Huntington's disease - Symptoms and causes - Mayo Clinic

Huntington's disease is a rare, inherited disease that causes the progressive breakdown (degeneration) of nerve cells in the brain. COVID-19:Advice,updatesandvaccineoptions Weareopenforsafein-personcare. Learnmore: MayoClinicfactsaboutcoronavirusdisease2019(COVID-19) OurCOVID-19patientandvisitorguidelines,plustrustedhealthinformation Lateston COVID-19vaccination bysite: Arizonapatientvaccinationupdates Arizona, Floridapatientvaccinationupdates Florida, Rochesterpatientvaccinationupdates Rochesterand MayoClinicHealthSystempatientvaccinationupdates MCHS Skiptositenavigation SkiptoContent ThiscontentdoesnothaveanEnglishversion.ThiscontentdoesnothaveanArabicversion. SectionsforHuntington'sdiseaseSymptoms&causesDiagnosis&treatmentDoctors&departmentsCareatMayoClinic Print OverviewHuntington'sdiseaseisarare,inheriteddiseasethatcausestheprogressivebreakdown(degeneration)ofnervecellsinthebrain.Huntington'sdiseasehasabroadimpactonaperson'sfunctionalabilitiesandusuallyresultsinmovement,thinking(cognitive)andpsychiatricdisorders. Huntington'sdiseasesymptomscandevelopatanytime,buttheyoftenfirstappearwhenpeopleareintheir30sor40s.Iftheconditiondevelopsbeforeage20,it'scalledjuvenileHuntington'sdisease.WhenHuntington'sdevelopsearly,symptomsaresomewhatdifferentandthediseasemayprogressfaster. MedicationsareavailabletohelpmanagethesymptomsofHuntington'sdisease.Buttreatmentscan'tpreventthephysical,mentalandbehavioraldeclineassociatedwiththecondition.Products&ServicesBook:MayoClinicFamilyHealthBook,5thEditionNewsletter:MayoClinicHealthLetter—DigitalEditionShowmoreproductsfromMayoClinic SymptomsHuntington'sdiseaseusuallycausesmovement,cognitiveandpsychiatricdisorderswithawidespectrumofsignsandsymptoms.Whichsymptomsappearfirstvariesgreatlyfrompersontoperson.Somesymptomsappearmoredominantorhaveagreatereffectonfunctionalability,butthatcanchangethroughoutthecourseofthedisease. MovementdisordersThemovementdisordersassociatedwithHuntington'sdiseasecanincludebothinvoluntarymovementproblemsandimpairmentsinvoluntarymovements,suchas: Involuntaryjerkingorwrithingmovements(chorea) Muscleproblems,suchasrigidityormusclecontracture(dystonia) Sloworabnormaleyemovements Impairedgait,postureandbalance Difficultywithspeechorswallowing Impairmentsinvoluntarymovements—ratherthantheinvoluntarymovements—mayhaveagreaterimpactonaperson'sabilitytowork,performdailyactivities,communicateandremainindependent. CognitivedisordersCognitiveimpairmentsoftenassociatedwithHuntington'sdiseaseinclude: Difficultyorganizing,prioritizingorfocusingontasks Lackofflexibilityorthetendencytogetstuckonathought,behaviororaction(perseveration) Lackofimpulsecontrolthatcanresultinoutbursts,actingwithoutthinkingandsexualpromiscuity Lackofawarenessofone'sownbehaviorsandabilities Slownessinprocessingthoughtsor''finding''words Difficultyinlearningnewinformation PsychiatricdisordersThemostcommonpsychiatricdisorderassociatedwithHuntington'sdiseaseisdepression.Thisisn'tsimplyareactiontoreceivingadiagnosisofHuntington'sdisease.Instead,depressionappearstooccurbecauseofinjurytothebrainandsubsequentchangesinbrainfunction.Signsandsymptomsmayinclude: Feelingsofirritability,sadnessorapathy Socialwithdrawal Insomnia Fatigueandlossofenergy Frequentthoughtsofdeath,dyingorsuicide Othercommonpsychiatricdisordersinclude: Obsessive-compulsivedisorder,aconditionmarkedbyrecurrent,intrusivethoughtsandrepetitivebehaviors Mania,whichcancauseelevatedmood,overactivity,impulsivebehaviorandinflatedself-esteem Bipolardisorder,aconditionwithalternatingepisodesofdepressionandmania Inadditiontotheabovedisorders,weightlossiscommoninpeoplewithHuntington'sdisease,especiallyasthediseaseprogresses. SymptomsofjuvenileHuntington'sdiseaseThestartandprogressionofHuntington'sdiseaseinyoungerpeoplemaybeslightlydifferentfromthatinadults.Problemsthatoftenpresentearlyinthecourseofthediseaseinclude: Behavioralchanges Difficultypayingattention Rapid,significantdropinoverallschoolperformance Behavioralproblems Physicalchanges Contractedandrigidmusclesthataffectgait(especiallyinyoungchildren) Tremorsorslightinvoluntarymovements Frequentfallsorclumsiness Seizures WhentoseeadoctorSeeyourdoctorifyounoticechangesinyourmovements,emotionalstateormentalability.ThesignsandsymptomsofHuntington'sdiseasecanbecausedbyanumberofdifferentconditions.Therefore,it'simportanttogetaprompt,thoroughdiagnosis. RequestanAppointmentatMayoClinic Causes Autosomaldominantinheritancepattern Openpop-updialogbox Close Autosomaldominantinheritancepattern Autosomaldominantinheritancepattern Inanautosomaldominantdisorder,themutatedgeneisadominantgenelocatedononeofthenonsexchromosomes(autosomes).Youneedonlyonemutatedgenetobeaffectedbythistypeofdisorder.Apersonwithanautosomaldominantdisorder—inthiscase,thefather—hasa50%chanceofhavinganaffectedchildwithonemutatedgene(dominantgene)anda50%chanceofhavinganunaffectedchildwithtwonormalgenes(recessivegenes). Huntington'sdiseaseiscausedbyaninheriteddefectinasinglegene.Huntington'sdiseaseisanautosomaldominantdisorder,whichmeansthatapersonneedsonlyonecopyofthedefectivegenetodevelopthedisorder. Withtheexceptionofgenesonthesexchromosomes,apersoninheritstwocopiesofeverygene—onecopyfromeachparent.Aparentwithadefectivegenecouldpassalongthedefectivecopyofthegeneorthehealthycopy.Eachchildinthefamily,therefore,hasa50%chanceofinheritingthegenethatcausesthegeneticdisorder. ComplicationsAfterHuntington'sdiseasestarts,aperson'sfunctionalabilitiesgraduallyworsenovertime.Therateofdiseaseprogressionanddurationvaries.Thetimefromdiseaseemergencetodeathisoftenabout10to30years.JuvenileHuntington'sdiseaseusuallyresultsindeathwithin10yearsaftersymptomsdevelop. TheclinicaldepressionassociatedwithHuntington'sdiseasemayincreasetheriskofsuicide.Someresearchsuggeststhatthegreaterriskofsuicideoccursbeforeadiagnosisismadeandinthemiddlestagesofthediseasewhenapersonstartstoloseindependence. Eventually,apersonwithHuntington'sdiseaserequireshelpwithallactivitiesofdailylivingandcare.Lateinthedisease,heorshewilllikelybeconfinedtoabedandunabletospeak.SomeonewithHuntington'sdiseaseisgenerallyabletounderstandlanguageandhasanawarenessoffamilyandfriends,thoughsomewon'trecognizefamilymembers. Commoncausesofdeathinclude: Pneumoniaorotherinfections Injuriesrelatedtofalls Complicationsrelatedtotheinabilitytoswallow Prevention Invitrofertilization Openpop-updialogbox Close Invitrofertilization Invitrofertilization Duringinvitrofertilization,eggsareremovedfrommaturefollicleswithinanovary(A).Aneggisfertilizedbyinjectingasinglespermintotheeggormixingtheeggwithsperminapetridish(B).Thefertilizedegg(embryo)istransferredintotheuterus(C). PeoplewithaknownfamilyhistoryofHuntington'sdiseaseareunderstandablyconcernedaboutwhethertheymaypasstheHuntingtongeneontotheirchildren.Thesepeoplemayconsidergenetictestingandfamilyplanningoptions. Ifanat-riskparentisconsideringgenetictesting,itcanbehelpfultomeetwithageneticcounselor.Ageneticcounselorwilldiscussthepotentialrisksofapositivetestresult,whichwouldindicatethattheparentwilldevelopthedisease.Also,coupleswillneedtomakeadditionalchoicesaboutwhethertohavechildrenortoconsideralternatives,suchasprenataltestingforthegeneorinvitrofertilizationwithdonorspermoreggs. Anotheroptionforcouplesisinvitrofertilizationandpreimplantationgeneticdiagnosis.Inthisprocess,eggsareremovedfromtheovariesandfertilizedwiththefather'ssperminalaboratory.TheembryosaretestedforpresenceoftheHuntingtongene,andonlythosetestingnegativefortheHuntingtongeneareimplantedinthemother'suterus. ByMayoClinicStaff Huntington'sdiseasecareatMayoClinic RequestanAppointmentatMayoClinic Diagnosis&treatment April14,2020 Print Shareon:FacebookTwitter Showreferences AskMayoExpert.HuntingtonDisease.MayoClinic;2019. Huntington'sdisease:Hopethroughresearch.NationalInstituteofNeurologicalDisordersandStroke.https://www.ninds.nih.gov/Disorders/Patient-Caregiver-Education/Hope-Through-Research/Huntingtons-Disease-Hope-Through.AccessedFeb.21,2020. FerriFF.Huntingtondisease.In:Ferri'sClinicalAdvisor2020.Elsevier;2020.https://www.clinicalkey.com.AccessedFeb.21,2020. Aphysician'sguidetothemanagementofHuntington'sdisease.Huntington'sDiseaseSocietyofAmerica.http://hdsa.org/shop/publications/.AccessedFeb.21,2020. NationalLibraryofMedicine.Huntingtondisease.GeneticsHomeReference.https://ghr.nlm.nih.gov/condition/huntington-disease.AccessedFeb.21,2020. SuchowerskyO.Huntingtondisease:Management.https://www.uptodate.com/contents/search.AccessedFeb.21,2020. RigginEA.AllScriptsEPSi.MayoClinic.Jan.30,2020. 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