先天性肌无力综合征  

Congenital myasthenic syndrome

作　　者：李杨 石强[1] Li Yang;Shi Qiang(Department of Neurology,the First Medical Center of Chinese People's Liberation Army General Hospital,Beijing 100853,China)

机构地区：[1]解放军总医院第一医学中心神经内科,北京100853

出　　处：《中华神经科杂志》2025年第2期197-203,共7页Chinese Journal of Neurology

摘　　要：先天性肌无力综合征(CMS)是由神经肌肉接头分子表达缺陷引起,以神经肌肉信号传导缺陷为特征的罕见遗传性疾病。CMS可出现在任何年龄,因症状缺乏特异性,可能被误诊或漏诊,肌电图有助于诊断。已发现30余种致病基因与本病相关,具体的基因类型可能会影响治疗方案的选择。文中通过回顾新近文献,总结了CMS的临床特征、辅助检查、诊断及治疗。Congenital myasthenic syndrome(CMS)is a rare inherited neuromuscular disease caused by defects in molecules expressed at the neuromuscular junction and characterized by defective neuromuscular signal transduction.CMs can present at any age and may be misdiagnosed or undiagnosed due to the nonspecific nature of symptoms at presentation.Electromyography is helpful for diagnosis.More than 30 causative genes have been found to contribute to the disorder.The identification of specific genetic type may influence the choice of treatment options available.In this article,the clinical manifestation,auxiliary examination,diagnosis,and treatment of CMS are summarized by reviewing the latest literatures.

关 键 词：先天性肌无力综合征 基因 神经肌肉接头 

分 类 号：R746[医药卫生—神经病学与精神病学]