Spinal muscular atrophy is a rare and progressive neuromuscular disease that, without treatment, leads to progressive weakness and often death. A plethora of studies have led to the approval of three high-cost and effective treatments since 2016. These treatments, nusinersen, onasemnogene abeparvovec, and risdiplam, have not been directly compared and have varying challenges in administration. In this review, we discuss the evidence supporting the use of these medications, the process of treatment selection, monitoring after treatment, the limited data comparing treatments, as well as future directions for investigation and therapy.

中文翻译：

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临床观点：治疗脊髓性肌萎缩症


脊髓性肌萎缩症是一种罕见的进行性神经肌肉疾病，如果不治疗，会导致进行性无力，甚至死亡。自 2016 年以来，大量研究已导致三种高成本且有效的治疗方法获得批准。这些治疗方法，nusinersen、onasemnogene abeparvovec 和 risdiplam 尚未进行直接比较，并且在给药方面存在不同的挑战。在这篇综述中，我们讨论了支持使用这些药物的证据、治疗选择的过程、治疗后的监测、比较治疗的有限数据以及未来研究和治疗的方向。