摘要
脊髓性肌萎缩症是婴幼儿期最常见的致死性神经遗传性疾病,临床表现为肢体近端进行性、对称性肌无力和肌萎缩。根据发病年龄可以分为儿童型和成人型,尤以儿童型脊髓性肌萎缩症发病率最高。本文总结近年儿童型脊髓性肌萎缩症的治疗研究进展,旨在为疾病治疗提供新的思路。
Spinal muscular atrophy（SMA） is the most common fatal neurogenetic disease in infantperiod. Clinical manifestations of SMA include symmetrical and progressive weakness and atrophy ofproximal limbs. Based on age of incidence, it is divided into child-onset SMA and adult-onset SMA. Child-onset SMA has the highest incidence rate. This article summarizes the research progress of SMA therapy inrecent years to provide new thoughts for the treatment of SMA.
作者
赵淼
陆瑛倩
王柠
陈万金
ZHAO Miao;LU Ying-qian;WANG Ning;CHEN Wan-jin(Department of Neurology, the First Affiliated Hospital of Fujian Medical University, Fuzhou 350005, Fujian, Chin)
出处
《中国现代神经疾病杂志》
CAS
北大核心
2018年第4期284-289,共6页
Chinese Journal of Contemporary Neurology and Neurosurgery
基金
国家自然科学基金资助项目(项目编号:U1505222)
国家自然科学基金资助项目(项目编号:81371261)
福建省临床重点专科建设项目
神经内科国家临床重点专科建设项目~~
关键词
脊髓性肌萎缩
儿童
基因
综述
Spinal muscular atrophies of childhood
Genes
Review
