脊髓性肌萎缩症治疗研究进展

Recent research on the treatment of spinal muscular atrophy

脊髓性肌萎缩症(spinal muscular atrophy,SMA)是一种常染色体隐性遗传的神经肌肉疾病,主要特征为进行性肌无力和肌肉萎缩。该病是导致患儿在婴幼儿期死亡的首要遗传病。SMA治疗的研究领域近年来发展迅速,部分相关治疗药物已经成功获批上市。该文以SMA近年的治疗研究进展作一综述。

Spinal muscular atrophy(SMA)is an autosomal recessive neuromuscular disease characterized by progressive muscular weakness and atrophy.SMA,as an inherited disease,is the leading cause of death in infants and young children.Rapid progress has been made in the research field of SMA in recent years,and some related treatment drugs have been successfully approved for marketing.This article reviews the recent research advances in the treatment of SMA.