先天性肌无力综合征的诊治进展

Advances in the diagnosis and treatment of congenital myasthenic syndrome

摘要:

先天性肌无力综合征（CMS）是由于基因缺陷导致神经肌肉传导受损所引起的一组临床和遗传异质性疾病。目前，已报道可导致CMS的致病基因达30余个。所有CMS亚型都具有易疲劳和肌无力的临床特征，但发病年龄、症状和治疗反应因潜在遗传缺陷的分子机制而异。现CMS患者的治疗常采用药物治疗和对症支持治疗等方法，在动物中，反义寡核苷酸技术已被证明对CHRNA1相关的CMS是有益的。CMS作为一组日益被认可的临床和遗传异质性疾病，揭示其临床特点、基因研究和治疗等方面的最新知识和最新进展，不仅有助于对该病进行早期诊断与治疗，还将有助于对CMS发病机制的进一步深入了解，从而有望在CMS的治疗上取得新的突破。

Abstract:

Congenital myasthenic syndrome (CMS) is a group of clinical and genetic heterogeneous diseases caused by impaired neuromuscular transmission due to genetic defects. At present, it has been reported that more than 30 genes can cause CMS. All CMS subtypes have the clinical features of fatigue and muscle weakness, but age of onset, symptoms, and treatment response vary with the molecular mechanisms underlying genetic defects. Pharmacotherapy and symptomatic/supportive treatment are the main methods for the treatment of CMS, and antisense oligonucleotide technology has been proven to be beneficial for CHRNA 1-related CMS in animals. Since CMS is a group of increasingly recognized clinical and genetic heterogeneous diseases, an understanding of the latest knowledge and research advances in its clinical features, genetic research, and treatment helps to give early diagnosis and treatment as well as gain a deeper understanding of the pathogenesis of CMS, so as to make new breakthroughs in the treatment of CMS.