再论重视可治性神经系统遗传性疾病早期诊断与治疗  

Emphasized the diagnosis and therapy of curative neurogenetic diseases

作　　者：张成[1] ZHANG Cheng(Department of Neurology,the First Affiliated Hospital,Sun Yat-sen University,Guangzhou 510080,Guangdong,China)

机构地区：[1]中山大学附属第一医院神经科,广州510080

出　　处：《中国现代神经疾病杂志》2021年第6期427-429,共3页Chinese Journal of Contemporary Neurology and Neurosurgery

摘　　要：近年神经系统遗传性疾病的治疗取得长足进步,既往无法治疗的疾病目前已有特异性药物且有较显著的疗效。口服PTC124可以改善Duchenne型肌营养不良症患儿的蹲起和行走能力;鞘内注射诺西那生钠可以使脊髓性肌萎缩症2型患儿站立和行走,但在疾病早期进行特异性治疗仍需强调。本文还对特异性药物治疗中应注意的问题和治疗后患者的营养、护理、康复等综合治疗阐述个人观点。In recent years,great progress has been made in the treatment of neurogenetic diseases.Specific drugs have been used to treat diseases that were uncurable in the past,and there are noteworthy curative effects.For example,oral intake of PCT124 can improve the squatting and walking ability of children with Duchenne muscular dystrophy.Intrathecal injection of Nusinersen Sodium enables children with spinal muscular atrophy 2 to stand and walk.Meanwhile,specific treatment in the early stages of the disease should be emphasized.In addition,this paper put forward my views on the issues that need attention during the specific drug therapy,as well as the comprehensive treatment such as nutrition,nursing and rehabilitation after the therapy.

关 键 词：遗传性疾病 先天性 神经系统疾病 综述 

分 类 号：R741[医药卫生—神经病学与精神病学]