Ataxia oculomotor apraxia type 1 | Apraxia type
Ataxia-oculomotor apraxia type 1 (AOA1) represents 3.6% of all autosomal recessive cerebellar ataxia (ARCA) in Portugal; in Japan, AOA1 seems to be the most ...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-oculomotorapraxiatype1DiseasedefinitionArareautosomalrecessivecerebellarataxia,characterizedbyprogressivecerebellarataxiaassociatedwithoculomotorapraxia,severeneuropathy,andhypoalbuminemia.ORPHA:1168Classificationlevel:DisorderSynonym(s):AOA1Prevalence:UnknownInheritance:Autosomalrecessive Ageofonset:ChildhoodICD-10:G11.3OMIM:208920UMLS:C1859598MeSH:-GARD:9283MedDRA:-SummaryEpidemiologyAtaxia-oculomotorapraxiatype1(AOA1)represents3.6