为探讨诺西那生钠治疗症状前5q脊髓性肌萎缩症（SMA）的临床疗效,回顾性收集1例症状前5q SMA患儿的临床资料、药物治疗经过及随访结果,并结合国外病例报道进行分析。患儿为女性,10月龄,因存在SMA家族史出生后常规MLPA检测发现SMN1基因7、8号外显子纯合缺失,SMN2基因2个拷贝数。患儿四肢肌力、肌张力正常,运动功能良好,确诊为症状前5q SMA。按计划予诺西那生钠鞘内注射治疗,目前已完成5剂治疗,无不良反应,运动发育里程碑基本正常。提示5q SMA患儿于症状前开始接受诺西那生钠治疗获益最大,其运动发育里程碑有望达到正常水平。

To explore the clinical efficacy of nusinersen in treating presymptomatic 5q spinal muscular atrophy (SMA). The relevant clinical data, from a baby with presymptomatic 5q SMA were retrospectively collected, and a comprehensive analysis was made based on the existing literature. A 10-month-old girl got MLPA examination after birth because of the family history of SMA, and the results showed the homozygous deletions of SMN1 gene exon 7 and 8 and two copies of SMN2 gene. Physical examination showed that she had normal muscle strength and tone and good motor function, and therefore she was diagnosed with presymptomatic 5q SMA. Five doses of nusinersen have been treated by intrathecal injection according to the medication plan, and no adverse reactions have been observed. The milestones of motor development are basically normal. It is suggested that nusinersen treatment during the presymptomatic stage can achieve the best effect in children with 5q SMA, and the motor development milestone is expected to reach the normal level.