脊髓性肌萎缩症(SMA)是一种常见的遗传性儿童致死疾病,主要影响运动神经元,导致肌肉无力和萎缩。其主要由survival motor neuron(SMN)1基因的缺失或突变引起,导致SMN蛋白的缺乏,进而导致运动神经元的退化。根据病情严重程度和起病年龄的早晚,SMA可分为SMA Ⅰ型(婴儿型)、SMA Ⅱ型(儿童型)、SMA Ⅲ型(少年型)和SMA Ⅳ型(成年型)4个亚型。每个亚型的症状和预后不同,临床表现范围从早期起病、运动能力丧失到轻度肌无力。SMA患者的临床表现、家族史、遗传学检测和分子遗传学分析是SMA诊断的关键,其中,检测SMN1基因的缺失或突变是最常用的方法。诺西那生钠、利司扑兰和索伐瑞韦是3种经批准用于SMA治疗的基因治疗药物,它们能够增加SMN蛋白的表达。此外,康复治疗、支持性护理、营养支持和呼吸管理等综合管理也对SMA患者的生活质量和预后至关重要。随着治疗策略的改善和综合管理的应用,SMA患者的生存期和生活质量得到了显著改善。近年来,对SMA病因和发病机制的研究取得了显著进展,为该疾病的治疗和管理提供了新的机会。本综述旨在回顾SMA的病因、病理生理特征、临床亚型、诊断方法、管理策略等,以期为临床医生和研究人员提供参考。

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