患儿，女，出生日期为2021年2月，现43月龄，因5q脊髓性肌萎缩症（spinal muscular atrophy，SMA）家族史，生后常规行多重连接探针扩增技术（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。2021年3月第1次入住深圳市儿童医院神经内科，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，完善用药前所有准备并开始诺西那生钠鞘内注射治疗，并按用药计划多次再入院治疗和运动功能评估。至今未间断累计14次鞘注治疗。2024年1月家属自行要求添加利司扑兰口服液联合治疗。患儿呼吸和进食功能始终完全正常，脊柱发育良好，无明显脊柱侧弯现象。患儿大运动发育里程碑稍落后：4月龄竖头稳、俯卧位头抬起90度，6月龄仰卧位翻身到俯卧位，8月龄扶手坐稳、9月龄独坐稳，13月龄牵一手走；16月龄独走，19月龄行走稳，30月龄自行玩滑滑梯，36月龄双脚跳。运动功能评分较正常同龄儿童偏低。但目前患儿各项生活技能、运动功能表现和正常同龄儿童大致相仿。

An 43-month-old female baby, born in February 2021, got MLPA examination after birth because of the family history of SMA, and the results showed SMN1 gene exon 7, 8 homozygous deletions and two copies of SMN2 gene. The baby was admitted to the Department of Neurology of Shenzhen Children's Hospital for the first time in March 2021.Physical examination showed she had normal muscle strength and tone and good motor function, and therefore she was diagnosed with presymptomatic 5q SMA. Nusinersen intrathecal injection was given to the baby after all preparations were completed. She was subsequently multiple readmitted for the treatment and motor function assessment according to the medication plan. Up to now, the child has received a total of 14 treatments without interruption. And she was additionally treated with Risdiplam by her parents in January 2024. From the beginning until now, her breathing and eating functions have been normal, without scoliosis. Her motor development milestone is slightly delayed compared to normal children: head up stability and head up 90 degrees in prone position at 4-month, flip from supine position to prone position at 6-month, sit with hand support at 8-monthand sit alone at 9-month, walk by holding her one hand at 13-month, walk alone at 16-month, walk steadily at 19-month, play alone on a slide at 30-month, jump with both feet at 36-month, and her motor function score is lower than that of normal children. Currently, her various life skills and motor function performances are roughly similar to those of normal children of the same age.