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  • Title: [Nusinersen in the treatment of 4 children with presymptomatic spinal muscular atrophy].
    Author: Feng YJ, Yu YC, Yan Y, Xu L, Zhao CY, Sheng GX, Chen C, Yang RL, Chen TT, Gao F, Mao SS.
    Journal: Zhonghua Er Ke Za Zhi; 2024 Aug 02; 62(8):786-788. PubMed ID: 39039883.
    Abstract:
    4例患儿均因新生儿筛查发现运动神经元存活（SMN）1基因7号外显子纯合缺失就诊，均无脊髓性肌萎缩症（SMA）临床症状，神经系统查体均无阳性体征，电生理检查尺神经、腓总神经复合肌肉动作电位（CMAP）波幅均处于同年龄段正常范围。4例患儿经基因检测提示SMN2基因拷贝数均为3，均诊断为症状前SMA。患儿在出现症状前接受诺西那生钠疾病修正治疗，随访14~18个月，均可实现正常运动里程碑，监测CMAP波幅均处于同年龄段正常范围，无患儿发病。.
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