中国医学前沿杂志（电子版）2026，Vol.18Issue(2)：22-29,8.DOI:10.12037/YXQY.2026.02-04
脊髓性肌萎缩症的诊断和治疗研究进展
Research advances in the diagnosis and treatment of spinal muscular atrophy
摘要
Abstract
Spinal muscular atrophy(SMA)is a rare motor neuron disease caused by pathogenic variants in the survival motor neuron 1(SMN1)gene.The primary clinical manifestations include progressive muscle weakness and atrophy,which can lead to disability and even death.With ongoing breakthroughs in understanding the disease mechanism and drug development,early identification and presymptomatic diagnosis of SMA have become possible.Disease-modifying treatments are increasingly accessible and significant progress has been made in curative gene therapy.This article systematically reviews recent advances in the diagnosis and treatment of SMA,aiming to enhance understanding and promote standardization.关键词
脊髓性肌萎缩症/早期诊断/疾病修正治疗/基因疗法Key words
Spinal muscular atrophy/Early diagnosis/Disease-modifying treatment/Gene therapy引用本文复制引用
吴莹,魏翠洁..脊髓性肌萎缩症的诊断和治疗研究进展[J].中国医学前沿杂志（电子版）,2026,18(2):22-29,8.基金项目
National Natural Science Foundations of China(82402177) （82402177）
National High Level Hospital Clinical Research Funding(Interdepartmental Research Project of Peking University First Hospital,2023IR51) （Interdepartmental Research Project of Peking University First Hospital,2023IR51）
Beijing High-Level Innovation and Entrepreneurship Talent Support Program-Healthcare Platform young backbonetalent projects(G202531202) 国家自然科学基金(82402177) （G202531202）
中央高水平医院临床科研业务费资助(北京大学第一医院院内交叉研究专项,2023IR51) （北京大学第一医院院内交叉研究专项,2023IR51）
北京高层次创新创业人才支持计划"医疗卫生平台"青年骨干人才(G202531202) （G202531202）
