[Nusinersen in the treatment of 4 children with presymptomatic spinal muscular atrophy]

Y J Feng; Y C Yu; Y Yan; L Xu; C Y Zhao; G X Sheng; C Chen; R L Yang; T T Chen; F Gao; S S Mao

doi:10.3760/cma.j.cn112140-20240307-00159

[Nusinersen in the treatment of 4 children with presymptomatic spinal muscular atrophy]

Zhonghua Er Ke Za Zhi. 2024 Aug 2;62(8):786-788. doi: 10.3760/cma.j.cn112140-20240307-00159.

[Article in Chinese]

Authors

Y J Feng¹, Y C Yu¹, Y Yan¹, L Xu¹, C Y Zhao¹, G X Sheng¹, C Chen², R L Yang², T T Chen³, F Gao¹, S S Mao¹

Affiliations

¹ Department of Neurology, Children's Hospital, Zhejiang University School of Medicine, National Clinical Research Center for Child Health, Hangzhou 310052, China.
² Department of Genetics and Metabolism, Children's Hospital, Zhejiang University School of Medicine, National Clinical Research Center for Child Health, Hangzhou 310052, China.
³ Department of Developmental Behavior, Children's Hospital, Zhejiang University School of Medicine, National Clinical Research Center for Child Health, Hangzhou 310052, China.

PMID: 39039883
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。.

Publication types

Case Reports

MeSH terms

Child
Child, Preschool
Exons
Female
Humans
Infant
Male
Muscular Atrophy, Spinal* / diagnosis
Muscular Atrophy, Spinal* / drug therapy
Muscular Atrophy, Spinal* / genetics
Muscular Atrophy, Spinal* / therapy
Oligonucleotides
Spinal Muscular Atrophies of Childhood / diagnosis
Spinal Muscular Atrophies of Childhood / drug therapy
Spinal Muscular Atrophies of Childhood / genetics
Spinal Muscular Atrophies of Childhood / therapy
Survival of Motor Neuron 2 Protein / genetics

Substances

nusinersen
Survival of Motor Neuron 2 Protein
Oligonucleotides