目的 评估诺西那生钠治疗2型和3型儿童脊髓性肌萎缩症（spinal muscular atrophy, SMA）的疗效和安全性。 方法 前瞻性收集2022年1月—2025年11月中南大学湘雅医院儿童医学中心接受诺西那生钠治疗的29例2型或3型SMA患儿的运动功能、复合肌肉动作电位和脊柱Cobb角等指标，分析比较治疗前后各指标的变化。 结果 29例患儿中，19例（66%）随访时间≥26个月，与基线相比，治疗26个月后分别有53%（10/19）、78%（14/18）和89%（16/18）的患儿在Hammersmith功能性运动量表扩展版、修订上肢功能模块和神经肌肉病运动功能测试20项/32项评分上获得临床意义改善，双侧正中神经、双侧尺神经及双侧桡神经复合肌肉动作电位波幅均较基线提升（P<0.05）。治疗26个月时，Cobb角的中位增加值为6.2°（P<0.05）。康复组较非康复组神经肌肉病运动功能测试20项/32项评分改善更显著、脊柱侧弯进展更缓慢（P<0.05）。29例患儿共行309次鞘内注射，与操作相关的不良反应发生率为15.2%（47/309），未报告严重不良事件。 结论 诺西那生钠治疗儿童2型和3型SMA耐受性及安全性良好，运动功能量表应答和复合肌肉动作电位改善比例持续提高，康复训练有助于提高疗效。

Objective To evaluate the efficacy and safety of nusinersen in children with spinal muscular atrophy (SMA) types 2 and 3. Methods Prospective data were collected on motor function, compound muscle action potential (CMAP), and spinal Cobb angle from 29 children with SMA type 2 or 3 treated with nusinersen at the Children's Medical Center of Xiangya Hospital, Central South University, from January 2022 to November 2025. Pre- and post-treatment changes were analyzed. Results Of the 29 children, 19 (66%) had a follow-up duration of ≥26 months. Compared with baseline, after 26 months of treatment, clinically meaningful improvement was observed in 53% (10/19) on the Hammersmith Functional Motor Scale-Expanded (HFMSE), 78% (14/18) on the Revised Upper Limb Module (RULM), and 89% (16/18) on the Motor Function Measure 20-item/32-item (MFM-20/32). CMAP amplitudes increased from baseline in the bilateral median, ulnar, and radial nerves (P<0.05). The Cobb angle increased by a median of 6.2 degrees at 26 months of treatment (P<0.05). Compared with the non-rehabilitation group, the rehabilitation group showed greater improvement in MFM-20/32 scores and slower scoliosis progression (P<0.05). Across the 29 children, 309 intrathecal injections were performed; the incidence of procedure-related adverse reactions was 15.2% (47/309), and no serious adverse events were reported. Conclusions Nusinersen is well tolerated and safe in children with SMA types 2 and 3. The proportions achieving clinically meaningful responses on motor-function scales and CMAP improvements increase over time, and rehabilitation training may enhance efficacy.