目的 探讨诺西那生钠联合利司扑兰治疗脊髓性肌萎缩症（spinal muscular atrophy, SMA）的有效性和不良反应。 方法 回顾性分析中南大学湘雅医院儿童医学中心收治的10例诺西那生钠联合利司扑兰治疗的SMA患儿的临床资料。 结果 10例SMA患儿中，Ⅰ型4例，Ⅱ型4例，Ⅲ型2例，其中9例首选诺西那生钠单药治疗，1例首选诺西那生钠联合利司扑兰治疗。10例患儿联合治疗的中位时间为10.5个月（范围：0.5~20.0）个月，其中6例联合治疗超过6个月，运动和/或呼吸功能有所改善；余4例联合治疗时长分别为0.5、1.0、1.3和4.0个月，整体改善不显著。联合治疗后，5例患儿出现皮肤变黑，2例腰椎穿刺部位疼痛，1例呕吐，1例痰液增多，1例全天睡眠时间减少，所有不良反应均为轻度，无需药物干预。 结论 诺西那生钠联合利司扑兰治疗SMA有一定疗效，且未见明显不良反应。

Objective To explore the efficacy and adverse reactions of nusinersen combined with risdiplam in the treatment of spinal muscular atrophy (SMA). Methods A retrospective analysis was conducted on the clinical data of 10 pediatric SMA patients treated with nusinersen combined with risdiplam at the Children's Medical Center of Xiangya Hospital, Central South University. Results Among the 10 SMA patients, there were 4 with type I, 4 with type II, and 2 with type III. Nine patients initially received nusinersen monotherapy, while 1 patient received nusinersen combined with risdiplam. The median duration of combination therapy with nusinersen and risdiplam for the 10 patients was 10.5 months (range: 0.5-20.0 months), with 6 patients undergoing combination therapy for more than 6 months, showing improvements in motor and/or respiratory function. The remaining 4 patients had combination treatment durations of 0.5, 1.0, 1.3, and 4.0 months, respectively, with no significant overall improvement. After combined treatment, 5 patients experienced skin hyperpigmentation, 2 had lumbar puncture site pain, 1 experienced vomiting, 1 had increased sputum production, and 1 had reduced total sleep time. All adverse reactions were mild and did not require medical intervention. Conclusions Nusinersen combined with risdiplam demonstrates efficacy in the treatment of SMA, and no significant adverse reactions have been observed.