摘要
目的观察利司扑兰治疗脊髓性肌萎缩症(SMA)的疗效。方法回顾性分析1例SMA 1b型患儿的临床、治疗和随访资料,进行分析。结果患儿男性,2月龄+18d,因“四肢无力45 d,喉中痰鸣4 d”就诊。结合患儿临床表现、肌电图检查及基因检测确诊为SMA 1b型,经口服利司扑兰治疗22个月后,实现独走,从1型转为3型,目前结局良好。结论利司扑兰治疗SMA 1b型患儿获得较好疗效,为利司扑兰治疗SMA 1b型提供了真实世界证据。
Aim To observe the treatment of the spinal muscular atrophy(SMA)with risdiplam.Method The clinical,treatment and follow-up data of the patient was reviewed for analysis.Results A male infant patient,aged 2 months and 18 days,was admitted to the hospital for limb weakness for 45days and phlegm ringing in larynx for 4 days.The infant was diagnosed with spinal muscular atrophy type 1b based on the clinical manifestations,electromyography and genetic testing,and was treated with oral risdiplam.After 22 months,the infant was able to walk alone and transformed from type 1 to type 3,which exceeded the best outcome of clinical studies.Conclusion Results of this study provide realworld evidence for the efficacy of risdiplam in the treatment of SMA patients.
作者
张晓莉
李佳霖
马轶超
靳明月
李小丽
徐丹
王俊玲
韩瑞
谢加阳
王梦月
ZHANG Xiao-li;Ll Jia-lin;MA Yi-chao;JIN Ming-yue;Li Xiao-li;XU Dan;WANG Ju-ling;HAN Ru;XIE Jia-yang;WANG Meng-yue(Department of Pediatrie Neurology,the Third Afliated Hospital of Zhengzhou University,Zhengzhou 450052,China)
出处
《中国临床神经科学》
2024年第5期566-569,共4页
Chinese Journal of Clinical Neurosciences
关键词
脊髓性肌萎缩症
利司扑兰
治疗
随访
spinal muscular atrophy
risdiplam
treatment
follow-up
