{"orpha":1186,"name":"Infantile-onset spinocerebellar ataxia","type":"Disease","group":"Disorder","status":"active","flags":[],"synonyms":["IOSCA","Ohaha syndrome","Ophthalmoplegia-hypotonia-ataxia-hypoacusis-athetosis syndrome"],"definition":"Infantile-onset spinocerebellar ataxia (IOSCA) is a hereditary neurological disorder with early and severe involvement of both the peripheral and central nervous systems. It has only been described in Finnish families.","note":null,"url":"https://raremap.alftech.space/d/ORPHA-1186/","orphanet_url":"https://www.orpha.net/en/disease/detail/1186","names":{"fr":{"name":"Ataxie spinocérébelleuse infantile","synonyms":["Syndrome Ohaha","Syndrome d'ophtalmoplégie-hypotonie-ataxie-hypoacousie-athétose"],"definition":"L'ataxie spinocérébelleuse infantile (ASI) est une maladie neurologique héréditaire caractérisée par une atteinte précoce et sévère du système nerveux périphérique et central."},"de":{"name":"Ataxie, infantile spinozerebelläre","synonyms":["IOSCA","Ohaha-Syndrom","Ophtalmoplegie-Hypotonie-Ataxie-Hypoakusis-Atethose-Syndrom"],"definition":"Die Infantile spinozerebelläre Ataxie (IOSCA) ist eine erbliche neurologische Erkrankung mit früher und schwerer Beteiligung des peripheren und zentralen Nervensystems. Sie wurde bisher nur in finnischen Familien beschrieben."},"es":{"name":"Ataxia espinocerebelosa de inicio en el lactante","synonyms":["IOSCA","Oftalmoplejía-ataxia-hipoacusia","Síndrome de Ohaha"],"definition":"La ataxia espinocerebelosa infantil es una enfermedad neurológica hereditaria caracterizada por una alteración temprana y grave del sistema nervioso periférico y central. Se ha descrito sólo en familias finlandesas."},"it":{"name":"Atassia spinocerebellare a esordio infantile","synonyms":["IOSCA","Oftalmoplegia - atassia - ipoacusia","Sindrome di Ohaha"]},"nl":{"name":"Infantiele spinocerebellaire ataxie","synonyms":["IOSCA","OHAHA-syndroom","Oftalmoplegie - hypotonie - ataxie - hypoacousis - athetose-syndroom"],"definition":"Een erfelijke neurologische aandoening, met vroege en ernstige betrokkenheid van zowel perifeer als centraal zenuwstelsel. Infantiele spinocerebellaire ataxie (IOSCA) werd enkel beschreven bij Finse families."},"pt":{"name":"Ataxia espinocerebelosa de início na infância","synonyms":["IOSCA","Oftalmoplegia-ataxia-surdez","Síndrome Ohaha"],"definition":"A ataxia espinocerebelosa de início infantil (IOSCA) é uma doença neurológica hereditária com envolvimento precoce e grave do sistema nervoso periférico e central."},"pl":{"name":"Dziecięca ataksja rdzeniowo-mózdżkowa","synonyms":["IOSCA","Oftalmoplegia - hipotonia - ataksja - niedosłuch - atetoza","Zespół Ohaha"]},"cs":{"name":"Spinocerebelární ataxie s nástupem v dětském věku","synonyms":["IOSCA","OHAHA syndrom","Syndrom zahrnující oftalmoplegii, hypotonii, ataxii, hypakuzi a atetózu"]},"uk":{"name":"Інфантильна спіноцеребеллярна атаксія","synonyms":["IOSCA","Синдром Охаха","Синдром офтальмоплегії-гіпотонії-атаксії-гіпоакузії-атетозу"],"definition":"Infantile-onset spinocerebellar ataxia (IOSCA) is a hereditary neurological disorder with early and severe involvement of both the peripheral and central nervous systems. It has only been described in Finnish families."},"zh":{"name":"婴儿起病型脊髓小脑共济失调","synonyms":["眼外肌麻痹-肌张力低下-共济失调-听觉减退-手足徐动综合征"]},"tr":{"name":"İnfantil başlangıçlı spinoserebellar ataksi","synonyms":["IOSCA","Ohaha sendromu","Oftalmopleji-hipotoni-ataksi-hipoakuzi-atetoz sendromu"]}},"xrefs":[{"source":"OMIM","code":"271245","qualifier":"E","icd_relation":null,"validated":true},{"source":"ICD-10","code":"G11.1","qualifier":"NTBT","icd_relation":"attributed","validated":true},{"source":"ICD-11","code":"LD90.Y","qualifier":"NTBT","icd_relation":"index","validated":true,"icd11_uri":"1262541689"},{"source":"MONDO","code":"0010060","qualifier":"E","icd_relation":null,"validated":true},{"source":"MeSH","code":"C535523","qualifier":"E","icd_relation":null,"validated":true},{"source":"UMLS","code":"C1849096","qualifier":"E","icd_relation":null,"validated":true},{"source":"GARD","code":"4062","qualifier":"E","icd_relation":null,"validated":true}],"associations":[],"incoming_associations":[],"preferential_parent":{"orpha":98006,"name":"Rare neurologic disease"},"parents":[{"orpha":98098,"name":"Autosomal recessive degenerative and progressive cerebellar ataxia","classifications":[156,181]},{"orpha":254871,"name":"Mitochondrial DNA depletion syndrome, hepatocerebral form","classifications":[150,156,183]},{"orpha":68385,"name":"Neurometabolic disease","classifications":[156,181]}],"children":[],"genes":[{"symbol":"TWNK","name":"twinkle mtDNA helicase","gene_type":"gene with protein product","association":"Disease-causing germline mutation(s) in","status":"Assessed","source":"20301746[PMID]","hgnc":"1160","ensembl":"ENSG00000107815","omim":"606075","loci":["10q24.31"]}],"genes_via_subtypes":[],"inheritance":["Autosomal recessive"],"onset":["Infancy"],"prevalence":[{"type":"Cases/families","qualification":"Case(s)","class":null,"value":29.0,"area":"Worldwide","status":"Validated","source":"27551684[PMID]"},{"type":"Point prevalence","qualification":"Class only","class":"<1 / 1 000 000","value":0.0,"area":"Worldwide","status":"Validated","source":"ORPHANET_20301746[PMID]_27551684[PMID]"}],"phenotypes":{"validation_status":"y","online":"y","validation_date":"2016-06-01","source":null,"terms":[{"hpo":"HP:0100022","label":"Abnormality of movement","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0002270","label":"Abnormality of the autonomic nervous system","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0001251","label":"Ataxia","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0000365","label":"Hearing impairment","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0000602","label":"Ophthalmoplegia","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0000648","label":"Optic atrophy","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0001315","label":"Reduced tendon reflexes","frequency":"Very frequent (99-80%)","criteria":null}]}}