基于电生理检查的中国青少年和成人脊髓性肌萎缩症高危筛查方法的单中心探索研究  

High-risk Screening of Spinal Muscular Atrophy for Adolescents and Adults Based on Electrophysiology:A Single-center Exploratory Study

作　　者：王宁宁 孙健 翟玮奇[4] 唐金雪 祝博晨 焦可馨 成纳川 夏邢宇 董漪 陈嬿 朱雯华 朱山风 赵重波[1,2,3] 乔凯[1,2,3] WANG Ning-ning;SUN Jian;ZHAI Weiqi;TANG Jin-xue;ZHU Bo-chen;JIAO Ke-xin;CHENG Na-chuan;XIA Xing-yuu;DONG Yu;CHEN Yan;ZHU Wen-hua;HU Shan-feng;ZHAO Chong-bo;QIAO Kai(Department of Neurology,Huashan Hospital,Fudan University,Shanghai 200040,China;National Center for Neurological Diseases,Shanghai 200040,China;Rare Disease Center,Huashan Hospital,Fudan University,Shanghai 200040,China;Research Institute of Brain-like Artificial Intelligence Science and Technology,Fudan University,Shanghai 200040,China;Qilin District People's Hospital,Qujing City,655099,China)

机构地区：[1]复旦大学附属华山医院神经内科,上海200040 [2]国家神经疾病医学中心,上海200040 [3]复旦大学附属华山医院罕见病中心,上海200040 [4]复旦大学类脑人工智能科学与技术研究院,上海200040 [5]云南省曲靖市麒麟区人民医院,曲靖655099

出　　处：《中国临床神经科学》2024年第5期514-519,共6页Chinese Journal of Clinical Neurosciences

摘　　要：目的探索青少年和成人脊髓性肌萎缩症(SMA)的电生理高危筛查标准,以期缩短SMA患者的确诊时间并改善预后。方法根据运动神经元存活基因1(SMN1)突变确诊的SMA患者特点,初步拟定SMA的电生理、临床高危标准和筛查关键词,输入2022年1月至2023年2月在复旦大学附属华山医院进行肌电图检查的全部病例报告,利用自编程序和关键词,筛选出符合电生理高危筛查标准的患者,根据建立的临床标准进行评估,符合标准的患者采用多重连接依赖探针扩增技术(MLPA)进行SMN基因检测,对比SMA组(4例)与非SMA组(5例;诊断为其他疾病)的电生理学指标差异。结果共纳入6053例患者,通过电生理高危标准初步筛选出45例(0.74%)可疑SMA患者,通过分析电子病历进一步筛选出符合SMA临床高危标准的患者9例(0.15%)。经门诊随访和基因检测,4例(0.07%)经基因检测确诊为SMA。电生理学指标分析结果显示SMA组患者胫神经波幅明显低于非SMA组,提示SMA患者下肢受损较重。结论SMA是SMN1突变所导致的常染色体隐性遗传病,通过SMA的临床和电生理高危筛查能有效筛选出潜在的SMA患者,高危标准的敏感度和特异度仍需扩大样本量进一步研究。Aim To explore the electrophysiological high-risk screening criteria for spinal muscular atrophy(SMA)in adolescents and adults,with a view to shortening the time to diagnosis and improving the prognosis for SMA patients.Methods According to the clinical and electrophysiological characteristics of SMA patients diagnosed in our center,the clinical and electrophysiological highrisk criteria for SMA were preliminarily established.All patients who underwent EMG examination in Huashan Hospital from January 2022 to February 2023 were screened,followed by further clinical screening.The SMN gene was detected by multiplex ligation-dependent probe amplification(MLPA).The differences in electrophysiologic parameters between SMA and the diagnosis of other diseases were compared.Results A total of 6053 patients were included,and 45 suspected SMA patients(0.74%)were screened by electrophysiological high-risk criteria,and 9 patients(0.15%)met the clinical highrisk criteria.After genetic testing,a total of 4 patients(0.07%)were genetically diagnosed with SMA.The results of electrophysiological index analysis showed that the tibial nerve amplitude of the patients in the SMA group was significantly lower than that of the non-SMA group,suggesting that the lower limbs of the SMA patients were more damaged.Conclusion SMA is an autosomal recessive genetic disease caused by SMN1 mutation.Potential SMA patients can be effectively screened through clinical and electrophysiological high-risk screening for SMA.The sensitivity and specificity of high-risk criteria still need to be further studied with larger samples.

关 键 词：脊髓性肌萎缩症 电生理学 高危筛查 复合肌肉动作电位 

分 类 号：R741.044[医药卫生—神经病学与精神病学]