Dataset Information
Increased frequency of rhabdomyolysis in familial dysautonomia.
Ontology highlight
ABSTRACT: 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.
SUBMITTER: Palma JA
PROVIDER: S-EPMC4596763 | biostudies-literature | 2015 Nov
REPOSITORIES: biostudies-literature
Publications
Increased frequency of rhabdomyolysis in familial dysautonomia.
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]