摘要：

腓骨肌萎缩症是临床最常见的具有高度临床和遗传异质性的周围神经系统单基因遗传病，目前已克隆出80 余种致病基因。通常于儿童期或青少年期发病，临床主要表现为慢性进行性四肢远端肌无力和肌萎缩、感觉减退和腱反射消失，伴高弓足和脊柱侧弯等骨骼畸形。尽管目前尚无逆转病程的特异性治疗方法，但康复训练、外科矫形手术和药物治疗等对症支持治疗可以改善运动功能、提高生活质量。基于发病机制的治疗研究有望提供精准有效的靶向治疗。

 

关键词: 夏科-马里-图斯病, 康复, 矫形外科手术, 药物疗法, 综述

Abstract:

Charcot-Marie-Tooth disease (CMT) comprises a group of monogenic inherited peripheral neuropathies with highly clinical and genetic heterogeneity, more than 80 causative genes have been cloned at present. Usually starts in childhood or juvinile period, the main clinical manifestations include progressive length.dependent muscle weakness and atrophy, sensory loss, areflexia and pes cavus. Although there is no specific treatment to reverse the natural disease course of CMT, symptomatic treatments such as rehabilitation, orthopedic surgery and medication can improve the overall fitness and life quality of CMT patients. Targeted treatments based on pathogenesis study is expected to provide precise therapy for CMT patients. This paper aims to make a review of the clinical application of symptomatic treatments and progress of target therapy researches in different CMT subtypes.

Key words: Charcot - Marie - Tooth disease, Rehabilitation, Orthopedic procedures, Drug therapy, Review