Increased frequency of rhabdomyolysis in familial dysautonomia.

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

SUBMITTER: Palma JA 

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

REPOSITORIES: biostudies-literature