Huntington's Disease Information Page - National Institute of ...

Huntington's disease (HD) is an inherited disorder that causes brain cells, called neurons, to die in various areas of the brain, ... Skiptomaincontent SubmitSearch COVID-19 Getthelatestfunding,research,andpublichealthinformationfromNINDS GetthelatestresearchinformationfromNIH|Español GetthelatestpublichealthinformationfromHHS GetthelatestpublichealthinformationfromCDC YouarehereHome»Disorders»AllDisorders Huntington'sDiseaseInformationPage Huntington'sDiseaseInformationPage Whatresearchisbeingdone? AmajorfocusofresearchonHDistounderstandthetoxicityofmutanthuntinginproteintobraincellsandtodeveloppotentialdrugsforcounteractingit. TheHDgenediscovery,whichNINDS-fundedresearchhelpedtoidentify,isallowingscientiststorecruitindividualswhocarrytheHDgeneintoclinicalstudiesbeforetheybecomeill.Researchershopetounderstandhowthedefectivegeneaffectsvariousstructuresinthebrainandthebody'schemistryandmetabolism.Someoftheclinicalsymptomsinneurodegenerativediseasesmaybecausedbytheultimatemalfunctioningofneuronalcircuits. Scientistsareusingcutting-edgemethodssuchasoptogenetics(whereneuronsareactivatedorsilencedinthebrainsoflivinganimalsusinglightbeams)tostudy suchcircuitdefectsinHD.Scientistsarealsousingstemcellstostudydiseasemechanismsandtestpotentialtherapeuticdrugs. TheNINDS-fundedPREDICT-HDstudyaims toidentifybiomarkers(biologicalchangesthatcanbeusedtopredict,diagnose,ormonitoradisease)forHD.AlargeandrelatedNINDS-supportedstudyaimstoidentifyadditionalgeneticfactorsinpeoplethatinfluencethecourseofthedisease. Otherresearch hopes toidentifyvariationsinthegenomesofindividualswithHDthatmaypointtonewtargetsfordiseaseinterventionandtherapy.  InformationfromtheNationalLibraryofMedicine’sMedlinePlus Huntington'sDisease × Whatresearchisbeingdone? AmajorfocusofresearchonHDistounderstandthetoxicityofmutanthuntinginproteintobraincellsandtodeveloppotentialdrugsforcounteractingit. TheHDgenediscovery,whichNINDS-fundedresearchhelpedtoidentify,isallowingscientiststorecruitindividualswhocarrytheHDgeneintoclinicalstudiesbeforetheybecomeill.Researchershopetounderstandhowthedefectivegeneaffectsvariousstructuresinthebrainandthebody'schemistryandmetabolism.Someoftheclinicalsymptomsinneurodegenerativediseasesmaybecausedbytheultimatemalfunctioningofneuronalcircuits. Scientistsareusingcutting-edgemethodssuchasoptogenetics(whereneuronsareactivatedorsilencedinthebrainsoflivinganimalsusinglightbeams)tostudy suchcircuitdefectsinHD.Scientistsarealsousingstemcellstostudydiseasemechanismsandtestpotentialtherapeuticdrugs. TheNINDS-fundedPREDICT-HDstudyaims toidentifybiomarkers(biologicalchangesthatcanbeusedtopredict,diagnose,ormonitoradisease)forHD.AlargeandrelatedNINDS-supportedstudyaimstoidentifyadditionalgeneticfactorsinpeoplethatinfluencethecourseofthedisease. Otherresearch hopes toidentifyvariationsinthegenomesofindividualswithHDthatmaypointtonewtargetsfordiseaseinterventionandtherapy.  InformationfromtheNationalLibraryofMedicine’sMedlinePlus Huntington'sDisease SeeMoreAboutResearch AmajorfocusofresearchonHDistounderstandthetoxicityofmutanthuntinginproteintobraincellsandtodeveloppotentialdrugsforcounteractingit. TheHDgenediscovery,whichNINDS-fundedresearchhelpedtoidentify,isallowingscientiststorecruitindividualswhocarrytheHDgeneintoclinicalstudiesbeforetheybecomeill.Researchershopetounderstandhowthedefectivegeneaffectsvariousstructuresinthebrainandthebody'schemistryandmetabolism.Someoftheclinicalsymptomsinneurodegenerativediseasesmaybecausedbytheultimatemalfunctioningofneuronalcircuits. Scientistsareusingcutting-edgemethodssuchasoptogenetics(whereneuronsareactivatedorsilencedinthebrainsoflivinganimalsusinglightbeams)tostudy suchcircuitdefectsinHD.Scientistsarealsousingstemcellstostudydiseasemechanismsandtestpotentialtherapeuticdrugs. TheNINDS-fundedPREDICT-HDstudyaims toidentifybiomarkers(biologicalchangesthatcanbeusedtopredict,diagnose,ormonitoradisease)forHD.AlargeandrelatedNINDS-supportedstudyaimstoidentifyadditionalgeneticfactorsinpeoplethatinfluencethecourseofthedisease. Otherresearch hopes toidentifyvariationsinthegenomesofindividualswithHDthatmaypointtonewtargetsfordiseaseinterventionandtherapy.  InformationfromtheNationalLibraryofMedicine’sMedlinePlus Huntington'sDisease ShowMore ShowLess SearchDisorders SEARCH Definition Treatment Prognosis ClinicalTrials Organizations Publications Definition Huntington'sdisease(HD)isaninheriteddisorderthatcausesbraincells,calledneurons,todieinvariousareasofthebrain,includingthosethathelptocontrolvoluntary(intentional)movement.Symptomsofthedisease,whichgetsprogressivelyworse,includeuncontrolledmovements(calledchorea),abnormalbodypostures,andchangesinbehavior,emotion,judgment,andcognition.PeoplewithHDalsodevelopimpairedcoordination,slurredspeech,anddifficultyfeedingandswallowing.HDtypicallybeginsbetweenages30and50.AnearlieronsetformcalledjuvenileHDoccursunderage20. Itssymptoms differsomewhatfromadultonsetHDandinclude rigidity,slowness,difficultyatschool,rapidinvoluntarymusclejerkscalledmyoclonus,andseizures.Morethan30,000AmericanshaveHD. Huntington’sdiseaseiscausedbyamutationinthegeneforaproteincalledhuntingtin.Thedefectcausesthecytosine,adenine,andguanine(CAG)buildingblocksofDNAtorepeatmanymoretimesthanisnormal.EachchildofaparentwithHDhasa50-50chanceofinheritingtheHDgene.Achildwho doesnotinherittheHDgene willnotdevelopthediseaseandgenerallycannotpassittosubsequentgenerations.ApersonwhoinheritstheHDgenewilleventuallydevelopthedisease.HDisgenerallydiagnosedbasedonagenetictest,medicalhistory,brainimaging,andneurologicalandlaboratorytests. × Definition Huntington'sdisease(HD)isaninheriteddisorderthatcausesbraincells,calledneurons,todieinvariousareasofthebrain,includingthosethathelptocontrolvoluntary(intentional)movement.Symptomsofthedisease,whichgetsprogressivelyworse,includeuncontrolledmovements(calledchorea),abnormalbodypostures,andchangesinbehavior,emotion,judgment,andcognition.PeoplewithHDalsodevelopimpairedcoordination,slurredspeech,anddifficultyfeedingandswallowing.HDtypicallybeginsbetweenages30and50.AnearlieronsetformcalledjuvenileHDoccursunderage20. Itssymptoms differsomewhatfromadultonsetHDandinclude rigidity,slowness,difficultyatschool,rapidinvoluntarymusclejerkscalledmyoclonus,andseizures.Morethan30,000AmericanshaveHD. Huntington’sdiseaseiscausedbyamutationinthegeneforaproteincalledhuntingtin.Thedefectcausesthecytosine,adenine,andguanine(CAG)buildingblocksofDNAtorepeatmanymoretimesthanisnormal.EachchildofaparentwithHDhasa50-50chanceofinheritingtheHDgene.Achildwho doesnotinherittheHDgene willnotdevelopthediseaseandgenerallycannotpassittosubsequentgenerations.ApersonwhoinheritstheHDgenewilleventuallydevelopthedisease.HDisgenerallydiagnosedbasedonagenetictest,medicalhistory,brainimaging,andneurologicalandlaboratorytests. ViewFullDefinition Treatment ThereisnotreatmentthatcanstoporreversethecourseofHD.TetrabenazineanddeuterabenazinecantreatchoreaassociatedwithHD.  Antipsychoticdrugsmayeasechoreaand helptocontrolhallucinations,delusions,andviolentoutbursts.Drugsmaybeprescribedtotreatdepressionandanxiety.SideeffectsofdrugsusedtotreatthesymptomsofHDmay includefatigue,sedation,decreasedconcentration,restlessness,orhyperexcitability,andshouldbeonlyusedwhensymptomscreateproblemsfortheindividual. × Treatment ThereisnotreatmentthatcanstoporreversethecourseofHD.TetrabenazineanddeuterabenazinecantreatchoreaassociatedwithHD.  Antipsychoticdrugsmayeasechoreaand helptocontrolhallucinations,delusions,andviolentoutbursts.Drugsmaybeprescribedtotreatdepressionandanxiety.SideeffectsofdrugsusedtotreatthesymptomsofHDmay includefatigue,sedation,decreasedconcentration,restlessness,orhyperexcitability,andshouldbeonlyusedwhensymptomscreateproblemsfortheindividual. ViewFullTreatmentInformation Definition Huntington'sdisease(HD)isaninheriteddisorderthatcausesbraincells,calledneurons,todieinvariousareasofthebrain,includingthosethathelptocontrolvoluntary(intentional)movement.Symptomsofthedisease,whichgetsprogressivelyworse,includeuncontrolledmovements(calledchorea),abnormalbodypostures,andchangesinbehavior,emotion,judgment,andcognition.PeoplewithHDalsodevelopimpairedcoordination,slurredspeech,anddifficultyfeedingandswallowing.HDtypicallybeginsbetweenages30and50.AnearlieronsetformcalledjuvenileHDoccursunderage20. Itssymptoms differsomewhatfromadultonsetHDandinclude rigidity,slowness,difficultyatschool,rapidinvoluntarymusclejerkscalledmyoclonus,andseizures.Morethan30,000AmericanshaveHD. Huntington’sdiseaseiscausedbyamutationinthegeneforaproteincalledhuntingtin.Thedefectcausesthecytosine,adenine,andguanine(CAG)buildingblocksofDNAtorepeatmanymoretimesthanisnormal.EachchildofaparentwithHDhasa50-50chanceofinheritingtheHDgene.Achildwho doesnotinherittheHDgene willnotdevelopthediseaseandgenerallycannotpassittosubsequentgenerations.ApersonwhoinheritstheHDgenewilleventuallydevelopthedisease.HDisgenerallydiagnosedbasedonagenetictest,medicalhistory,brainimaging,andneurologicalandlaboratorytests. Treatment ThereisnotreatmentthatcanstoporreversethecourseofHD.TetrabenazineanddeuterabenazinecantreatchoreaassociatedwithHD.  Antipsychoticdrugsmayeasechoreaand helptocontrolhallucinations,delusions,andviolentoutbursts.Drugsmaybeprescribedtotreatdepressionandanxiety.SideeffectsofdrugsusedtotreatthesymptomsofHDmay includefatigue,sedation,decreasedconcentration,restlessness,orhyperexcitability,andshouldbeonlyusedwhensymptomscreateproblemsfortheindividual. Prognosis Huntington’sdiseasecausesdisabilitythatgetsworseovertime.Currentlynotreatmentisavailabletoslow,stop,orreversethecourseofHD.  PeoplewithHD usuallydiewithin10to30yearsfollowingsymptomonset,most commonlyfrom infections(mostoftenpneumonia)andinjuriesrelatedtofalls. x Prognosis Huntington’sdiseasecausesdisabilitythatgetsworseovertime.Currentlynotreatmentisavailabletoslow,stop,orreversethecourseofHD.  PeoplewithHD usuallydiewithin10to30yearsfollowingsymptomonset,most commonlyfrom infections(mostoftenpneumonia)andinjuriesrelatedtofalls. ViewFullPrognosis ClinicalTrials ThroughouttheU.S.andWorldwide NINDSClinicalTrials Prognosis Huntington’sdiseasecausesdisabilitythatgetsworseovertime.Currentlynotreatmentisavailabletoslow,stop,orreversethecourseofHD.  PeoplewithHD usuallydiewithin10to30yearsfollowingsymptomonset,most commonlyfrom infections(mostoftenpneumonia)andinjuriesrelatedtofalls. ClinicalTrials ThroughouttheU.S.andWorldwide NINDSClinicalTrials RelatedInformation PatientOrganizations HereditaryDiseaseFoundation Huntington'sDiseaseSocietyofAmerica Seeallrelatedorganizations Publications Huntington'sDisease:HopeThroughResearch AninformationbookletonHuntington'sdiseasecompiledbytheNationalInstituteofNeurologicalDisordersandStroke(NINDS). EnfermedaddeHuntington OrderNINDSPublications PatientOrganizations HereditaryDiseaseFoundation Huntington'sDiseaseSocietyofAmerica Seeallrelatedorganizations Publications Huntington'sDisease:HopeThroughResearch AninformationbookletonHuntington'sdiseasecompiledbytheNationalInstituteofNeurologicalDisordersandStroke(NINDS). EnfermedaddeHuntington OrderNINDSPublications Definition Huntington'sdisease(HD)isaninheriteddisorderthatcausesbraincells,calledneurons,todieinvariousareasofthebrain,includingthosethathelptocontrolvoluntary(intentional)movement.Symptomsofthedisease,whichgetsprogressivelyworse,includeuncontrolledmovements(calledchorea),abnormalbodypostures,andchangesinbehavior,emotion,judgment,andcognition.PeoplewithHDalsodevelopimpairedcoordination,slurredspeech,anddifficultyfeedingandswallowing.HDtypicallybeginsbetweenages30and50.AnearlieronsetformcalledjuvenileHDoccursunderage20. Itssymptoms differsomewhatfromadultonsetHDandinclude rigidity,slowness,difficultyatschool,rapidinvoluntarymusclejerkscalledmyoclonus,andseizures.Morethan30,000AmericanshaveHD. Huntington’sdiseaseiscausedbyamutationinthegeneforaproteincalledhuntingtin.Thedefectcausesthecytosine,adenine,andguanine(CAG)buildingblocksofDNAtorepeatmanymoretimesthanisnormal.EachchildofaparentwithHDhasa50-50chanceofinheritingtheHDgene.Achildwho doesnotinherittheHDgene willnotdevelopthediseaseandgenerallycannotpassittosubsequentgenerations.ApersonwhoinheritstheHDgenewilleventuallydevelopthedisease.HDisgenerallydiagnosedbasedonagenetictest,medicalhistory,brainimaging,andneurologicalandlaboratorytests. Treatment ThereisnotreatmentthatcanstoporreversethecourseofHD.TetrabenazineanddeuterabenazinecantreatchoreaassociatedwithHD.  Antipsychoticdrugsmayeasechoreaand helptocontrolhallucinations,delusions,andviolentoutbursts.Drugsmaybeprescribedtotreatdepressionandanxiety.SideeffectsofdrugsusedtotreatthesymptomsofHDmay includefatigue,sedation,decreasedconcentration,restlessness,orhyperexcitability,andshouldbeonlyusedwhensymptomscreateproblemsfortheindividual. Prognosis Huntington’sdiseasecausesdisabilitythatgetsworseovertime.Currentlynotreatmentisavailabletoslow,stop,orreversethecourseofHD.  PeoplewithHD usuallydiewithin10to30yearsfollowingsymptomonset,most commonlyfrom infections(mostoftenpneumonia)andinjuriesrelatedtofalls. Whatresearchisbeingdone? AmajorfocusofresearchonHDistounderstandthetoxicityofmutanthuntinginproteintobraincellsandtodeveloppotentialdrugsforcounteractingit. TheHDgenediscovery,whichNINDS-fundedresearchhelpedtoidentify,isallowingscientiststorecruitindividualswhocarrytheHDgeneintoclinicalstudiesbeforetheybecomeill.Researchershopetounderstandhowthedefectivegeneaffectsvariousstructuresinthebrainandthebody'schemistryandmetabolism.Someoftheclinicalsymptomsinneurodegenerativediseasesmaybecausedbytheultimatemalfunctioningofneuronalcircuits. Scientistsareusingcutting-edgemethodssuchasoptogenetics(whereneuronsareactivatedorsilencedinthebrainsoflivinganimalsusinglightbeams)tostudy suchcircuitdefectsinHD.Scientistsarealsousingstemcellstostudydiseasemechanismsandtestpotentialtherapeuticdrugs. TheNINDS-fundedPREDICT-HDstudyaims toidentifybiomarkers(biologicalchangesthatcanbeusedtopredict,diagnose,ormonitoradisease)forHD.AlargeandrelatedNINDS-supportedstudyaimstoidentifyadditionalgeneticfactorsinpeoplethatinfluencethecourseofthedisease. Otherresearch hopes toidentifyvariationsinthegenomesofindividualswithHDthatmaypointtonewtargetsfordiseaseinterventionandtherapy.  InformationfromtheNationalLibraryofMedicine’sMedlinePlus Huntington'sDisease ClinicalTrials ThroughouttheU.S.andWorldwide NINDSClinicalTrials PatientOrganizations HereditaryDiseaseFoundation 601West168thStreet,Suite54 NewYork NY NewYork,NY10032 [email protected] http://www.hdfoundation.org Tel:212-928-2121 Huntington'sDiseaseSocietyofAmerica 505EighthAvenue Suite902 NewYork NY NewYork,NY10018 [email protected] https://hdsa.org Tel:212-242-1968;800-345-HDSA(4372) Seeallrelatedorganizations Publications Huntington'sDisease:HopeThroughResearch AninformationbookletonHuntington'sdiseasecompiledbytheNationalInstituteofNeurologicalDisordersandStroke(NINDS). EnfermedaddeHuntington PatientOrganizations HereditaryDiseaseFoundation 601West168thStreet,Suite54 NewYork NY NewYork,NY10032 [email protected] http://www.hdfoundation.org Tel:212-928-2121 Huntington'sDiseaseSocietyofAmerica 505EighthAvenue Suite902 NewYork NY NewYork,NY10018 [email protected] https://hdsa.org Tel:212-242-1968;800-345-HDSA(4372) Seeallrelatedorganizations Datelastmodified:Mon,2019-11-1822:16