摘要
遺傳性運動感覺神經病變(Charcot-Marie-Tooth diseases; CMT; HMSN)是最常見的遺傳性周邊神經病變，其臨床症狀包括漸進性肢體遠端肌肉萎縮無力、腳掌形變、遠端感覺喪失及肌腱反應下降。CMT可進一步依電生理及病理檢查特徵、遺傳型式、發病的年齡及致病基因之不同來分類。在台灣最常見的是第一型CMT(CMT1)，也就是在兒童期或之後發病的體顯性遺傳脫髓鞘性神經病變。CMT1又可依致病基因的不同再進一步分爲五種亞型，其中CMT1A是最常見的亞型，是由於位於染色體17P11.2-12區域，包含Peripheral myelin protein 22基因(PMP22)的一段長約一百五十萬鹼塞對(1.5Mb)的DNA序列發生重複所造成的。目前在臨床上，CMT並沒有明顯有效的治療方法，但最近的研究發現維生素C和許旺細胞重要的生長調控因子NT-3 (Neurotrophin-3)可能對CMT1A的治療有幫助。早期正確的診斷CMT，可提供病患機會及早修飾生活型態，從而減少周邊神經的傷害，遲緩或避免殘障的發生，也能提供適當遺傳諮詢的依據，以及進一步相關研究的基礎。
並列摘要
Charcot-Marie-Tooth disease (CMT), also called hereditary motor and sensory neuropathy (HMSN), is the most common inherited peripheral neuropathy, comprised by a group of genetically heterogeneous disorders that share clinical characteristics of progressive distal muscle weakness and atrophy, foot deformities, distal sensory loss, and depressed tendon reflexes. It can be categorized according to its electrophysiological or pathological features, transmission patterns, age of disease onset, and molecular pathology. CMT type 1 (CMT1; MIM 118200) is a group of autosomal dominant-inherited demyelinating neuropathies with a disease onset at or after childhood. Five different subtypes have been identified based on different causative genes. Among them, CMT1A (MIM #118220) is most common and is usually associated with a duplication of a 1.5-Mb region on chromosome 17p11.2, which includes peripheral myelin protein 22 gene (PMP22; MIM *601097). Currently, there is no cure or obviously effective disease-modifying treatment for CMT. Two potential effective therapeutic agents for CMT1A were investigated recently. One is ascorbic acid and another is neurotrophin-3 (NT-3), an important component of the Schwann cell autocrine survival loop. Early diagnosis can facilitate CMT patients to modify their life styles timely for minimizing nerve injury to delay or avoid disability. Molecular diagnosis of CMT can provide the basis for appropriate genetic counseling and further CMT research.