儿童脊髓性肌萎缩症SMN1基因及肌电图研究  

SMN1 mutation and electromyogram of spinal muscular atrophy in children

作　　者：刘维亮 李芳 何志旭 艾戎 LIU Weiliang;LI Fang;HE Zhixu(Department of Pediatrics AffiHated Hospital of Guizhou Medical University, Guiyang (550004),Guizhou. China)

机构地区：[1]贵州医科大学附属医院儿科,贵州贵阳550004 [2]贵州医科大学附属医院眼科,贵州贵阳550004

出　　处：《癫痫与神经电生理学杂志》2019年第3期151-154,共4页Journal of Epileptology and Electroneurophysiology(China)

基　　金：贵州省科技厅学院联合基金[2010]3173;贵州省科技厅贵州医科大学附属医院科技合作计划项目[黔科合LH字(2014)7122].

摘　　要：目的:对已通过基因检测确诊为儿童脊髓性肌萎缩症(SMA)患者的基因检测和临床肌电图(EMG)资料进行分析.以期更充分地认识本病。方法:在较大SMA患者样本中采用聚合酶链反应-限制性片段长度多态性(PCR-RFLP)技术检测到SMA的运动神经元生存基因SMN中SMN1基因缺失.对SMA患者的肌电图、部分患者的肌肉活检病理进行分析。结果:PCR-RFLP技术检测到患儿为纯合SMN1外显子7缺失者。基因检测确诊的SMA患儿中88%有神经原性损害.肌活检中91%的患儿为神经原性损害。EMG在少数SMA患儿中发现有周围[运动和(或)感觉]神经病损害表现.结论:PCR-RFLP技术适合大规模SMA患儿快速临床筛查研究。EMG在SMA中有较特异的改变,是常规临床中最重要的检查手段。通过对SMA广泛的临床特征及EMG检查进行分析研究.以及对SMA的病因进行探讨,对治疗有重要指导意义。Objective: To explore gene detection and electromyogram (EMG) of cohort cases with spinal muscular atrophy (SMA). Methods: The homozygous deletion was detected by PCR-RFLP in patients. EMG and muscle biopsy of a large cohort of children with SMA diagnosed with survival motor neuron( SMN) gene exon7 homozygous deletion analysis were analyzed. Kesults: The homozygous deletion of SMN1 exon7 was identified by PCR-RFLP in SMA patients. Among patients with homozygous deletion of SMN1 exon7, neurogenic damage frequency by EMG was 88%, and the rate of neurogenic damage using muscle biopsy was 91% in the patients. A small number of patients had features of peripheral (motor and/or sensory) neuropathy. Conclusion: PCR RFLP technology is suitable for rapid clinical screening in a large cohort of patients with SMA. EMG has very specific changes in SMA and is the most important means of routine clinical examination with guiding significanee for the etiology and treatment of SMA by in depth analysis of clinical features and EMG results.

关 键 词：脊髓性肌萎缩症(SMA) 儿童 运动神经元生存基因(SMN基因) 肌电图(EMG) 

分 类 号：R746.4[医药卫生—神经病学与精神病学] R741.044[医药卫生—临床医学]