摘要
腓骨肌萎缩症（Charcot—Marie—Tooth disease，CMT）是一组最常见的具有高度临床和遗传异质性的周围神经单基因遗传病，目前已有28个疾病基因被克隆。主要临床症状包括进行性对称性肢体远端肌无力和肌萎缩，感觉障碍和腱反射减退或消失。根据电生理和病理特点，CMT可分为脱髓鞘型和轴突型。通过临床表现、电生理病理特点进行临床和遗传学分型，选择可能的疾病基因进行突变分析等一系列具有逻辑性的诊断流程，可明确分子诊断，为疾病预后和遗传咨询提供指导性意见。
Charcot-Marie-Tooth disease （CMT） is the most common form of hereditary neuropathy with significant clinical and genetic heterogeneity. So far 28 genes have been cloned. The main clinical manifestations of CMT include progressive distal muscle wasting and weakness, impaired distal sensation, and diminishing or loss of tendon reflex. Patients may be classified into demyelinating type （CMT1） and axonal type （CMT2） according to electrophysiological and pathological characteristics. Establishment of a standard diagnostic procedure based on clinical, electrophysiological and pathological findings will enable accurate diagnosis in most CMT patients and provide guidance for gene consulting and prognosis.
出处
《中华医学遗传学杂志》
CAS
CSCD
北大核心
2012年第5期553-557,共5页
Chinese Journal of Medical Genetics
基金
国家自然科学基金（81071001
30600200）
关键词
腓骨肌萎缩症
CMT基因
CMT分型
分子诊断
Charcot-Marie-Tooth disease
CMT gene
CMT classification
Molecular diagnosis
