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Increased frequency of rhabdomyolysis in familial dysautonomia

Jose-Alberto Palma1, Ricardo Roda2, Lucy Norcliffe-Kaufmann1

  • 1Dysautonomia Center, Department of Neurology, New York University School of Medicine, 530 First Avenue, Suite 9Q, New York, New York, 10016, USA.

Muscle & Nerve
|July 24, 2015
PubMed
Abstract

Insights

Patients with Familial Dysautonomia (FD) experience a higher incidence of rhabdomyolysis compared to the general population. This muscle-damaging condition may be linked to absent muscle spindles and mitochondrial issues in FD patients.

Area of Science:

  • Neurology
  • Genetics
  • Rare Diseases

Background:

  • Familial Dysautonomia (FD) is an autosomal recessive disorder affecting nerve function.
  • FD is characterized by impaired pain/temperature sensation and absent muscle spindles.
  • Recent observations prompted an investigation into rhabdomyolysis frequency in FD patients.

Purpose of the Study:

  • To determine the incidence of rhabdomyolysis in individuals with Familial Dysautonomia.
  • To compare rhabdomyolysis rates in FD patients with known incidences in other populations.

Main Methods:

  • Retrospective chart review of 665 patients diagnosed with Familial Dysautonomia.
  • Analysis of patient records for documented episodes of rhabdomyolysis.
  • Calculation of rhabdomyolysis incidence per person-years.

Main Results:

  • Eight FD patients experienced at least one episode of rhabdomyolysis; two had multiple episodes.
  • The incidence of rhabdomyolysis in FD patients was 7.5 per 10,000 person-years.
  • Elevated creatine kinase (CK) levels and gluteal hyperintensities on MRI were observed in affected patients.

Conclusions:

  • Familial Dysautonomia patients exhibit an elevated incidence of rhabdomyolysis.
  • The study hypothesizes that absent muscle spindles and mitochondrial abnormalities contribute to rhabdomyolysis in FD.
  • This finding highlights a significant complication associated with Familial Dysautonomia.
Keywords:
autonomic disorderscreatine kinasehereditary sensory autonomic neuropathymitochondriaskeletal muscle

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