Genetic Disorders: What Are They, Types, Symptoms & Causes

Genetic disorders occur when a mutation (a harmful change to a gene, also known as a pathogenic variant) affects your genes or when you have ... ThinkyoumayhaveCOVID-19? Findoutwhereyoucangettested Needavaccineorbooster? Scheduletoday ComingtoaClevelandCliniclocation? Visitationandmaskrequirements Home / HealthLibrary / Disease&Conditions GeneticDisorders Geneticdisordersoccurwhenamutationaffectsyourgenes.Carryingthemutationdoesn’talwaysmeanyou’llendupwithadisease.Therearemanytypes,includingsingle-gene,multifactorialandchromosomaldisorders. Appointments&Access ContactUs Overview SymptomsandCauses DiagnosisandTests ManagementandTreatment Prevention Outlook/Prognosis LivingWith GeneticDisorders Overview SymptomsandCauses DiagnosisandTests ManagementandTreatment Prevention Outlook/Prognosis LivingWith BackToTop Overview Whataregeneticdisorders? Geneticdisordersoccurwhenamutation(aharmfulchangetoagene,alsoknownasapathogenicvariant)affectsyourgenesorwhenyouhavethewrongamountofgeneticmaterial.GenesaremadeofDNA(deoxyribonucleicacid),whichcontaininstructionsforcellfunctioningandthecharacteristicsthatmakeyouunique. Youreceivehalfyourgenesfromeachbiologicalparentandmayinheritagenemutationfromoneparentorboth.SometimesgeneschangeduetoissueswithintheDNA(mutations).Thiscanraiseyourriskofhavingageneticdisorder.Somecausesymptomsatbirth,whileothersdevelopovertime. Geneticdisorderscanbe: Chromosomal:Thistypeaffectsthestructuresthatholdyourgenes/DNAwithineachcell(chromosomes).Withtheseconditions,peoplearemissingorhaveduplicatedchromosomematerial. Complex(multifactorial):Thesedisordersstemfromacombinationofgenemutationsandotherfactors.Theyincludechemicalexposure,diet,certainmedicationsandtobaccooralcoholuse. Single-gene(monogenic):Thisgroupofconditionsoccursfromasinglegenemutation. Whatarecommongeneticdisorders? Therearemanytypes.Theyinclude: Chromosomaldisorders Downsyndrome(Trisomy21). FragileXsyndrome. Klinefeltersyndrome. Triple-Xsyndrome. Turnersyndrome. Trisomy18. Trisomy13. Multifactorialdisorders Late-onsetAlzheimer’sdisease. Arthritis. Autismspectrumdisorder,inmostcases. Cancer,inmostcases. Coronaryarterydisease. Diabetes. Migraineheadaches. Spinabifida. Isolatedcongenitalheartdefects. Monogenicdisorders Cysticfibrosis. Deafnessthat’spresentatbirth(congenital). Duchennemusculardystrophy. Familialhypercholesterolemia,atypeofhighcholesteroldisease. Hemochromatosis(ironoverload). Neurofibromatosistype1(NF1). Sicklecelldisease. Tay-Sachsdisease. Arethereothertypesofgeneticdisorders? Geneticdisordersmayalsocauserarediseases.Thisgroupofconditionsaffectsfewerthan200,000peopleintheU.S.Accordingtoexperts,theremaybeasmanyas7,000ofthesediseases. Raregeneticdisordersinclude: AAamyloidosis. Adrenoleukodystrophy(ALD). Ehlers-Danlossyndrome. Mitochondrialdiseases. Ushersyndrome. SymptomsandCauses Whatarethecausesofgeneticdisorders? Tounderstandgeneticdisordercauses,it’shelpfultolearnmoreabouthowyourgenesandDNAwork.MostoftheDNAinyourgenesinstructsthebodytomakeproteins.Theseproteinsstartcomplexcellinteractionsthathelpyoustayhealthy. Whenamutationoccurs,itaffectsthegenes’protein-makinginstructions.Therecouldbemissingproteins.Ortheonesyouhavedonotfunctionproperly.Environmentalfactors(alsocalledmutagens)thatcouldleadtoageneticmutationinclude: Chemicalexposure. Radiationexposure. Smoking. UVexposurefromthesun. Whatarethesymptomsofgeneticdisorders? Symptomsvarydependingonthetypeofdisorder,organsaffectedandhowsevereitis.Youmayexperience: Behavioralchangesordisturbances. Breathingproblems. Cognitivedeficits,whenthebraincan’tprocessinformationasitshould. Developmentaldelaysthatincludechallengeswithspeechorsocialskills. Eatinganddigestiveissues,suchasdifficultyswallowingoraninabilitytoprocessnutrients. Limborfacialanomalies,whichincludemissingfingersoracleftlipandpalate. Movementdisordersduetomusclestiffnessorweakness. Neurologicalissuessuchasseizuresorstroke. Poorgrowthorshortstature. Visionorhearingloss. DiagnosisandTests Howaregeneticdisordersidentified? Ifyouhaveafamilyhistoryofageneticdisorder,youmaywishtoconsidergeneticcounselingtoseeifgenetictestingisappropriateforyou.Labtestscantypicallyshowwhetheryouhavegenemutationsresponsibleforthatcondition.Inmanycases,carryingthemutationdoesnotalwaysmeanyou’llendupwithit.Geneticcounselorscanexplainyourriskandiftherearestepsyoucantaketoprotectyourhealth. Ifthere’safamilyhistory,DNAtestingforgeneticdisorderscanbeanimportantpartofstartingafamily.Optionsinclude: Carriertesting:Thisbloodtestshowswhetheryouoryourpartnercarryamutationlinkedtogeneticdisorders.Thisisrecommendedforeveryoneconsideringpregnancy,evenifthereisnofamilyhistory. Prenatalscreening:Thistestingusuallyinvolvesbloodtestingfromapregnantwomanthattellsapersonhowlikelyitisthatanunbornchildcouldhaveacommonchromosomecondition. Prenataldiagnostictesting:Youcanfindoutwhetheryourunbornchildfacesahigherriskforcertaingeneticdisorders.Prenataltestingusesasampleoffluidfromthewomb(amniocentesis). Newbornscreening:Thistestusesasampleofyournewbornbaby’sbloodandisperformedonallbabiesborninOhio.Detectinggeneticdisordersearlyinlifecanhelpyourchildreceivetimelycareifneeded. ManagementandTreatment Whatistreatmentforgeneticdisorderslike? Mostgeneticdisordersdonothaveacure.Somehavetreatmentsthatmayslowdiseaseprogressionorlessentheirimpactonyourlife.Thetypeoftreatmentthat’srightforyoudependsonthetypeandseverityofthedisease.Withothers,wemaynothavetreatmentbutwecanprovidemedicalsurveillancetotrytocatchcomplicationsearly. Youmayneed: Medicationstomanagesymptomsorchemotherapytoslowabnormalcellgrowth. Nutritioncounselingordietarysupplementstohelpyougetthenutrientsyourbodyneeds. Physical,occupationalorspeechtherapytomaximizeyourabilities. Bloodtransfusiontorestorelevelsofhealthybloodcells. Surgerytorepairabnormalstructuresortreatcomplications. Specializedtreatments,suchasradiationtherapyforcancer. Organtransplant,whichisaproceduretoreplaceanonfunctioningorganwithonefromahealthydonor. Prevention HowcanIpreventageneticdisorder? Thereisoftenlittleyoucandotopreventageneticdisorder.Butgeneticcounselingandtestingcanhelpyoulearnmoreaboutyourrisk.Itcanalsoletyouknowthelikelihoodofpassingsomedisordersontoyourchildren. Outlook/Prognosis Whatistheoutlookforpeoplewithgeneticdisorders? Someconditions,includingcertainrareandcongenitaldiseases,haveagrimprognosis.Childrenbornwithanencephalytypicallysurviveonlyafewdays.Otherconditions,likeanisolatedcleftlip,donotaffectlifespan.Butyoumayneedregular,specializedcaretostaycomfortable. LivingWith WhatdoIneedtoknowaboutlivingwithageneticdisorder? Whenyouarelivingwithageneticdisorder,youmayhavefrequentmedicalneeds.It’simportanttoseeahealthcareproviderspecializinginthecondition.Theyaremorelikelytoknowwhichtreatmentsarebestforyourneeds. Youmayalsobenefitfromthesupportofothers.Geneticdisordersoftenhavelocalornationalsupportgroups.Theseorganizationscanhelpyouaccessresourcesthatmakelifealittleeasier.Theymayalsohosteventswhereyoucanmeetotherfamiliesgoingthroughsimilarchallenges. AnotefromClevelandClinic Geneticdisordersoccurwhenamutationaffectsyourgenesorchromosomes.Somedisorderscausesymptomsatbirth,whileothersdevelopovertime.Genetictestingcanhelpyoulearnmoreaboutthelikelihoodofexperiencingageneticdisorder.Ifyouoralovedonehaveageneticdisorder,it’simportanttoseekcarefromanexperiencedspecialist.Youmaybeabletogetadditionalinformationandhelpfromsupportgroups. 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