摘要：

脊髓性肌萎缩症为常染色体隐性遗传性神经肌肉病，以脑干和脊髓运动神经元变性引起的进行性肌无力和肌萎缩为特征，是临床常见的婴儿致死性遗传性神经肌肉病。运动神经元生存 1（SMN1）基因突变致 SMN 蛋白缺乏为其发病机制，深入了解疾病发病机制的分子学基础，以促进包括反义寡核苷酸、腺相关病毒介导的 SMN1 基因替代疗法、上调 SMN 蛋白表达的口服小分子药物，以及肌肉激活药物、神经保护药物等新兴特异性治疗方法的研发，降低病死率、改善患者生活质量。

关键词: 肌萎缩, 脊髓性, 运动神经元生存蛋白质1, 基因, 综述

Abstract:

Spinal muscular atrophy (SMA) is an autosomal recessive neuromuscular disease characterized by progressive muscular weakness and atrophy caused by degeneration of brain stem and spinal cord motor neurons. SMA is common genetic neuromuscular disorder that causes infant death. The pathogenesis is survival motor neuron (SMN) protein deletion caused by homozygous disruption of SMN1 gene. Greater knowledge of the molecular basis of SMA pathogenesis has fuelled the development of potential therapeutic approaches, reduced mortality and improved the life quality of SMA patients. The therapeutic strategies include a modified antisense oligonucleotide (ASO), adeno-associated virus (AAV) mediated SMN1 gene replacement therapy, oral small molecular drugs which upregulated SMN protein expression, muscle activating drugs, and neuroprotective drugs, etc.

Key words: Muscular atrophy, spinal, Survival of motor neuron 1 protein, Genes, Review