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Increased frequency of rhabdomyolysis in familial dysautonomia.

ABSTRACT: 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.This study was a retrospective chart review of 665 FD patients.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.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.

SUBMITTER: Palma JA

PROVIDER: S-EPMC4596763 | biostudies-literature | 2015 Nov

REPOSITORIES: biostudies-literature

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Increased frequency of rhabdomyolysis in familial dysautonomia.

Palma Jose-Alberto JA Roda Ricardo R Norcliffe-Kaufmann Lucy L Kaufmann Horacio H

Muscle & nerve 20150813 5

<h4>Introduction</h4>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.<h4>Methods</h4>This study was a retrospective chart review of 665 FD patients.<h4>Results</h4>Eight patients had at least 1 episode of rhabdomyolysis. Two pati ...[more]

PMID: 26202308

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