中国实用儿科杂志

中国实用儿科杂志 ›› 2023, Vol. 38 ›› Issue (10): 785-794.DOI: 10.19538/j.ek2023100615

• 综述 • 上一篇    下一篇

脊髓性肌萎缩症的治疗研究进展

  

  1. 哈尔滨医科大学附属第一医院儿科，黑龙江  哈尔滨  150000
  • 出版日期:2023-10-06 发布日期:2023-09-28
  • 通讯作者: 徐向平，电子信箱：xxp562005@163.com

Advances in research on the treatment for spinal muscular atrophy

  1. Department of Pediatrics，the First Affiliated Hospital of Harbin Medical University，Harbin  150000，China
  • Online:2023-10-06 Published:2023-09-28

摘要： 脊髓性肌萎缩症（SMA）是一种以进行性肌无力和肌萎缩为特征性临床表现的常染色体隐性遗传的神经肌肉疾病，严重影响婴幼儿生命健康。近年来部分相关药物已成功获批上市，SMA治疗的研究取得革命性的进展，该文从SMA的获批疗法到潜在的未来治疗靶点进行综述，并提出相关见解。

关键词: 脊髓性肌萎缩症, 运动神经元存活蛋白, 疾病修饰治疗, 靶向治疗, 基因治疗

Abstract: Spinal muscular atrophy（SMA）is an autosomal recessive neuromuscular disease characterized by progressive muscular weakness and atrophy，which seriously affects the lifespan and health of infants and children. Revolutionary progress has been made in research on the treatment of SMA In recent years，some related drugs have been successfully approved for marketing. This article illustrates a review from approved therapies to future therapeutic targets，and provides relevant insights.

Key words: spinal muscular atrophy, survival motor neuron, disease-modifying treatment, targeted therapy, gene therapy