摘要
儿童脊髓性肌萎缩症(SMA)是常见的致死性常染色体隐性遗传病,运动神经元存活基因1(SMN1)是其致病基因。结合其典型的临床表现、肌电图等辅助检查,尤其是基因分析,大多数患者能够确诊并分型,目前其可及性高的干预手段有限。疾病自然史是疾病临床研究的重要组成部分,其在临床表现描述及致病机制研究中的作用是基础性的。本文就SMA的疾病自然史研究加以详述,包括自然史概念与价值、SMA患者自然史资料、研究的作用等有关内容。SMA自然史研究能够为该病的临床诊断、治疗研究甚至预防提供有力的理论依据和有效的探索思路。
Spinal muscular atrophy(SMA)in children is a common fatal autosomal recessive genetic disease,and motor neuron survival gene 1(SMN1)is its pathogenic gene.Combined with its typical clinical manifestations,electromyography and other auxiliary examinations,especially gene analysis,most patients can be diagnosed and classified.Currently,the interventions with high accessibility are limited.The natural history of disease is an important part of the clinical study of disease,and its role in the description of clinical manifestations and pathogenesis is fundamental.This paper will elaborate on the natural history of SMA,including the concept and value of natural history,natural history data of SMA patients,and the role of the study.The study of natural history of SMA can provide a strong theoretical basis for the clinical diagnosis,treatment and even prevention of SMA.
作者
葛绣山
宋昉
GE Xiushan;SONG Fang(Department of Neurology,Children Hospital Affiliated to Capital Institute of Pediatric,Beijing100020,China;Department of Medical Genetics,Capital Institute of Pediatric,Beijing100020,China)
出处
《中国医药导报》
CAS
2020年第15期177-180,共4页
China Medical Herald
基金
国家重点研发计划精准医学研究重点专项项目(2016YFC0901505)。
关键词
脊髓性肌萎缩
运动神经元存活基因
自然史
儿童
Spinal muscular atrophy
Survival motor neuron gene
Natural history
Children