运动神经元病课件

Chen YanClinical features of als and 1 运动神经元病运动神经元病（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。运动神经元病（motor neuron disease2Amyotrophic lateral sclerosis(ALS）Progressive muscular atrophy（PMA）Primary lateral sclerosis（PLS ）Progressive bulbar palsy （PBP ）Flail arm syndromeFlail leg syndromeALS-plus syndromeSPECTRUM OF MOTOR NEURON DISEA3ALS isthemostcommonformofmotorneurondiseaseandincludesupperandlowermotorneuronpathology.PMA isaprogressivelowermotorneurondisorder.SomeexpertsbelieveitrepresentsaformofALS.ALS is the most common form o4Frontotemporal dementia may be associated with ALS in 15 to 50 percent of cases.Flail arm syndrome is characterized by progressive lower motor neuron weakness and wasting that predominantly affects the proximal arm.Upper extremity onset is most often heralded by hand weakness but may begin in the shoulder girdle muscles.PMA is a progressive lower motor neuron disorder.Clinical patterns of progressionThese may produce impairment affecting limb(table 1),bulbar(table 2),axial(table 3)and respiratory(table 4)function.Upper extremity onset is most often heralded by hand weakness but may begin in the shoulder girdle muscles.Flail arm syndromeCognitive dysfunction does not exclude the diagnosis of ALS.Cognitive symptomsProgressive muscular atrophy（PMA）Clinically Probable ALS is defined on clinical evidence alone by UMN and LMN signs in at least two regions with some UMN signs necessarily rostral to(above)the LMN signs.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Cognitive dysfunction does not exclude the diagnosis of ALS.Progressive muscular atrophy（PMA）In patients with unilateral arm(leg)onset the most common pattern of spread is to the contralateral arm(leg),then to the ipsilateral leg(arm),then to the contralateral remaining leg(arm),and then to the bulbar muscles.Sensory symptomsIn patients with bulbar onset the most common pattern of spread is to one arm and then to the contralateral arm.PLS isaprogressiveisolateduppermotorneurondisorder.ComparedwithALS,itischaracterizedbyslowerprogression,lackofweightloss,andabsenceoflowermotorneuronfindingsonexaminationorelectromyographyinthefirstfouryearsaftersymptomonset.PBP isaprogressiveupperandlowermotorneurondisorderofcranialmuscles.Thisconditionmayoccasionallystayisolatedtothebulbarsegment,butmorecommonly,upperandlowermotorneuronsignsandsymptomsspreadtoinvolveothersegments.Frontotemporal dementia may be5Flail arm syndrome ischaracterizedbyprogressivelowermotorneuronweaknessandwastingthatpredominantlyaffectstheproximalarm.Itusuallybeginsproximallyandspreadsdistallytothepointwherearmandhandfunctionisseverelyimpaired.Itisoftenasymmetric.Flail leg syndromeischaracterizedbyprogressivelowermotorneuronweaknessandwastingwithonsetinthedistalleg.ALS-plus syndrome somepatientshavealloftheclinicalfeaturesofALSalongwithfeaturesofotherdisorderssuchasfrontotemporaldementia,autonomicinsufficiency,parkinsonism,supranucleargazeparesis,and/orsensoryloss.Flail arm syndrome is characte6ThelossofmotorneuronsresultsintheprimaryclinicalsymptomsandsignsofALS.Thesemayproduceimpairmentaffectinglimb(table1),bulbar(table2),axial(table3)andrespiratory(table4)function.CLINICAL SYMPTOMS AND SIGNS 7Amyotrophic lateral sclerosis(ALS）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Sensory symptomsAmyotrophic lateral sclerosis(ALS）The loss of motor neurons results in the primary clinical symptoms and signs of ALS.Clinically Probable ALS is defined on clinical evidence alone by UMN and LMN signs in at least two regions with some UMN signs necessarily rostral to(above)the LMN signs.Cognitive symptomsFlail arm syndromePrimary lateral sclerosis（PLS）Asymmetric limb weakness is the most common presentation of ALS(80 percent).Sensory symptomsAmyotrophic lateral sclerosis 8运动神经元病课件9运动神经元病课件10运动神经元病课件11AsymmetriclimbweaknessisthemostcommonpresentationofALS(80percent).Upperextremityonsetismostoftenheraldedbyhandweaknessbutmaybeginintheshouldergirdlemuscles.LowerextremityonsetofALSmostoftenbeginswithweaknessoffootdorsiflexion(footdrop),whileproximalpelvicgirdleonsetislesscommon.Initial presentation and patie12Upper motor neuron symptomsLower motor neuron symptomsCognitive symptomsAutonomicsymptomsParkinsonismandsupranucleargazepalsySensorysymptomsClinical patterns of progressionUpper motor neuron symptoms13Cognitiveimpairment,typicallyrelatedtofrontotemporalexecutivedysfunction,mayprecedeorfollowtheonsetofuppermotorneuronand/orlowermotorneurondysfunctioninpatientswithALS.FrontotemporaldementiamaybeassociatedwithALSin15to50percentofcases.CognitivedysfunctiondoesnotexcludethediagnosisofALS.Cognitive symptomsCognitive impairment,typicall14Autonomic symptoms,parkinsonism,supranuclear gaze paresis,and/orsensory loss mayoccuraspartofanALS-plussyndrome.Autonomic symptoms,parkinsoni15Inpatientswithunilateralarm(leg)onsetthemostcommonpatternofspreadistothecontralateralarm(leg),thentotheipsilateralleg(arm),thentothecontralateralremainingleg(arm),andthentothebulbarmuscles.Inpatientswithbulbaronsetthemostcommonpatternofspreadistoonearmandthentothecontralateralarm.Clinical patterns of progressionIn patients with unilateral ar16 ThediagnosisofALSisbaseduponclinicalcriteriathatincludethepresenceofuppermotorneuronandlowermotorneuronsigns,progressionofdisease,andtheabsenceofanalternativeexplanation.Diagnosis The diagnosis of A17The clinical standard for the diagnosis of ALS is the revised El Escorial The clinical standard for the diagnosis of ALS is the revised El Escorial World Federation of Neurology criteWorld Federation of Neurology crite诊断依据：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Diagnostic criteria The clini18Thebodyisdividedintofourregions:cranial,cervical,thoracicandlumbosacral.Clinically Definite ALSisdefinedonclinicalevidencealonebythepresenceofUMN,aswellasLMNsigns,inthreeregions.Clinically Probable ALSisdefinedonclinicalevidencealonebyUMNandLMNsignsinatleasttworegionswithsomeUMNsignsnecessarilyrostralto(above)theLMNsigns.Cinically Probable-Laboratory-Supported ALSisdefinedwhenclinicalsignsofUMNandLMNdysfunctionareinonlyoneregion,orwhenUMNsignsalonearepresentinoneregion,andLMNsignsdefinedbyEMGcriteriaarepresentinatleasttwolimbs,withproperapplicationofneuroimagingandclinicallaboratoryprotocolstoexcludeothercauses.Clinically Possible ALSisdefinedwhenclinicalsignsofUMNandLMNdysfunctionarefoundtogetherinonlyoneregionorUMNsignsarefoundaloneintwoormoreregions;orLMNsignsarefoundrostraltoUMNsignsandthediagnosisofClinicallyProbable-Laboratory-supportedALScannotbeprovenbyevidenceonclinicalgroundsinconjunctionwithelectrodiagnostic,neurophysiologic,neuroimagingorclinicallaboratorystudies.OtherdiagnosesmusthavebeenexcludedtoacceptadiagnosisofClinicallypossibleALS.Clinically Suspected ALSisapureLMNsyndrome,whereinthediagnosisofALScouldnotberegardedassufficientlycertaintoincludethepatientinaresearchstudy.Revised El Escorial schema for the clinical diagnosis of amyotrophic lateral sclerosis(ALS)The body is divided into four 19运动神经元病课件20谢谢！21运动神经元病课件