Increased frequency of rhabdomyolysis in familial dysautonomia |
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| Authors: | Jose‐alberto Palma MD PhD Ricardo Roda MD Lucy Norcliffe‐kaufmann PhD Horacio Kaufmann MD |
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| Affiliation: | 1. Dysautonomia Center, Department of Neurology, New York University School of Medicine, New York, New York, USA;2. Neuromuscular Division, Department of Neurology, New York University School of Medicine, New York, New York, USA |
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| 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. Muscle Nerve, 2015 |
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| Keywords: | autonomic disorders creatine kinase hereditary sensory autonomic neuropathy mitochondria skeletal muscle |
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