title: Increased frequency of rhabdomyolysis in familial dysautonomia.
abstract: BACKGROUND
  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.
authors.affiliation: Dysautonomia Center, Department of Neurology, New York University School of Medicine, 530 First Avenue, Suite 9Q, New York, New York, 10016, USA.
authors.forename: Jose-Alberto
authors.initials: JA
authors.lastname: Palma
authors.affiliation: Neuromuscular Division, Department of Neurology, New York University School of Medicine, New York, New York, USA.
authors.forename: Ricardo
authors.initials: R
authors.lastname: Roda
authors.affiliation: Dysautonomia Center, Department of Neurology, New York University School of Medicine, 530 First Avenue, Suite 9Q, New York, New York, 10016, USA.
authors.forename: Lucy
authors.initials: L
authors.lastname: Norcliffe-Kaufmann
authors.affiliation: Dysautonomia Center, Department of Neurology, New York University School of Medicine, 530 First Avenue, Suite 9Q, New York, New York, 10016, USA.
authors.forename: Horacio
authors.initials: H
authors.lastname: Kaufmann
mesh_terms: D000293:Adolescent; D002648:Child; D004402:Dysautonomia, Familial / Q000150:complications* / Q000175:diagnosis*; D005260:Female; D005500:Follow-Up Studies; D006801:Humans; D008297:Male; D012189:Retrospective Studies; D012206:Rhabdomyolysis / Q000150:complications* / Q000175:diagnosis*; D055815:Young Adult
keywords: autonomic disorders; creatine kinase; hereditary sensory autonomic neuropathy; mitochondria; skeletal muscle