脊髓性肌萎缩症的发病机制及诊治的研究进展  

Progress in Pathogenesis, Diagnosis and Treatment of Spinal Muscular Atrophy

作　　者：王康 赵慧 高敏 张敬军 WANG Kang;ZHAO Hui;GAO Min;ZHANG Jing-jun(Department of Neurology,the Second Affiliated Hospital of Shandong First Medical University,Tai’an 271000,China)

机构地区：[1]山东第一医科大学第二附属医院神经内科,泰安271000

出　　处：《中国临床神经科学》2023年第2期226-230,共5页Chinese Journal of Clinical Neurosciences

摘　　要：脊髓性肌萎缩症是一组常见的常染色体隐性遗传病,以脊髓前角运动神经元退行性变而导致的进行性、对称性肌萎缩和肌张力减低为临床特征。共分为4种类型即脊髓性肌萎缩症Ⅰ、Ⅱ、Ⅲ和Ⅳ型,其临床诊断主要依赖于临床表现、家族遗传史、实验室检查及基因检测。文中对脊髓性肌萎缩症的发病机制及诊治进展进行综述。Spinal muscular atrophy is a group of common autosomal recessive hereditary diseases characterized by progressive,symmetrical muscular atrophy and reduced muscle tone due to degeneration of motor neurons in the anterior horn of the spinal cord.There are four types of spinal muscular atrophyⅠ,Ⅱ,ⅢandⅣ.The clinical diagnosis of spinal muscular atrophy mainly depends on clinical manifestations,family genetic history,laboratory examination and gene detection.The pathogenesis,diagnosis and treatment of spinal muscular atrophy were reviewed.

关 键 词：脊髓 肌萎缩 运动神经元存活基因 外显子纯合缺失 

分 类 号：R744[医药卫生—神经病学与精神病学]