先天性肌無力綜合征診療指南(2019年版)

先天性肌無力綜合征診療指南（2019年版）3333CMSChATChATColQR-CMAP21-1congenitalmyasthenicsyndromeCMSCMSCMS21-1ColQCMSCMSCNSCMS1009.2ChATColQAChEAChRAChRLAMB2CMSLAMB2CMSLAMB2CMSLAMB2CMSDok-7RapsynGFPT1SCANA1GFPT1GMPPBCMSBIN1AChE.EP.RNS.CMSCMSCMSChATColQLAMB2PiersonAChRAChREPNav1.4EPachRNav1.4.1.1.1.1.1.SFEMGJitterChAT3Hz 10HzColQCMAP CMAPR-CAMP21-121-1ColQ R-CMAPA. CMAPB.CMAPC.CMAP ..,2016,49（8）:604-609.2. SangerSanger21-221-2 CMS21-221-2 CMS21-221-2 CMS21-221-2 CMSSFEMGCMSJitterCMSCMAPCMSCMSMGCMSCMSMGMGLambert-Eaton LESCMSMGLESCMSCMS-Lambert-EatonR-CAMP CMSLES JitterCMSMGLESCMS MuSK MG21-221-221-2 CMS21-2 CMSChATColQAChR 34-DAP34-DAPDok-7Rapsyn 34-DAPGFPT1 34-DAPGMPPB1 ChATChAT

新生兒、嬰幼兒起病，少數(shù)青少年起病的肌無力AchR抗體、試驗(yàn)性免疫治疔、肌酸激CMS-genepanel是否具■有以卜特點(diǎn):癥狀具行波動性疲勞試驗(yàn)陽性有R-CAMP是否有以下任■電生理現(xiàn)象：RNS低頻遞減/運(yùn)動后電刺激低頻遞減RCMAPSFEMG異常CMS新生兒、嬰幼兒起病，少數(shù)青少年起病的肌無力AchR抗體、試驗(yàn)性免疫治疔、肌酸激CMS-genepanel是否具■有以卜特點(diǎn):癥狀具行波動性疲勞試驗(yàn)陽性有R-CAMP是否有以下任■電生理現(xiàn)象：RNS低頻遞減/運(yùn)動后電刺激低頻遞減RCMAPSFEMG異常CMS可能性小，要全面排除肌病CoIQ和慢汕道綜合征靶向基因測序肌酸激酶升高》10倍―kCMS-gen肌病或肌營養(yǎng)不良MG或LES出現(xiàn)其他兩項(xiàng)之一免疫治療有效AchR抗體陽診斷CMSRCMAP.Jitter.MG.LES.LambertEaton CMS-panel.CMSParrJR.Howcommonischildhoodmyasthenia?TheUKincidenceandprevalenceofautoimmuneandcongenitalmyasthenia.ArchDisChild,2014,99(6):539-542.EngelAG.Congenitalmyasthenicsyndromesin2018.CurrNeurolNeurosciRep,2018,18(8):46.LorenzoniPJ.Congenitalmyasthenicsyndrome:abriefreview.PediatrNeurol,2012,46(3):141-148.AndrewGE.Congenitalmyasthenicsyndromes:pathogenesis,diagn