Progress in diagnosis and treatment of congenital myasthenic syndromes
10.3760/cma.j.cn101070-20201105-01723
- VernacularTitle:先天性肌无力综合征诊治进展
- Author:
Zhimei LIU
1
;
Xinming SHEN
;
Fang FANG
Author Information
1. 国家儿童医学中心，首都医科大学附属北京儿童医院神经内科，北京 100045
- Keywords:
Congenital myasthenic syndromes;
Neuromuscular transmission;
Muscle weakness;
Diagnosis;
Treatment
- From:
Chinese Journal of Applied Clinical Pediatrics
2021;36(11):876-880
- CountryChina
- Language:Chinese
-
Abstract:
Characterized by impaired neuromuscular transmission, congenital myasthenic syndromes (CMS) are a group of genetic disorders.The main manifestations include fatigue and weakness of skeletal muscle, with most onset in infant or early childhood.The common cause of death is respiratory failure, with high disability rate.With the improvement of gene sequencing technology and the in-depth study on the structure and function of pathogenic proteins, the pathogenesis of the disease has been deeply understood in the past 20 years.Early diagnosis and treatment can significantly improve the symptoms in patients.In this manuscript, the etiology, clinical characteristics, diagnosis and treatment of CMS are reviewed.
