脊髓性肌萎缩症（SMA）是一种常染色体隐性遗传神经肌肉疾病,因运动神经元存活基因（SMN）1缺失/变异导致SMN蛋白缺乏致病,临床表现为进行性肌萎缩与肌无力,并常伴呼吸、消化、营养、骨骼等多系统器官损害,属严重致死致残性遗传病,2018年被纳入国家《第一批罕见病目录》。近年来随着精准医学的发展,SMA的药物治疗获得前所未有的进展,中国也已有两种疾病修正治疗药物应用于临床实践。国内外诊疗共识对SMA的标准化管理均提出新规范,尤其强调以多学科团队作为基础开展全病程管理。药物治疗时代SMA精准诊治与个体化管理的新进展,将为中国SMA的发展之路带来更好的前景。

Spinal muscular atrophy (SMA) is an autosomal recessive genetic neuromuscular disease, which is caused by the lack of SMN protein due to the deletion/variation of the survival motor neuron gene (SMN) 1 gene. Its clinical manifestations are progressive muscular atrophy and muscle weakness, often accompanied by damage to multiple system organs such as respiration, digestion, nutrition and orthopedics, etc., and it is a serious fatal and disabling genetic disease. In 2018, SMA was included in the National List of the First Batch of Rare Diseases. The development of precision medicine has witnessed unprecedented progress in the treatment of SMA, and China has also had two disease-modifying treatment drugs used in clinical practice. In recent years, domestic and foreign diagnosis and treatment consensuses have put forward new norms for the standardized care of SMA, with particular emphasis on the entire course of disease management based on the collaboration diagnosis and treatment of multi-disciplinary team. The new advances in precise diagnosis and treatment and individualized management of SMA in the era of drug therapy will bring better prospects for the development of SMA in China.