腓骨肌萎缩症家系临床特点  

Clinical features of 6 pedigrees with Charcot-Marie-Tooth disease

作　　者：牛琦[1] 张炳峰[2] 金庆文[1] 唐金荣[1] 丁新生[1] 万琪[1] 侯作琼[3] 

机构地区：[1]南京医科大学第一附属医院神经内科,210029 [2]南京医科大学第一附属医院检验科,210029 [3]南京医科大学第一附属医院整形烧伤科,210029

出　　处：《江苏医药》2010年第16期1865-1866,共2页Jiangsu Medical Journal

基　　金：江苏省自然科学基金项目(BK2007607)

摘　　要：目的报道6个腓骨肌萎缩症家系的临床特点。方法 6个腓骨肌萎缩症家系中成员进行临床体检、血液学检查和神经电生理测试,部分患者进行肌肉和神经病理检查。结果 4个家系为常染色显性遗传,1个不明确。1个为X连锁遗传。按神经传导速度分4个家系为Ⅰ型,2个为Ⅱ型。每个患者均有典型的双下肢远端肌肉萎缩,弓形足,部分患者出现双上肢远端的肌肉萎缩及四肢远端的浅感觉障碍。每个家系中患者的临床表现类似,不同家系之间有差异。结论腓骨肌萎缩症是一种常见的神经系统遗传病,常染色体显性遗传较常见,遗传异质性高,需依赖临床及基因诊断。Objective To analyze the clinical features of 6 families with Charcot-Marie-Tooth disease（CMT）.Methods Blood,electrophysiology and physical examinations were studied for every member.Electromyogram and muscle or nerve biopsy were analyzed in some of them.Results Five families were inherited in an autosomal-dominant mode,one in X-linked.According to median nerve conduction velocity,4 families belonged to patternⅠ,2 families belonged to pattern Ⅱ.Every patient presented distal muscle atropy,wasting of both lower extreameties and pescavus.Some patients presented distal muscle atropy,wasting of both upper limbs and hypalgesia in distal limbs.The clinical features and courses were similiar in the same family,but different among different families.ConclusionCMT is a kind of common hereditary desease in peripheral nerve system.CMT has prominent heterogeneity.Clinical investigation and gene analysis are essential for the diagnosis.

关 键 词：腓骨肌萎缩症 肌电图 

分 类 号：R745[医药卫生—神经病学与精神病学]