先天性肌无力综合征

Congenital Myasthenic Syndrome

先天性肌无力综合征(CMS)是一组以神经肌肉接头信号传递功能障碍为主要特征的可部分治疗的罕见遗传性疾病。近年来,随着高通量测序的普及及对疾病认识的深入,已发现30余种CMS致病基因,且基因型与临床表型之间存在一定关联。CMS在临床上易误诊和漏诊,为了加强临床工作者对该类疾病的认识,本文对CMS主要亚型的分子机制、临床特征、电生理检测、病理特征及治疗予以归纳并总结。

Congenital Myasthenic syndrome(CMS)is a group of partially treatable genetic disorders characterized by dysfunction of neuromuscular junction signaling.With the popularization of high-throughput sequencing and in-depth understanding of the disease in recent years,more than thirty pathogenic genes have been discovered and there is a correlation between genotype and clinical phenotype.Misdiagnosis and missed diagnosis are common in clinical practice.This paper summarized the molecular mechanisms,clinical features,electrophysiologic,pathological features and treatment of main subtypes of CMS to deepen the understanding of the disease.