脊髓性肌萎缩症的药物治疗研究进展

Research Progress in Drug Therapy of Spinal Muscular Atrophy

脊髓性肌萎缩症(SMA)是一种常染色体隐性遗传的神经元疾病,主要特征为进行性肌无力和肌肉萎缩。SMA是导致患儿在婴幼儿期死亡的主要遗传病。近年来,SMA的治疗技术及手段发展迅速,已有药物成功获批上市并应用于临床。本文就SMA的药物治疗研究进展进行综述。

Spinal muscular atrophy(SMA)is an autosomal recessive neuronal disease characterized by progressive muscle weakness and muscle atrophy.It is the main genetic disease that causes death in the period of infants and young children.The treatment techniques and methods of SMA has developed rapidly in recent years,and some drugs have been successfully approved for marketing and used in clinical practice.This article reviews the research progress in drug therapy of SMA.