关键词: 夏科-马里-图斯病, 电生理学, 基因, 临床特征

Abstract: ［Abstract］〓Objective〖HTSS〗〓To explore hereditary motor sensory neuropathy disease  type Ⅰa of neural electrophysiological and gene and clinical features.
〖HTH〗〖WTHZ〗Methods〖HTSS〗〓Ten patients with type Ⅰa of hereditary motor sensory neuropathy were selected, and their electrophysiological characteristics were analyzed. Electromyography was used to detect motion, sensory nerve conduction velocity and electromyography, and 6 of them were detected.
〖HTH〗〖WTHZ〗Results〖HTSS〗〓 In 10 cases, the sensory nerve did not lead to the reaction, 4 cases of lower extremity motor nerve did not lead to reaction, 6 cases of motor nerve conduction velocity decreased significantly, and the electromyographic map showed that the motor potential time limit was generally normal when the contraction was light contraction. 6 cases of gene detection suggested peripheral myelin protein 22 gene mutation.
〖HTH〗〖WTHZ〗Conclusion〖HTSS〗〓The electrophysiological detection of type Ⅰa patients with hereditary motor sensory neuropathy is neurogenic damage, motor nerve conduction velocity is slow, gene detection and nerve electromyography examination are helpful to the diagnosis of type Ⅰa of hereditary sensorineural neuropathy.

Key words: CharcotMarieTooth disease, electrophysiology, genes, clinical features