中华医学遗传学杂志
中華醫學遺傳學雜誌
중화의학유전학잡지
CHINESE JOURNAL OF MEDICAL GENETICS
2012年
5期
553-557
,共5页
腓骨肌萎缩症%CMT基因%CMT分型%分子诊断
腓骨肌萎縮癥%CMT基因%CMT分型%分子診斷
비골기위축증%CMT기인%CMT분형%분자진단
Charcot-Marie-Tooth disease%CMT gene%CMT classification%Molecular diagnosis
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.
腓骨肌萎縮癥(Charcot-Marie-Tooth disease,CMT)是一組最常見的具有高度臨床和遺傳異質性的週圍神經單基因遺傳病,目前已有28箇疾病基因被剋隆.主要臨床癥狀包括進行性對稱性肢體遠耑肌無力和肌萎縮,感覺障礙和腱反射減退或消失.根據電生理和病理特點,CMT可分為脫髓鞘型和軸突型.通過臨床錶現、電生理病理特點進行臨床和遺傳學分型,選擇可能的疾病基因進行突變分析等一繫列具有邏輯性的診斷流程,可明確分子診斷,為疾病預後和遺傳咨詢提供指導性意見.
비골기위축증(Charcot-Marie-Tooth disease,CMT)시일조최상견적구유고도림상화유전이질성적주위신경단기인유전병,목전이유28개질병기인피극륭.주요림상증상포괄진행성대칭성지체원단기무력화기위축,감각장애화건반사감퇴혹소실.근거전생리화병리특점,CMT가분위탈수초형화축돌형.통과림상표현、전생리병리특점진행림상화유전학분형,선택가능적질병기인진행돌변분석등일계렬구유라집성적진단류정,가명학분자진단,위질병예후화유전자순제공지도성의견.
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.
