Charcot-Marie-Tooth病的诊治

Progress of the diagnosis and treatment of Charcot-Marie-Tooth disease

Charcot-Marie-Tooth病(CMT)是最常见的一种遗传性周围神经病,是一组具有显著临床异质性和遗传异质性的疾病,主要表现为肢体远端肌肉进行性无力和萎缩,伴有轻到中度感觉减退,腱反射减弱和足部畸形等.近20年CMT致病基因的不断被克隆,其疾病分型、临床表型和基因表型的关系发生了巨大变化.本文主要阐述CMT的疾病分型演变、基因诊断策略、临床治疗进展.

Charcot-Marie-Tooth disease(CMT) is the most common inherited neuropathy with great clinical heterogeneity and genetic heterogeneity.The clinical features include distal limb muscle weakness and atrophy,mild or moderate hypoesthesia,tendon hyporeflexia and foot deformity.With the increasing number of causative genes in association with CMT,the disease classification,the relationship between the clinical phenotype and genotype has undergone great changes.This review mainly focuses on the progression of classification,genetic test strategies,and therapeutic development of CMT.