Progress in diagnosis and treatment of congenital myasthenic syndromes / 中华实用儿科临床杂志
Chinese Journal of Applied Clinical Pediatrics
; (24): 876-880, 2021.
Article
em Zh
| WPRIM
| ID: wpr-907865
Biblioteca responsável:
WPRO
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.
Texto completo:
1
Índice:
WPRIM
Idioma:
Zh
Revista:
Chinese Journal of Applied Clinical Pediatrics
Ano de publicação:
2021
Tipo de documento:
Article