Rhabdomyolysis: A genetic perspective

Renata Siciliani Scalco; Alice R Gardiner; Robert Ds Pitceathly; Edmar Zanoteli; Jefferson Becker; Janice L Holton; Henry Houlden; Heinz Jungbluth; Ros Quinlivan

doi:10.1186/s13023-015-0264-3

Rhabdomyolysis: A genetic perspective

Renata Siciliani Scalco^*, Alice R Gardiner, Robert Ds Pitceathly, Edmar Zanoteli, Jefferson Becker, Janice L Holton, Henry Houlden, Heinz Jungbluth, Ros Quinlivan

^*Corresponding author for this work

Basic and Clinical Neuroscience

Research output: Contribution to journal › Article › peer-review

110 Citations (Scopus)

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. 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.

Original language	English
Article number	51
Journal	Orphanet Journal of Rare Diseases
Volume	10
Issue number	1
DOIs	https://doi.org/10.1186/s13023-015-0264-3
Publication status	Published - 2 May 2015

Keywords

Diagnosis
Gene
Genetic
Increased CK
Muscle Biopsy
Muscle metabolism
Myoglobinuria
Neuromuscular disorders
Pathology
Phenotype
Polymorphism
Rhabdomyolysis
Triggers

UN SDGs

This output contributes to the following UN Sustainable Development Goals (SDGs)

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10.1186/s13023-015-0264-3

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title = "Rhabdomyolysis: A genetic perspective",

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. 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.",

keywords = "Diagnosis, Gene, Genetic, Increased CK, Muscle Biopsy, Muscle metabolism, Myoglobinuria, Neuromuscular disorders, Pathology, Phenotype, Polymorphism, Rhabdomyolysis, Triggers",

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AU - Scalco, Renata Siciliani

AU - Gardiner, Alice R

AU - Pitceathly, Robert Ds

AU - Zanoteli, Edmar

AU - Becker, Jefferson

AU - Holton, Janice L

AU - Houlden, Henry

AU - Jungbluth, Heinz

AU - Quinlivan, Ros

PY - 2015/5/2

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N2 - 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.

AB - 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.

KW - Diagnosis

KW - Gene

KW - Genetic

KW - Increased CK

KW - Muscle Biopsy

KW - Muscle metabolism

KW - Myoglobinuria

KW - Neuromuscular disorders

KW - Pathology

KW - Phenotype

KW - Polymorphism

KW - Rhabdomyolysis

KW - Triggers

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JO - Orphanet Journal of Rare Diseases

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ER -

Rhabdomyolysis: A genetic perspective

Abstract

Keywords

UN SDGs

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