Increased frequency of rhabdomyolysis in familial dysautonomia

Jose Alberto Palma, Ricardo Roda, Lucy Norcliffe-kaufmann, Horacio Kaufmann

Research output: Contribution to journalArticlepeer-review


Introduction:Familial dysautonomia (FD; OMIM # 223900) is an autosomal recessive disease with features of impaired pain and temperature perception and lack of functional muscle spindles. After 3 FD patients presented with rhabdomyolysis in a short time span, we aimed to determine the frequency of rhabdomyolysis is this population. Methods: This study was a retrospective chart review of 665 FD patients. Results: Eight patients had at least 1 episode of rhabdomyolysis. Two patients had 2 episodes. The average incidence of rhabdomyolysis in FD was 7.5 per 10,000 person-years. By comparison, the average incidence with statins has been reported to be 0.44 per 10,000 person-years. Mean maximum creatine kinase (CK) level was 32,714±64,749 U/L. Three patients had hip magnetic resonance imaging showing gluteal hyperintensities. Conclusions: Patients with FD have an increased incidence of rhabdomyolysis. We hypothesize that this may result from a combination of absent functional muscle spindles and muscle mitochondrial abnormalities.

Original languageEnglish (US)
Pages (from-to)887-890
Number of pages4
JournalMuscle and Nerve
Issue number5
StatePublished - Nov 2015
Externally publishedYes


  • Autonomic disorders
  • Creatine kinase
  • Hereditary sensory autonomic neuropathy
  • Mitochondria
  • Skeletal muscle

ASJC Scopus subject areas

  • Physiology
  • Clinical Neurology
  • Cellular and Molecular Neuroscience
  • Physiology (medical)


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