{Reference Type}: Journal Article
{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
{Volume}: 62
{Issue}: 8
{Year}: 2024 Aug 2
暂无{DOI}: 10.3760/cma.j.cn112140-20240307-00159
{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。.