Paediatric Neurology, Università Cattolica del Sacro Cuore, Rome, Italy.
Centro Clinico Nemo, Fondazione Policlinico Universitario Agostino Gemelli IRCCS, Rome, Italy.
Nat Rev Dis Primers. 2022 Aug 4;8(1):52. doi: 10.1038/s41572-022-00380-8.
Spinal muscular atrophy (SMA) is a neurodegenerative disorder caused by mutations in SMN1 (encoding survival motor neuron protein (SMN)). Reduced expression of SMN leads to loss of α-motor neurons, severe muscle weakness and often early death. Standard-of-care recommendations for multidisciplinary supportive care of SMA were established in the past few decades. However, improved understanding of the pathogenetic mechanisms of SMA has led to the development of different therapeutic approaches. Three treatments that increase SMN expression by distinct molecular mechanisms, administration routes and tissue biodistributions have received regulatory approval with others in clinical development. The advent of the new therapies is redefining standards of care as in many countries most patients are treated with one of the new therapies, leading to the identification of emerging new phenotypes of SMA and a renewed characterization of demographics owing to improved patient survival.
脊髓性肌萎缩症（SMA）是一种由 SMN1（编码生存运动神经元蛋白（SMN））突变引起的神经退行性疾病。SMN 表达减少导致 α-运动神经元丧失、严重肌肉无力，通常导致早期死亡。过去几十年已经确立了 SMA 多学科支持性治疗的标准建议。然而，对 SMA 发病机制的深入了解导致了不同治疗方法的发展。三种通过不同分子机制、给药途径和组织分布来增加 SMN 表达的治疗方法已获得监管部门批准，其他方法也正在临床开发中。新疗法的出现正在重新定义治疗标准，因为在许多国家，大多数患者都接受一种新疗法的治疗，这导致 SMA 的新兴新表型的出现，以及由于患者生存能力提高而对人口统计学特征的重新描述。
