6 Most Common Hereditary Diseases - Healthgrades

A hereditary disease is often described as something that “runs in the family.” It is passed down from one or both parents to a child, ... RightCare SymptomsandConditions ViewAllSymptomsandConditionsArticles 6MostCommonHereditaryDiseases By  SusanFishman,NCC,CRC LastUpdated:May5,2020 Wasthishelpful? 847 Twitter Facebook LinkedIn Ahereditarydiseaseisoftendescribedassomethingthat“runsinthefamily.”Itispasseddownfromoneorbothparentstoachild,whomaythenpassittohisorherchildren.Becausehereditarydiseasesarecausedbygeneticmutations,youmayseetheterms“hereditary”and“genetic”usedinterchangeablywhenreferringtoinheriteddisease.Butwhileageneticdiseaseisalsotheresultofagenemutation,itmayormaynotbehereditary.Thesemutationsoccureitherrandomlyorduetoanenvironmentalfactor.Theyarenotpasseddownfromparenttochild,asisthecasewithahereditarydisease. 1 SickleCellDisease Sicklecelldiseaseisahereditarydiseasecausedbymutationsinoneofthegenesthatencodethehemoglobinprotein.Redbloodcellswiththeabnormalhemoglobinproteintakeonasickleshape.Thediseaseleadstochronicanemiaandsignificantdamagetotheheart,lungsandkidneys.SicklecelldiseaseisthemostcommoninheritedblooddisorderintheUnitedStates,affectingaround100,000Americans,mostcommonlyinAfricanAmericans.Thereisa25%chancethatachildwillbebornwithsicklecelldiseaseifbothparentshavethedefectivegene.Ifachildinheritsonlyonecopyofthedefectivegene(fromeitherparent),typicallyheorshewon’tgetthedisease,butthereisa50%chancethatthechildwillcarrythesicklecelltrait. 2 CysticFibrosis Cysticfibrosis(CF)iscausedbyagenemutationthataffectsthecellsthatproducemucus,sweat,anddigestivejuices.Themucusbecomesthickandsticky,causingseveredamagetotherespiratory,digestiveandreproductivesystems.Childrenwhoinheritonlyonecopyofthedefectivegenearecarrierswhocouldpassthegeneontotheirownchildren.Butchildrenwhoinherittwocopiesofthedefectivegene—onecopyfromeachparent—willdevelopcysticfibrosis.ThediseaseismostcommoninwhitepeopleofNorthernEuropeanancestry. 3 Tay-Sachs Tay-Sachsdisease(TSD)isafatalgeneticdisorderthatresultsinprogressivedestructionofthenervoussystem.Itiscausedbygenedefectsthatleadtotheabsenceofavitalenzymecalledhexosaminidase-A(Hex-A).Carriersofthedefectivegenehavea50%chanceofpassingthegenetotheirchildren.Ifachildinheritsonedefectivegene,thechildisaTay-Sachscarrier.Ifthechildreceivesadefectivegenefrombothparents,thechildwillhavethedisease.TheincidenceofTay-SachsissignificantlyhigheramongpeopleofeasternEuropean(Ashkenazi)Jewishdescent. 4 Hemophilia Mostcommonamongmales,hemophiliaischaracterizedbyadeficiencyinbloodclottingleadingtoabnormalbleeding.ThehemophiliageneislocatedontheXchromosomethatencodesgender.SincemaleshaveanXandaYchromosome,theyinheritonlyonecopyoftheXchromosome(fromtheirmother).So,iftheirmotherisacarrierofthemutatedgene,theyhaveabetterchanceofinheritinghemophilia.FemaleshavetwoXchromosomes(onefromtheirmotherandonefromtheirfather),andoneusuallyhasanormalcopyofthegene.Thismeansmostwomenwiththegenemutationarecarriers,buthavenosignsorsymptomsofthedisease. 5 Huntington’sDisease Huntington'sdiseaseisaninheritedconditionthatcomesoninmid-life.Itcausestheprogressivebreakdownofnervecellsinthebrain,leadingtoalossofbrainandmusclefunction.Causedbyaninheriteddefectinasinglegene,thediseaseisanautosomaldominantdisorder,whichmeansthatapersonneedsonlyonecopyofthedefectivegenetodevelopthedisorder.Eachparentwithadefectivegenecouldpassalongeitheradefectivecopyorahealthycopy,leavingachildwitha50%chanceofinheritingthedisease. 6 MuscularDystrophy Inmusculardystrophy,defectivegenesinterferewiththeproductionofproteinsnecessaryforhealthymuscledevelopment.Suchsymptomsasprogressivemuscleweaknessandlossofmusclemassoftenbegininchildhood,thoughthediseasecanaffectallages,andallraces.Thereareseveraltypesofmusculardystrophy,butthemostcommonform,Duchenne,usuallyoccursinyoungboys.Mostformsareinherited,sopeoplewithafamilyhistoryofthediseaseareatahigherriskofdevelopingit. Wasthishelpful? 847 SymptomsandConditions AboutTheAuthor SusanFishman,NCC,CRC SusanFishman,NCC,CRCisaveteranfreelancewriterwithmorethan25yearsofexperienceinhealtheducation,andaknackforturningcomplexmedicaljargonintosomethingtheaveragereadercanunderstand.HerworkhasbeenfeaturedinTheWashingtonPostandHuffPost,andonnumerousothernationalhealth,wellnessandparentingsites.SheisalsoaNationalCertifiedCounselorandClinicalRehabilitationCounselor,addingmentalhealthandwellnesstoherareaofexpertise. MedicalReviewer: WilliamC.LloydIII,MD,FACS LastReviewDate:2020May5 ViewAllSymptomsandConditionsArticles THISTOOLDOESNOTPROVIDEMEDICALADVICE.Itisintendedforinformationalpurposesonly.Itisnotasubstituteforprofessionalmedicaladvice,diagnosisortreatment.Neverignoreprofessionalmedicaladviceinseekingtreatmentbecauseofsomethingyouhavereadonthesite.Ifyouthinkyoumayhaveamedicalemergency,immediatelycallyourdoctorordial911. ViewSources Whatdoesitmeanifadisorderseemstoruninmyfamily?NIH.U.S.NationalLibraryofMedicine.GeneticsHomeReference.https://ghr.nlm.nih.gov/primer/inheritance/runsinfamilyGeneticDisorders.NIH.NationalHumanGenomeResearchInstitute.https://www.genome.gov/For-Patients-and-Families/Genetic-DisordersAboutTaySachsDisease.NIH.NationalHumanGenomeResearchInstitute.https://www.genome.gov/Genetic-Disorders/Tay-Sachs-DiseaseAboutSickleCellDisease.NIH.NationalHumanGenomeResearchInstitute.https://www.genome.gov/Genetic-Disorders/Sickle-Cell-DiseaseHuntington’sDisease.MayoClinic.https://www.mayoclinic.org/diseases-conditions/huntingtons-disease/symptoms-causes/syc-20356117Cysticfibrosis.MayoClinic.https://www.mayoclinic.org/diseases-conditions/cystic-fibrosis/symptoms-causes/syc-20353700Hemophilia.NIH.NationalHumanGenomeResearchInstitute.https://www.genome.gov/genetics-glossary/hemophiliaHemophilia.MayoClinic.https://www.mayoclinic.org/diseases-conditions/hemophilia/symptoms-causes/syc-20373327MuscularDystrophy.MayoClinic.https://www.mayoclinic.org/diseases-conditions/muscular-dystrophy/symptoms-causes/syc-20375388 ExploreSymptomsandConditions SymptomsandConditions WhatIsChronicFatigueSyndrome? 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