運(yùn)動(dòng)神經(jīng)元病

運(yùn)動(dòng)神經(jīng)元病第一頁(yè)，共21頁(yè)。運(yùn)動(dòng)神經(jīng)元病（motorneurondiseaseMND）：是一組病因未明的選擇性侵犯脊髓前角細(xì)胞、腦干后組運(yùn)動(dòng)神經(jīng)元、皮質(zhì)錐體細(xì)胞及錐體束的慢性進(jìn)行性神經(jīng)變性疾病。第二頁(yè)，共21頁(yè)。SPECTRUMOFMOTORNEURONDISEASEAmyotrophiclateralsclerosis(ALS）Progressivemuscularatrophy

（PMA）Primarylateralsclerosis

（PLS）Progressivebulbarpalsy

（PBP）FlailarmsyndromeFlaillegsyndromeALS-plussyndrome第三頁(yè)，共21頁(yè)。ALSisthemostcommonformofmotorneurondiseaseandincludesupperandlowermotorneuronpathology.PMA

isaprogressivelowermotorneurondisorder.SomeexpertsbelieveitrepresentsaformofALS.第四頁(yè)，共21頁(yè)。PLS

isaprogressiveisolateduppermotorneurondisorder.ComparedwithALS,itischaracterizedbyslowerprogression,lackofweightloss,andabsenceoflowermotorneuronfindingsonexaminationorelectromyographyinthefirstfouryearsaftersymptomonset.PBP

isaprogressiveupperandlowermotorneurondisorderofcranialmuscles.Thisconditionmayoccasionallystayisolatedtothebulbarsegment,butmorecommonly,upperandlowermotorneuronsignsandsymptomsspreadtoinvolveothersegments.第五頁(yè)，共21頁(yè)。Flailarmsyndromeischaracterizedbyprogressivelowermotorneuronweaknessandwastingthatpredominantlyaffectstheproximalarm.Itusuallybeginsproximallyandspreadsdistallytothepointwherearmandhandfunctionisseverelyimpaired.Itisoftenasymmetric.Flaillegsyndrome

ischaracterizedbyprogressivelowermotorneuronweaknessandwastingwithonsetinthedistalleg.ALS-plussyndromesomepatientshavealloftheclinicalfeaturesofALSalongwithfeaturesofotherdisorderssuchasfrontotemporaldementia,autonomicinsufficiency,parkinsonism,supranucleargazeparesis,and/orsensoryloss.第六頁(yè)，共21頁(yè)。CLINICALSYMPTOMSANDSIGNSThelossofmotorneuronsresultsintheprimaryclinicalsymptomsandsignsofALS.Thesemayproduceimpairmentaffectinglimb(table1),bulbar(table2),axial(table3)andrespiratory(table4)function.

第七頁(yè)，共21頁(yè)。第八頁(yè)，共21頁(yè)。第九頁(yè)，共21頁(yè)。第十頁(yè)，共21頁(yè)。第十一頁(yè)，共21頁(yè)。Initialpresentationandpatientcomplaints

AsymmetriclimbweaknessisthemostcommonpresentationofALS(80percent).Upperextremityonsetismostoftenheraldedbyhandweaknessbutmaybeginintheshouldergirdlemuscles.LowerextremityonsetofALSmostoftenbeginswithweaknessoffootdorsiflexion(footdrop),whileproximalpelvicgirdleonsetislesscommon.第十二頁(yè)，共21頁(yè)。UppermotorneuronsymptomsLowermotorneuronsymptomsCognitivesymptomsAutonomicsymptomsParkinsonismandsupranucleargazepalsy

Sensorysymptoms

Clinicalpatternsofprogression第十三頁(yè)，共21頁(yè)。Cognitiveimpairment,typicallyrelatedtofrontotemporalexecutivedysfunction,mayprecedeorfollowtheonsetofuppermotorneuronand/orlowermotorneurondysfunctioninpatientswithALS.FrontotemporaldementiamaybeassociatedwithALSin15to50percentofcases.CognitivedysfunctiondoesnotexcludethediagnosisofALS.Cognitivesymptoms第十四頁(yè)，共21頁(yè)。Autonomicsymptoms,parkinsonism,

supranucleargazeparesis,and/orsensorylossmayoccuraspartofanALS-plussyndrome.第十五頁(yè)，共21頁(yè)。Inpatientswithunilateralarm(leg)onsetthemostcommonpatternofspreadistothecontralateralarm(leg),thentotheipsilateralleg(arm),thentothecontralateralremainingleg(arm),andthentothebulbarmuscles.Inpatientswithbulbaronsetthemostcommonpatternofspreadistoonearmandthentothecontralateralarm.ClinicalpatternsofprogressionZ第十六頁(yè)，共21頁(yè)。Diagnosis

ThediagnosisofALSisbaseduponclinicalcriteriathatincludethepresenceofuppermotorneuronandlowermotorneuronsigns,progressionofdisease,andtheabsenceofanalternativeexplanation.第十七頁(yè)，共21頁(yè)。Diagnosticcriteria

TheclinicalstandardforthediagnosisofALSistherevisedElEscorialWorldFederationofNeurologycrite診斷依據(jù)：臨床、肌電圖或神經(jīng)病理學(xué)檢查有下運(yùn)動(dòng)神經(jīng)元損害的證據(jù)臨床檢查有上運(yùn)動(dòng)神經(jīng)元損害的證據(jù)癥狀或體征在一個(gè)部位內(nèi)進(jìn)行性擴(kuò)展或擴(kuò)展到其他部位同時(shí)排除以下兩點(diǎn)有能解釋上和（或）下運(yùn)動(dòng)神經(jīng)元損害的其他疾病的電生理依據(jù)有能解釋臨床體征和電生理特點(diǎn)的其他疾病的神經(jīng)影像學(xué)依據(jù)第十八頁(yè)，共21頁(yè)。Thebodyisdividedintofourregions:cranial,cervical,thoracicandlumbosacral.

ClinicallyDefiniteALSisdefinedonclinicalevidencealonebythepresenceofUMN,aswellasLMNsigns,inthreeregions.

ClinicallyProbableALSisdefinedonclinicalevidencealonebyUMNandLMNsignsinatleasttworegionswithsomeUMNsignsnecessarilyrostralto(above)theLMNsigns.

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

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

ClinicallySuspectedALS