Limits...
Rhabdomyolysis: a genetic perspective.

Scalco RS, Gardiner AR, Pitceathly RD, Zanoteli E, Becker J, Holton JL, Houlden H, Jungbluth H, Quinlivan R - Orphanet J Rare Dis (2015)

Bottom Line: Apart from trauma, a wide range of causes have been reported including drug abuse and infections.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.

View Article: PubMed Central - PubMed

Affiliation: 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.

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.

No MeSH data available.


Related in: MedlinePlus

Muscle biopsy patterns associated with hereditary causes of RM. Muscle biopsy features may provide a guide to targeted genetic testing.
© Copyright Policy - open-access
Related In: Results  -  Collection

License 1 - License 2
getmorefigures.php?uid=PMC4522153&req=5

Fig3: Muscle biopsy patterns associated with hereditary causes of RM. Muscle biopsy features may provide a guide to targeted genetic testing.

Mentions: Identifying underlying genetic disorders presenting with RM can pose a diagnostic challenge due to their rarity and marked heterogeneity, requiring a high degree of clinical suspicion for appropriate investigation to be requested. Although difficult, establishing a genetic diagnosis in a patient presenting with RM is of great clinical importance to give appropriate advice and to prevent future episodes. More recently Zutt et al. (2014) suggested an algorithm for the clinical diagnostic approach to recurrent RM [2] whereas the present review will focus on the approach to a specific genetic diagnosis. Here we review the genetic defects known to be associated with RM, many of them are rare and very rare (summarized in Table 1). The purpose of this review is to highlight the most important features in order to aid the genetic diagnosis of patients with unexplained, in particular recurrent RM episodes (Figures 2 and 3).Table 1


Rhabdomyolysis: a genetic perspective.

Scalco RS, Gardiner AR, Pitceathly RD, Zanoteli E, Becker J, Holton JL, Houlden H, Jungbluth H, Quinlivan R - Orphanet J Rare Dis (2015)

Muscle biopsy patterns associated with hereditary causes of RM. Muscle biopsy features may provide a guide to targeted genetic testing.
© Copyright Policy - open-access
Related In: Results  -  Collection

License 1 - License 2
Show All Figures
getmorefigures.php?uid=PMC4522153&req=5

Fig3: Muscle biopsy patterns associated with hereditary causes of RM. Muscle biopsy features may provide a guide to targeted genetic testing.
Mentions: Identifying underlying genetic disorders presenting with RM can pose a diagnostic challenge due to their rarity and marked heterogeneity, requiring a high degree of clinical suspicion for appropriate investigation to be requested. Although difficult, establishing a genetic diagnosis in a patient presenting with RM is of great clinical importance to give appropriate advice and to prevent future episodes. More recently Zutt et al. (2014) suggested an algorithm for the clinical diagnostic approach to recurrent RM [2] whereas the present review will focus on the approach to a specific genetic diagnosis. Here we review the genetic defects known to be associated with RM, many of them are rare and very rare (summarized in Table 1). The purpose of this review is to highlight the most important features in order to aid the genetic diagnosis of patients with unexplained, in particular recurrent RM episodes (Figures 2 and 3).Table 1

Bottom Line: Apart from trauma, a wide range of causes have been reported including drug abuse and infections.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.

View Article: PubMed Central - PubMed

Affiliation: 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.

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.

No MeSH data available.


Related in: MedlinePlus