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Rhabdomyolysis: a genetic perspective

Renata Siciliani Scalco1,2,3, Alice R Gardiner4, Robert Ds Pitceathly5,6

  • 1MRC 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.

Orphanet Journal of Rare Diseases
|May 2, 2015
PubMed

Insights

Rhabdomyolysis (RM) is a medical emergency from muscle damage. This review highlights rare genetic defects causing RM, aiding diagnosis of hereditary conditions.

Area of Science:

  • Biochemistry
  • Genetics
  • Nephrology

Background:

  • Rhabdomyolysis (RM) is a critical condition involving severe skeletal muscle damage and release of myoglobin into the bloodstream.
  • While trauma, infections, and drug abuse are common causes, rare genetic disorders also contribute significantly to RM.
  • Diagnosing hereditary causes of RM presents challenges due to their heterogeneity and rarity.

Purpose of the Study:

  • To review rare genetic defects associated with Rhabdomyolysis (RM).
  • To detail the clinical phenotype, RM triggers, and diagnostic approaches for each genetic defect.
  • To assist clinicians in diagnosing patients with hereditary recurrent RM by highlighting key features of specific genetic causes.

Main Methods:

  • Literature review of rare genetic defects linked to Rhabdomyolysis (RM).
  • Analysis of clinical presentation, common triggers, and diagnostic strategies for each identified genetic disorder.
  • Synthesis of information to provide a diagnostic aid for hereditary RM.

Main Results:

  • Identified a range of rare genetic defects as causes of Rhabdomyolysis (RM).
  • Characterized the specific clinical phenotypes and typical RM triggers for each genetic defect.
  • Outlined recommended diagnostic pathways for patients with suspected hereditary RM.

Conclusions:

  • Rare genetic disorders are an important, albeit often overlooked, cause of Rhabdomyolysis (RM).
  • Understanding the specific features of these genetic defects is crucial for accurate and timely diagnosis.
  • This review provides a valuable resource for diagnosing hereditary causes of recurrent Rhabdomyolysis (RM).

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