Abstract: Spinal muscular atrophy (SMA) is a common autosomal recessive neuromuscular disease caused by degeneration of anterior horn cell in spinal cord. The clinical feature is characterized by progressive symmetrical myasthenia and amyotrophia. The disease is caused by mutation of survival motor neuron (SMN1) gene. Four clinical types are defined for SMA: type Ⅰ, Ⅱ, Ⅲ and Ⅳ. The diagnosis depends on clinical manifestation, inherited history, laboratory test and genetic analysis. To date, there is no effective treatment for SMA, so prenatal diagnosis and carrier screening are important for the prevention of this disease.

Key words: Muscular atrophy, spinal, Gene deletion, Prenatal diagnosis, Review

摘要： 脊髓性肌萎缩症系由脊髓前角运动神经元退行性变而导致的进行性、对称性肌无力和肌萎缩的一类常染色体隐性遗传性疾病，其致病基因为运动神经元生存（SMN1）基因。临床上共分为4 种类型即脊髓性肌萎缩症Ⅰ、Ⅱ、Ⅲ和Ⅳ型，其临床诊断主要依赖于临床表现、家族遗传史、实验室检查及基因检测。目前尚无有效治疗方法，因此产前诊断和对基因携带者的筛查为有效预防措施。

关键词: 肌萎缩, 脊髓性, 基因缺失, 产前诊断, 综述

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