脊髓肌萎缩症（SMA）是一种遗传性神经肌肉疾病，其特征是骨骼肌萎缩和无力。最新的SMA治疗方法包括药物努西瑞生、奥纳塞姆诺醚阿贝帕弗和利斯地普兰。然而，关于这些治疗对成年SMA患者的效果，尤其是长期效果的报道有限。因此，本研究旨在确定努西瑞生治疗成年SMA患者的疗效。我们回顾性地研究了2018年1月至2023年1月之间接受努西瑞生治疗的SMA2型或3型患者。所有患者在开始努西瑞生治疗前都使用了Hammersmith功能运动量表-扩展版（HFMSE）进行评估，并与基线HFMSE评分相比较。共有6名患者接受了努西瑞生治疗，其中每种类型的SMA患者分别为3名。在开始努西瑞生治疗前，患者的中位年龄为51.5岁（范围为33-59岁），治疗期中位数为50.5个月（范围为33-57个月）。3名患者在接受努西瑞生治疗后的15-26个月表现出改善的趋势，有2名患者的HFMSE评分保持稳定。3名患者出现了严重的不良事件：一个硬膜下血肿，一个偶然的骨折和一个脸颊皮肤纤维肉瘤。努西瑞生治疗显示出对SMA2型或3型成年患者的较晚疗效。努西瑞生的明显疗效需要进一步调查，包括大量病例和长期随访期。版权所有 © 2023年日本儿童神经学学会。由Elsevier B.V.出版。保留所有权利。

Spinal muscular atrophy (SMA) is a hereditary neuromuscular disorder characterized by skeletal muscle atrophy and weakness. New treatments for SMA have been developed namely, the drugs nusinersen, onasemnogene abeparvovec, and risdiplam. However, there are limited reports on their effects on adult patients with SMA, particularly over long periods. Therefore, this study aimed to determine the efficacy of nusinersen treatment in adult patients with SMA.We retrospectively reviewed patients with SMA type 2 or 3 who received nusinersen treatment between January 2018 and January 2023. All patients were evaluated using the Hammersmith Functional Motor Scale-Expanded (HFMSE) before the commencement of nusinersen treatment, and the change with respect to the baseline HFMSE score was compared.A total of six patients, three patients each with SMA type 2 or 3, were treated with nusinersen. The median age of the patients before the commencement of nusinersen treatment was 51.5 years (range, 33-59 years), and the median treatment period was 50.5 months (range, 33-57 months). Three patients showed an increased tendency of improvement on the HFMSE at 15-26 months after nusinersen treatment, and the HFMSE score was maintained in two patients. Significant adverse events were observed in three patients: one subdural hematoma, one incidental bone fracture, and one cheek dermatofibrosarcoma.Nusinersen treatment showed later efficacy in adult patients with SMA type 2 or 3. The distinct efficacy of nusinersen requires further investigation using a large number of cases and a long follow-up period.Copyright © 2023 The Japanese Society of Child Neurology. Published by Elsevier B.V. All rights reserved.