Ataxia oculomotor apraxia type 4 | Apraxia type
Ataxia-oculomotor apraxia type 4. Disease definition. A rare autosomal recessive cerebellar ataxia characterized by onset of dystonia and other ...xShareShareRarediseasesSearchClinicalSignsandSymptomsClassificationsGenesDisabilityEncyclopaediaforpatientsEncyclopaediaforprofessionalsEmergencyguidelinesSources/proceduresHomepageRarediseasesSearchSearchforararedisease*(*)mandatoryfieldSearchDiseasenameORPHAcodeOMIMICD-10GenenameorsymbolOthersearchoption(s)AlphabeticallistSuggestanupdate(*)Requiredfields.Youare(*)Choose:HealthprofessionalPatient/Family/AssociationBiopharmaceuticalindustryScientistStudentOtherIfyouhaveselectedtheOthercategory,pleasespecifywhichtypeofuseryouare:*Emailaddress:*Topicofyourcomment*EpidemiologydataSummaryandrelatedtextsRelatedgenesClinicalsignsNomenclatureand/orcodingYourmessage*(3000charactersremaining)AttentionOnlycommentsseekingtoimprovethequalityandaccuracyofinformationontheOrphanetwebsiteareaccepted.Forallothercomments,pleasesendyourremarksviacontactus.OnlycommentswritteninEnglishcanbeprocessed.Orphanetdoesn'tprovidepersonalisedanswers.TogetintouchwiththeOrphanetteam,pleasecontactInformationprovidedinyourcontribution(includingyouremailaddress)willbestockedin.CSVfilesthatwillbesentasanemailtoOrphanet'steams.Theseemailsmightbeconservedintheteams'mailboxes,inourbackofficeserversbutwillnotberegisteredinourdatabases(formoreinformationseeoursectionGeneralDataProtectionRegulationanddataprivacy(GDPR)andConfidentiality).CheckthisboxifyouwishtoreceiveacopyofyourmessagePleasereproducethetextbelow:*Ataxia-oculomotorapraxiatype4DiseasedefinitionArareautosomalrecessivecerebellarataxiacharacterizedbyonsetofdystoniaandotherextrapyramidalsigns,ataxia,oculomotorapraxia,andprogressivesensorimotorpolyneuropathyinthefirstdecadeoflife.Patientspresentdistalmuscleweaknessandatrophy,decreasedvibratorysensation,andareflexia,andusuallybecomewheelchair-boundbythethirddecade.Variablecognitiveimpairmentmayalsobeseen.ORPHA:459033Classificationlevel:DisorderSynonym(s