脊髓性肌萎缩症中国三级预防指南  

Chinese guidelines for three levels of prevention of spinal muscular atrophy

作　　者：中华医学会神经病学分会 中华医学会神经病学分会神经遗传学组 肖波[2] 崔丽英[3] 吴志英[4] 王艺 龙莉莉 龙泓羽 Chinese Society of Neurology;Chinese Society of Neurogenetics;Xiao Bo;Cui Liying;Wu Zhiying;Wang Yi(不详;Department of Neurology,Xiangya Hospital,Central South University,Changsha 410013,China;Department of Neurology,Peking Union Medical College Hospital,Peking Union Medical College,Chinese Academy of Medical Sciences,Beijing 100730,China;Department of Neurology,the Second Affiliated Hospital,Zhejiang University of School of Medicine,Hangzhou 310009,China;Department of Neurology,Children's Hospital of Fudan University,Shanghai 201102,China)

机构地区：[1]不详 [2]中南大学湘雅医院神经内科,长沙410013 [3]中国医学科学院北京协和医院神经科,北京100730 [4]浙江大学医学院附属第二医院神经内科,杭州310009 [5]复旦大学附属儿科医院神经内科,上海201102 [6]中南大学湘雅医院

出　　处：《中华神经科杂志》2023年第5期476-484,共9页Chinese Journal of Neurology

基　　金：国家重点研发计划(2021YFC1005305)。

摘　　要：脊髓性肌萎缩症(SMA)是最常见的婴幼儿常染色体隐性遗传病之一,主要是运动神经元存活基因1突变导致的脊髓前角运动神经元退行病变,以肌无力和肌萎缩为主要临床表现。我国SMA致病变异的总体人群携带率为1.2%~2.2%,发生出生缺陷的风险大。三级预防的策略可有效降低SMA的发生率。为了进一步规范我国的SMA三级预防,由中华医学会神经病学分会神经遗传学组牵头国内多学科专家,遵循国内外指南的撰写规范,根据我国的研究现状和患者的特点,参考国际上最新的研究证据,并借鉴相关指南,最终总结出适合我国国情的SMA三级预防指南。该指南的颁布将为我国SMA的预防发挥积极作用,具有重要的现实意义,并将会产生深远的影响。Spinal muscular atrophy(SMA)is one of the most common autosomal recessive diseases in infants and young children,characterized by muscle weakness and atrophy due to motor neuron degeneration in the anterior horn of the spinal cord,mainly caused by mutations in survival motor neuron gene 1.The overall population carrying rate of pathogenic genetic variations of SMA in China is 1.2%-2.2%,and the risk of birth defects is relatively high.Three levels of prevention strategies can effectively reduce the occurrence of SMA.In order to further standardize and improve the prevention of SMA in China,the Chinese Society of Neurogenetics summarized and evaluated the latest research evidence and referred to relevant guidelines,and finally formed a guideline for three levels of prevention of SMA.This guideline will play a positive role in the practice of SMA prevention in China.

关 键 词：脊髓性肌萎缩症 一级预防 二级预防 三级预防 指南 

分 类 号：R744.8[医药卫生—神经病学与精神病学]