Analysis of the clinical, electrophysiological and genetic features of a family affected with hereditary neuropathy with liability to pressure palsies.
- VernacularTitle:遗传性压力易感性周围神经病的临床、神经电生理和基因特点分析
- Author:
Faying QI
1
;
Fengyuan CHE
Author Information
- Publication Type:Journal Article
- MeSH: Adult; Arthrogryposis; genetics; physiopathology; Hereditary Sensory and Motor Neuropathy; genetics; physiopathology; Humans; Male; Myelin Proteins; genetics; Neural Conduction
- From: Chinese Journal of Medical Genetics 2015;32(1):31-35
- CountryChina
- Language:Chinese
-
Abstract:
OBJECTIVETo delineate the clinical, electrophysiological and genetics features of a family where 4 members were affected with hereditary neuropathy with liability to pressure palsies (HNPP).
METHODSClinical features of the 4 patients were summarized. Electrophysiological examination and genetic analysis were carried out.
RESULTSAll of the patients showed recurrent motor and sensory disturbances after minor traction or constriction. Electrophysiology study revealed that the prolonged latency and reduced conduction velocity of peripheral nerve were general and with multiple sites of affection. The nerve locations liable to entrapment showed conduction block. A deletion mutation of peripheral myelin protein 22 (PMP22) gene was identified by genetic analysis.
CONCLUSIONHNPP usually affects areas where nerves are liable to entrapment, and presents with motor and sensory disturbances of the innervated areas. Electrophysiological study reveals general nervous demyelination. Genetic analysis can clarify the diagnosis of HNPP.
