浅谈脊髓性肌萎缩症的三级预防现状  

On the current situation of tertiary prevention of spinal muscular atrophy

作　　者：马科 侯东霞 王晓华 MA Ke;HOU Dongxia;WANG Xiaohua(Inner Mongolia Medical University,Inner Mongolia O10110,China;Department of Geneeugenics of Maternal and Child Health Hospital of Inner Mongolia Autonomous Region,Hohhot,Inner Mongolia O10020,China)

机构地区：[1]内蒙古医科大学,内蒙古呼和浩特010110 [2]内蒙古自治区妇幼保健院遗传优生科,内蒙古呼和浩特010020

出　　处：《中国优生与遗传杂志》2023年第12期2599-2603,共5页Chinese Journal of Birth Health & Heredity

基　　金：内蒙古自然科学基金(2021MS08161)。

摘　　要：脊髓性肌萎缩症是由脊髓前角运动神经元退化变性,引起患者对称性肌无力和肌萎缩的神经肌肉病,是儿童最常见的致死性常染色体隐性遗传病。SMA起病迅速隐匿、病情复杂多样,其诊治往往需要多学科共同参与。目前,SMA的药物治疗研究虽然取得了突破性的进展,但高昂的治疗费用仍是国家和患者沉重经济及精神负担。因此,按照出生缺陷防控体系推进SMA三级预防策略,在婚前/孕前、产前、新生儿3个阶段对重点人群进行早筛早检是SMA防治的主要措施。本文对SMA的致病机制、临床诊断进行简要介绍,并重点对SMA三级预防现状进行综述。Spinal muscular atrophy is a neuromuscular disease caused by the degeneration and muscular atrophy of the motor neurons in the anterior horn of the spinal cord.It is the most common fatal autosomal recessive disease in children.The onset of SMA is rapidly insidious and complex,and its diagnosis and treatment often requires the participation of multiple disciplines.At present,although the drug therapeutic research of SMA has made a breakthrough,the high cost of treatment is still a heavy economic and mental burden on the country and patients.Therefore,according to the birth defect prevention and control system,the SMA tertiary prevention strategy should be promoted,and the main measure of SMA prevention and control is to conduct early screening and early examination of key populations in the three stages of premarital/prepregnancy,prenatal and newborn.This paper provides a brief introduction to the pathogenic mechanisms and clinical diagnosis of SMA,and focus on the status of SMA tertiary prevention in SMA.

关 键 词：脊髓性肌萎缩症 三级预防 携带者筛查 产前诊断 新生儿筛查 

分 类 号：R746.4[医药卫生—神经病学与精神病学]