摘要
腓骨肌萎缩症(CMT)是一种遗传性周围神经病,运动及感觉神经均可受累,临床上典型病例主要表现为下肢远端的肌无力、肌萎缩,但该病多隐匿起病、缓慢进展,且临床表现存在显著的异质性。本文回顾性分析1例无明显家族史,病情进展30余年,经基因检测证实为缝隙连接蛋白B1基因(c.490C>T)突变的腓骨肌萎缩症(CMTX型)患者的电生理特征,探讨CMTX的临床特点并文献复习,以期为临床医师对CMT诊断及鉴别诊断提供参考。
Charcot-Marie-Tooth disease(CMT)is a hereditary peripheral neuropathy that can involve both motor and sensory nerves.Clinically,typical cases are mainly manifested as myasthenia and muscular atrophy in the distal lower extremities,but the disease is often occultly onset and slow progression,and the clinical manifestations are significantly heterogeneous.This paper retrospectively analyzed the electrophysiological characteristics of a case with peroneal muscular atrophy(CMTX type)who had no obvious family history and had progressed for more than 30 years.The mutation of connexin B1 gene(c.490C>T)was confirmed by gene detection.The clinical characteristics of CMTX were discussed and the literature was reviewed,so as to provide reference for clinicians in the diagnosis and differential diagnosis of CMT.
作者
杨茜
刘宏雨
Yang Qian;Liu Hongyu(Department of General Medicine,Hainan Modern Women and Children's Hospital,Haikou City,Hainan Province,570100,China;Department of Neuroelectrophysiology,Shijiazhuang People's Hospital,Shijiazhuang City,Hebei Province,050000,China)
出处
《现代电生理学杂志》
2023年第2期119-121,共3页
Journal of Modern Electrophysiology
关键词
腓骨肌萎缩症
周围神经系统疾病
电生理学
Charcot-Marie-Tooth disease
Peripheral nervous system diseases
Electrophysiology
