Ontology highlight
ABSTRACT:
SUBMITTER: Palma JA
PROVIDER: S-EPMC4596763 | biostudies-literature | 2015 Nov
REPOSITORIES: biostudies-literature
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]