King's College London (KCL), London, UK. r.pitceathly@ucl.ac.uk.
Robert Ds
RD
Pitceathly
Department of Neurology, School of Medicine, Universidade de São Paulo (FMUSP), São Paulo, SP, Brazil. zanoteli@terra.com.br.
Edmar
E
Zanoteli
Department of Neurology, HSL, Pontifícia Universidade Católica do Rio Grande do Sul (PUCRS), Porto Alegre, Rio Grande do Sul, Brazil. jeffersonbecker@hotmail.com.
Jefferson
J
Becker
MRC Centre for Neuromuscular Diseases and Department of Molecular Neuroscience, University College London (UCL) Institute of Neurology and National Hospital for Neurology and Neurosurgery, London, UK. Janice.holton@ucl.ac.uk.
Janice L
JL
Holton
MRC Centre for Neuromuscular Diseases and Department of Molecular Neuroscience, University College London (UCL) Institute of Neurology and National Hospital for Neurology and Neurosurgery, London, UK. h.houlden@ucl.ac.uk.
Henry
H
Houlden
Department of Basic and Clinical Neuroscience, Institute of Psychiatry, Psychology and Neuroscience, King's College London (KCL), London, UK. heinz.jungbluth@gstt.nhs.uk.|Department of Paediatric Neurology, Evelina Children's Hospital, Guy's & St Thomas NHS Foundation Trust, London, UK. heinz.jungbluth@gstt.nhs.uk.|Randall Division for Cell and Molecular Biophysics, Muscle Signalling Section, King's College London, London, UK. heinz.jungbluth@gstt.nhs.uk.
Heinz
H
Jungbluth
MRC Centre for Neuromuscular Diseases and Department of Molecular Neuroscience, University College London (UCL) Institute of Neurology and National Hospital for Neurology and Neurosurgery, London, UK. r.quinlivan@ucl.ac.uk.|Dubowitz Neuromuscular Centre, Great Ormond Street Hospital, London, UK. r.quinlivan@ucl.ac.uk.
Ros
R
Quinlivan
D020022:Genetic Predisposition to Disease; D006801:Humans; D010641:Phenotype; D012206:Rhabdomyolysis / Q000201:enzymology / Q000235:genetics* / Q000378:metabolism / Q000503:physiopathology