{"orpha":208513,"name":"Spinocerebellar ataxia type 29","type":"Disease","group":"Disorder","status":"active","flags":[],"synonyms":["Congenital nonprogressive spinocerebellar ataxia","SCA29"],"definition":"An autosomal dominant cerebellar ataxia type I that is characterized by very slowly progressive or non-progressive ataxia, dysarthria, oculomotor abnormalities and intellectual disability.","note":null,"url":"https://raremap.alftech.space/d/ORPHA-208513/","orphanet_url":"https://www.orpha.net/en/disease/detail/208513","names":{"fr":{"name":"Ataxie spinocérébelleuse type 29","synonyms":["Ataxie spinocérébelleuse non progressive congénitale","SCA29"],"definition":"Ataxie cérébelleuse autosomique dominante type I caractérisée par une ataxie de progression très lente ou non-progressive, une dysarthrie, des anomalies oculomotrices et une déficience intellectuelle."},"de":{"name":"Ataxie, spinozerebelläre, Typ 29","synonyms":["Ataxie, kongenitale nonprogressive spinozerebelläre","SCA29"],"definition":"Spinozerebelläre Ataxie Typ 29 (SCA29) ist ein seltener Subtyp der autosomal-dominanten zerebellären Ataxie Typ 1 und ist durch sehr langsam oder nicht progrediente Ataxie, Dysarthrie, Auffälligkeiten der Okulomotorik und Intelligenzminderung charakterisiert."},"es":{"name":"Ataxia espinocerebelosa tipo 29","synonyms":["Ataxia espinocerebelosa no progresiva congénita","SCA29"],"definition":"Es un tipo de ataxia cerebelosa autosómica dominante de tipo I caracterizada por una ataxia de progresión muy lenta o no progresiva, disartria, anomalías oculomotoras y discapacidad intelectual."},"it":{"name":"Atassia spinocerebellare tipo 29","synonyms":["Atassia spinocerebellare non progressiva congenita","SCA29"],"definition":"L'atassia spinocerebellare tipo 29 (SCA29) è una forma di atassia cerebellare autosomica dominate tipo I, caratterizzata da atassia non progressiva o a progressione molto lenta, disartria, anomalie oculomotorie e disabilità intellettiva."},"nl":{"name":"Spinocerebellaire ataxie type 29","synonyms":["Congenitale niet-progressieve spinocerebellaire ataxie","SCA29"],"definition":"Een autosomaal dominante cerebellaire ataxie type I (ADCA type I), gekarakteriseerd door zeer traag progressieve of niet-progressieve ataxie, dysartrie, oculomotorische afwijkingen en intellectuele achterstand."},"pt":{"name":"Ataxia espinocerebelosa tipo 29","synonyms":["Ataxia espinocerebelosa congénita não progressiva","SCA29"]},"pl":{"name":"Ataksja rdzeniowo-móżdżkowa typu 29","synonyms":["SCA29","Wrodzona niepostępująca ataksja rdzeniowo-móżdżkowa"]},"cs":{"name":"Spinocerebelární ataxie, typ 29","synonyms":["Vrozená neprogresivní spinocerebelární ataxie","SCA29"]},"uk":{"name":"Спіноцеребеллярна атаксія, тип 29","synonyms":["Вроджена непрогресуюча спіноцеребеллярна атаксія","SCA29"],"definition":"An autosomal dominant cerebellar ataxia type I that is characterized by very slowly progressive or non-progressive ataxia, dysarthria, oculomotor abnormalities and intellectual disability."},"zh":{"name":"脊髓小脑共济失调29型","synonyms":["先天性非进行性脊髓小脑性共济失调"],"definition":"脊髓小脑性共济失调29型是一种小脑共济失调I型，其主要临床表现为非进行性或非常缓慢进行性共济失调、构音障碍、动眼神经损伤和智力障碍，多以常染色体显性方式遗传。"},"tr":{"name":"Spinoserebellar ataksi tip 29","synonyms":["SCA29","Doğumsal ilerleyici olmayan spinoserebellar ataksi"]}},"xrefs":[{"source":"OMIM","code":"117360","qualifier":"E","icd_relation":null,"validated":true},{"source":"ICD-10","code":"G11.0","qualifier":"NTBT","icd_relation":"attributed","validated":true},{"source":"ICD-11","code":"8A03.16","qualifier":"NTBT","icd_relation":"index","validated":true,"icd11_uri":"359640365"},{"source":"MONDO","code":"0007298","qualifier":"E","icd_relation":null,"validated":true},{"source":"MeSH","code":"C537206","qualifier":"E","icd_relation":null,"validated":true},{"source":"UMLS","code":"C1861732","qualifier":"E","icd_relation":null,"validated":true},{"source":"GARD","code":"10480","qualifier":"E","icd_relation":null,"validated":true}],"associations":[],"incoming_associations":[],"preferential_parent":{"orpha":98006,"name":"Rare neurologic disease"},"parents":[{"orpha":94145,"name":"Autosomal dominant cerebellar ataxia type I","classifications":[156,181]}],"children":[],"genes":[{"symbol":"ITPR1","name":"inositol 1,4,5-trisphosphate receptor type 1","gene_type":"gene with protein product","association":"Disease-causing germline mutation(s) in","status":"Assessed","source":"22986007[PMID]","hgnc":"6180","ensembl":"ENSG00000150995","omim":"147265","loci":["3p26.1"]}],"genes_via_subtypes":[],"inheritance":["Autosomal dominant","Autosomal recessive"],"onset":["Infancy","Neonatal"],"prevalence":[{"type":"Cases/families","qualification":"Case(s)","class":null,"value":50.0,"area":"Worldwide","status":"Validated","source":"ORPHANET_[EXPERT]"},{"type":"Point prevalence","qualification":"Class only","class":"Unknown","value":0.0,"area":"Worldwide","status":"Validated","source":"ORPHANET"}],"phenotypes":{"validation_status":"y","online":"y","validation_date":"2018-03-13","source":"28659154[PMID]","terms":[{"hpo":"HP:0010862","label":"Delayed fine motor development","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0002194","label":"Delayed gross motor development","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0000750","label":"Delayed speech and language development","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0001260","label":"Dysarthria","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0001310","label":"Dysmetria","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0002066","label":"Gait ataxia","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0002080","label":"Intention tremor","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0000570","label":"Abnormal saccadic eye movements","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0001272","label":"Cerebellar atrophy","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0006855","label":"Cerebellar vermis atrophy","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0100543","label":"Cognitive impairment","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0012434","label":"Delayed social development","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0002075","label":"Dysdiadochokinesis","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0001290","label":"Generalized hypotonia","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0001270","label":"Motor delay","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000639","label":"Nystagmus","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000657","label":"Oculomotor apraxia","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0001251","label":"Ataxia","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0001263","label":"Global developmental delay","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0025405","label":"Visual fixation instability","frequency":"Occasional (29-5%)","criteria":null}]}}