运动神经元病课件(同名173)

Clinicalfeaturesofalsandotherformsofmotorneurondisease

ChenYan1-Clinicalfeaturesofalsand运动神经元病（motorneurondiseaseMND）：是一组病因未明的选择性侵犯脊髓前角细胞、脑干后组运动神经元、皮质锥体细胞及锥体束的慢性进行性神经变性疾病。2-运动神经元病（motorneurondiseaseSPECTRUMOFMOTORNEURONDISEASEAmyotrophiclateralsclerosis(ALS）Progressivemuscularatrophy

（PMA）Primarylateralsclerosis

（PLS）Progressivebulbarpalsy

（PBP）FlailarmsyndromeFlaillegsyndromeALS-plussyndrome3-SPECTRUMOFMOTORNEURONDISEAALSisthemostcommonformofmotorneurondiseaseandincludesupperandlowermotorneuronpathology.PMA

isaprogressivelowermotorneurondisorder.SomeexpertsbelieveitrepresentsaformofALS.

4-ALSisthemostcommonformoPLS

isaprogressiveisolateduppermotorneurondisorder.ComparedwithALS,itischaracterizedbyslowerprogression,lackofweightloss,andabsenceoflowermotorneuronfindingsonexaminationorelectromyographyinthefirstfouryearsaftersymptomonset.PBP

isaprogressiveupperandlowermotorneurondisorderofcranialmuscles.Thisconditionmayoccasionallystayisolatedtothebulbarsegment,butmorecommonly,upperandlowermotorneuronsignsandsymptomsspreadtoinvolveothersegments.5-PLS

isaprogressiveisolateFlailarmsyndromeischaracterizedbyprogressivelowermotorneuronweaknessandwastingthatpredominantlyaffectstheproximalarm.Itusuallybeginsproximallyandspreadsdistallytothepointwherearmandhandfunctionisseverelyimpaired.Itisoftenasymmetric.Flaillegsyndrome

ischaracterizedbyprogressivelowermotorneuronweaknessandwastingwithonsetinthedistalleg.ALS-plussyndromesomepatientshavealloftheclinicalfeaturesofALSalongwithfeaturesofotherdisorderssuchasfrontotemporaldementia,autonomicinsufficiency,parkinsonism,supranucleargazeparesis,and/orsensoryloss.6-FlailarmsyndromeischaracteCLINICALSYMPTOMSANDSIGNSThelossofmotorneuronsresultsintheprimaryclinicalsymptomsandsignsofALS.Thesemayproduceimpairmentaffectinglimb(table1),bulbar(table2),axial(table3)andrespiratory(table4)function.

7-CLINICALSYMPTOMSANDSIGNS8-8-9-9-10-10-11-11-Initialpresentationandpatientcomplaints

AsymmetriclimbweaknessisthemostcommonpresentationofALS(80percent).Upperextremityonsetismostoftenheraldedbyhandweaknessbutmaybeginintheshouldergirdlemuscles.LowerextremityonsetofALSmostoftenbeginswithweaknessoffootdorsiflexion(footdrop),whileproximalpelvicgirdleonsetislesscommon.12-InitialpresentationandpatieUppermotorneuronsymptomsLowermotorneuronsymptomsCognitivesymptomsAutonomicsymptomsParkinsonismandsupranucleargazepalsy

Sensorysymptoms

Clinicalpatternsofprogression13-Uppermotorneuronsymptoms13-Cognitiveimpairment,typicallyrelatedtofrontotemporalexecutivedysfunction,mayprecedeorfollowtheonsetofuppermotorneuronand/orlowermotorneurondysfunctioninpatientswithALS.FrontotemporaldementiamaybeassociatedwithALSin15to50percentofcases.CognitivedysfunctiondoesnotexcludethediagnosisofALS.Cognitivesymptoms14-Cognitiveimpairment,typicallAutonomicsymptoms,parkinsonism,

supranucleargazeparesis,and/orsensorylossmayoccuraspartofanALS-plussyndrome.15-Autonomicsymptoms,parkinsoniInpatientswithunilateralarm(leg)onsetthemostcommonpatternofspreadistothecontralateralarm(leg),thentotheipsilateralleg(arm),thentothecontralateralremainingleg(arm),andthentothebulbarmuscles.Inpatientswithbulbaronsetthemostcommonpatternofspreadistoonearmandthentothecontralateralarm.ClinicalpatternsofprogressionZ16-InpatientswithunilateralarDiagnosis

ThediagnosisofALSisbaseduponclinicalcriteriathatincludethepresenceofuppermotorneuronandlowermotorneuronsigns,progressionofdisease,andtheabsenceofanalternativeexplanation.17-DiagnosisThediagnosisofADiagnosticcriteria

TheclinicalstandardforthediagnosisofALSistherevisedElEscorialWorldFederationofNeurologycrite诊断依据：临床、肌电图或神经病理学检查有下运动神经元损害的证据临床检查有上运动神经元损害的证据症状或体征在一个部位内进行性扩展或扩展到其他部位同时排除以下两点有能解释上和（或）下运动神经元损害的其他疾病的电生理依据有能解释临床体征和电生理特点的其他疾病的神经影像学依据18-Diagnosticcriteria

ThecliniThebodyisdividedintofourregions:cranial,cervical,thoracicandlumbosacral.

ClinicallyDefiniteALSisdefinedonclinicalevidencealonebythepresenceofUMN,aswellasLMNsigns,inthreeregions.

ClinicallyProbableALSisdefinedonclinicalevidencealonebyUMNandLMNsignsinatleasttworegionswithsomeUMNsignsnecessarilyrostralto(above)theLMNsigns.

CinicallyProbable-Laboratory-SupportedALSisdefinedwhenclinicalsignsofUMNandLMNdysfunctionareinonlyoneregion,orwhenUMNsignsalonearepresentinoneregion,andLMNsignsdefinedbyEMGcriteriaarepresentinatleasttwolimbs,withproperapplicationofneuroimagingandclinicallaboratoryprotocolstoexcludeothercauses.

ClinicallyPossibleALSisdefinedwhenclinicalsignsofUMNandLMNdysfunctionarefoundtogetherinonlyoneregionorUMNsignsarefoundaloneintwoormoreregions;orLMNsignsarefoundrostraltoUMNsignsandthediagnosisofClinicallyProbable-Laboratory-supportedALScannotbeprovenbyevidenceonclinicalgroundsinconjunctionwithelectrodiagnostic,neurophysiologic,neuroimagingorclinicallaboratorystudies.OtherdiagnosesmusthavebeenexcludedtoacceptadiagnosisofClinicallypossibleALS.

ClinicallySuspectedALSisapureLMNsyndrome,whereinthediagnosisofALScouldnotberegardedassufficientlycertaintoincludethepatientinaresearchstudy.RevisedElEscorialschemafortheclinicaldiagnosisofamyotrophiclateralsclerosis(ALS)19-Thebodyisdividedintofour20-20-谢谢！21-谢谢！21-Clinicalfeaturesofalsandotherformsofmotorneurondisease

ChenYan22-Clinicalfeaturesofalsand运动神经元病（motorneurondiseaseMND）：是一组病因未明的选择性侵犯脊髓前角细胞、脑干后组运动神经元、皮质锥体细胞及锥体束的慢性进行性神经变性疾病。23-运动神经元病（motorneurondiseaseSPECTRUMOFMOTORNEURONDISEASEAmyotrophiclateralsclerosis(ALS）Progressivemuscularatrophy

（PMA）Primarylateralsclerosis

（PLS）Progressivebulbarpalsy

（PBP）FlailarmsyndromeFlaillegsyndromeALS-plussyndrome24-SPECTRUMOFMOTORNEURONDISEAALSisthemostcommonformofmotorneurondiseaseandincludesupperandlowermotorneuronpathology.PMA

isaprogressivelowermotorneurondisorder.SomeexpertsbelieveitrepresentsaformofALS.

25-ALSisthemostcommonformoPLS

isaprogressiveisolateduppermotorneurondisorder.ComparedwithALS,itischaracterizedbyslowerprogression,lackofweightloss,andabsenceoflowermotorneuronfindingsonexaminationorelectromyographyinthefirstfouryearsaftersymptomonset.PBP

isaprogressiveupperandlowermotorneurondisorderofcranialmuscles.Thisconditionmayoccasionallystayisolatedtothebulbarsegment,butmorecommonly,upperandlowermotorneuronsignsandsymptomsspreadtoinvolveothersegments.26-PLS

isaprogressiveisolateFlailarmsyndromeischaracterizedbyprogressivelowermotorneuronweaknessandwastingthatpredominantlyaffectstheproximalarm.Itusuallybeginsproximallyandspreadsdistallytothepointwherearmandhandfunctionisseverelyimpaired.Itisoftenasymmetric.Flaillegsyndrome

ischaracterizedbyprogressivelowermotorneuronweaknessandwastingwithonsetinthedistalleg.ALS-plussyndromesomepatientshavealloftheclinicalfeaturesofALSalongwithfeaturesofotherdisorderssuchasfrontotemporaldementia,autonomicinsufficiency,parkinsonism,supranucleargazeparesis,and/orsensoryloss.27-FlailarmsyndromeischaracteCLINICALSYMPTOMSANDSIGNSThelossofmotorneuronsresultsintheprimaryclinicalsymptomsandsignsofALS.Thesemayproduceimpairmentaffectinglimb(table1),bulbar(table2),axial(table3)andrespiratory(table4)function.

28-CLINICALSYMPTOMSANDSIGNS29-8-30-9-31-10-32-11-Initialpresentationandpatientcomplaints

AsymmetriclimbweaknessisthemostcommonpresentationofALS(80percent).Upperextremityonsetismostoftenheraldedbyhandweaknessbutmaybeginintheshouldergirdlemuscles.LowerextremityonsetofALSmostoftenbeginswithweaknessoffootdorsiflexion(footdrop),whileproximalpelvicgirdleonsetislesscommon.33-InitialpresentationandpatieUppermotorneuronsymptomsLowermotorneuronsymptomsCognitivesymptomsAutonomicsymptomsParkinsonismandsupranucleargazepalsy

Sensorysymptoms

Clinicalpatternsofprogression34-Uppermotorneuronsymptoms13-Cognitiveimpairment,typicallyrelatedtofrontotemporalexecutivedysfunction,mayprecedeorfollowtheonsetofuppermotorneuronand/orlowermotorneurondysfunctioninpatientswithALS.FrontotemporaldementiamaybeassociatedwithALSin15to50percentofcases.CognitivedysfunctiondoesnotexcludethediagnosisofALS.Cognitivesymptoms35-Cognitiveimpairment,typicallAutonomicsymptoms,parkinsonism,

supranucleargazeparesis,and/orsensorylossmayoccuraspartofanALS-plussyndrome.36-Autonomicsymptoms,parkinsoniInpatientswithunilateralarm(leg)onsetthemostcommonpatternofspreadistothecontralateralarm(leg),thentotheipsilateralleg(arm),thentothecontralateralremainingleg(arm),andthentothebulbarmuscles.Inpatientswithbulbaronsetthemostcommonpatternofspreadistoonearmandthentothecontralateralarm.ClinicalpatternsofprogressionZ37-InpatientswithunilateralarDiagnosis

ThediagnosisofALSisbaseduponclinicalcriteriathatincludethepresenceofuppermotorneuronandlowermotorneuronsigns,progressionofdisease,andtheabsenceofanalternativeexplanation.38-DiagnosisThediagnosisofADiagnosticcriteria

TheclinicalstandardforthediagnosisofALSistherevisedElEscorialWorldFederationofNeurologycrite诊断依据：临床、肌电图或神经病理学检查有下运动神经元损害的证据临床检查有上运动神经元损害的证据症状或体征在一个部位内进行性扩展或扩展到其他部位同时排除以下两点有能解释上和（或）下运动神经元损害的其他疾病的电生理依据有能解释临床体征和电生理特点的其他疾病的神经影像学依据39-Diagnosticcriteria

ThecliniThebodyisdividedintofourregions:cranial,cervical,thoracicandlumbosacral.

ClinicallyDefiniteALSisdefinedonclinicalevidencealonebythepresenceofUMN,aswellasLMNsigns,inthreeregions.

ClinicallyProbableALSisdefinedonclinicalevidencealonebyUMNandLMNsignsinatleasttworegionswithsomeUMNsignsnecessarilyrostralto(above)theLMNsigns.