Ataxia with oculomotor apraxia | Apraxia type

The types are very similar but are caused by mutations in different genes. Type 1 begins around age 4. In addition to ataxia and oculomotor apraxia, affected ...YouAreHere:Home→Genetics→GeneticConditions→AtaxiawithoculomotorapraxiaURLofthispage:https://medlineplus.gov/genetics/condition/ataxia-with-oculomotor-apraxia/AtaxiawithoculomotorapraxiaFromGeneticsHomeReference.LearnmoreDescriptionAtaxiawithoculomotorapraxiaisaconditioncharacterizedbyproblemswithmovementthatworsenovertime.Thehallmarkofthisconditionispoorcoordinationandbalance(ataxia),whichisoftenthefirstsymptom.Mostaffectedpeoplealsohaveoculomotorapraxia,whichmakesitdifficulttomovetheireyesside-to-side.Peoplewithoculomotorapraxiahavetoturntheirheadtoseethingsintheirside(peripheral)vision.Thereareseveraltypesofataxiawithoculomotorapraxia,themostcommonofwhicharetypes1,2,and4.Thetypesareverysimilarbutarecausedbymutationsindifferentgenes.Type1beginsaroundage4.Inadditiontoataxiaandoculomotorapraxia,affectedindividualscanhaveinvoluntaryjerkingmovements(chorea)ormuscletwitches(myoclonus);thesemovementproblemstendtodisappearovertime.Individualswiththistypemayalsodevelopmusclewastingintheirhandsandfeet,whichfurtherimpairsmovement.Asinallformsofataxiawithoculomotorapraxia,nearlyallpeoplewithtype1developnerveabnormalities(neuropathy).Neuropathyimpairsreflexesandleadstolimbweaknessandaninabilitytosensevibrations.Manyindividualswithataxiawithoculomotorapraxiarequirewheelchairassistance,typically10to15yearsafterthestartofmovementproblems.Peoplewithsometypesofataxiawithoculomotorapraxiamayhavecharacteristicbloodabnormalities.Individualswithtype1tendtohavereducedamountsofaproteincalledalbumin,whichtransportsmoleculesintheblood.Theshortageofalbuminlikelyresultsinelevatedlevelsofcholesterolcirculatinginthebloodstream.Increasedcholesterollevelsraiseaperson'sriskofdevelopingheartdisease.Ataxiawithoculomotorapraxiatype2usuallybeginsaroundage15.Asintype1,affectedindividualsmayhavechoreaormyoclonus,althoughthesemovementproblemsper


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