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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 report the clinical features of 6 families of Charcot-Marie-Tooth disease. Methods Six members of the pedigree of Charcot-Marie-Tooth disease were tested in clinical examination, hematology examination and electrophysiological examination. Some patients had muscle and neuropathological examination. Results Four families were autosomal dominant, one indefinite. One for the X chain inheritance. According to the nerve conduction velocity, four pedigrees were type Ⅰ and two were type Ⅱ. Each patient has a typical distal lower extremity muscular atrophy, arch foot, some patients appear distal upper limb muscle atrophy and limbs distal shallow sensory disturbance. The clinical manifestations of patients in each pedigree are similar, with differences between different pedigrees. Conclusion Charcot-MAM is a common genetic disease of the nervous system. Autosomal dominant inheritance is common and has high genetic heterogeneity. Clinical and genetic diagnosis is needed.