{"orpha":98760,"name":"Spinocerebellar ataxia type 8","type":"Disease","group":"Disorder","status":"active","flags":[],"synonyms":["SCA8"],"definition":"Spinocerebellar ataxia type 8 (SCA8) is a subtype of type I autosomal dominant cerebellar ataxia (ADCA type I) characterized by cerebellar ataxia and cognitive dysfunction in almost three quarters of patients and pyramidal and sensory signs in approximately a third of patients.","note":null,"url":"https://raremap.alftech.space/d/ORPHA-98760/","orphanet_url":"https://www.orpha.net/en/disease/detail/98760","names":{"fr":{"name":"Ataxie spinocérébelleuse type 8","synonyms":["SCA8"],"definition":"L'ataxie spinocérébelleuse (ASC) de type 8 est une forme d'ataxie cérébelleuse autosomique dominante (ACAD) de type I caractérisée par une ataxie cérébelleuse et un déficit cognitif dans presque trois quarts des cas, et par une atteinte pyramidale et sensitive dans un tiers des cas."},"de":{"name":"Ataxie, spinozerebelläre, Typ 8","synonyms":["SCA8"],"definition":"Die Spinozerebelläre Ataxie Typ 8 (SCA8) ist ein Subtyp des Typs I der Autosomal-dominanten zerebellären Ataxie (ADCA Typ I; s. dort) und gekennzeichnet durch zerebelläre Ataxie, durch gestörte kognitive Funktionen bei fast dreiviertel der Patienten und durch Pyramidenzeichen und sensorische Ausfälle bei etwa einem Drittel der Patienten."},"es":{"name":"Ataxia espinocerebelosa tipo 8","synonyms":["SCA8"],"definition":"La ataxia espinocerebelosa tipo 8 (SCA8) es un subtipo de ataxia cerebelosa autosómica dominante tipo 1 (ADCA tipo I) caracterizada por ataxia cerebelosa y disfunción cognitiva en casi tres cuartos de los pacientes, y signos piramidales y sensoriales en aproximadamente una tercera parte de los mismos."},"it":{"name":"Atassia spinocerebellare, tipo 8","synonyms":["SCA8"],"definition":"L'atassia spinocerebellare tipo 8 (SCA8) è un sottotipo dell'atassia cerebellare autosomica dominante tipo 1 (ADCA tipo 1; si veda questo termine), caratterizzata da atassia cerebellare e disfunzione cognitiva in quasi tre quarti dei pazienti e segni piramidali e sensoriali in circa un terzo dei casi."},"nl":{"name":"Spinocerebellaire ataxie type 8","synonyms":["SCA8"],"definition":"Spinocerebellaire ataxie type 8 (SCA8) is een subtype van type I autosomaal dominante cerebellaire ataxie (ADCA type I; zie deze term), gekarakteriseerd door cerebellaire ataxie en cognitieve disfunctie bij bijna driekwart van de patiënten en piramidale en sensorische verschijnselen bij ongeveer een derde van de patiënten."},"pt":{"name":"Ataxia espinocerebelosa tipo 8","synonyms":["SCA8"],"definition":"A ataxia espinocerebelosa tipo 8 (SCA8) é um subtipo de ataxia cerebelosa autossómica dominante do tipo I (ADCA tipo I; ver este termo), caracterizada por ataxia cerebelosa e disfunção cognitiva em quase três quartos dos doentes e sinais piramidais e sensitivos em aproximadamente um terço dos doentes."},"pl":{"name":"Ataksja rdzeniowo-móżdżkowa typu 8","synonyms":["SCA8"]},"cs":{"name":"Spinocerebelární ataxie, typ 8","synonyms":["SCA8"]},"uk":{"name":"Спіноцеребеллярна атаксія, тип 8","synonyms":["SCA8"],"definition":"Spinocerebellar ataxia type 8 (SCA8) is a subtype of type I autosomal dominant cerebellar ataxia (ADCA type I; see this term) characterized by cerebellar ataxia and cognitive dysfunction in almost three quarters of patients and pyramidal and sensory signs in approximately a third of patients."},"zh":{"name":"脊髓小脑共济失调8型","synonyms":["SCA8"],"definition":"脊髓小脑性共济失调8型(SCA8)是I型常染色体显性遗传性小脑共济失调(ADCAI型，见该词条)的一个亚型，其特征是近四分之三的患者有小脑共济失调和认知功能障碍，约三分之一的患者有锥体和感觉体征。"},"tr":{"name":"Spinoserebellar ataksi tip 8","synonyms":["SCA8"]}},"xrefs":[{"source":"OMIM","code":"608768","qualifier":"E","icd_relation":null,"validated":true},{"source":"ICD-10","code":"G11.2","qualifier":"NTBT","icd_relation":"attributed","validated":true},{"source":"ICD-11","code":"8A03.16","qualifier":"NTBT","icd_relation":"index","validated":true,"icd11_uri":"1735913595"},{"source":"MONDO","code":"0012116","qualifier":"E","icd_relation":null,"validated":true},{"source":"MeSH","code":"C537307","qualifier":"E","icd_relation":null,"validated":true},{"source":"UMLS","code":"C1837454","qualifier":"E","icd_relation":null,"validated":true},{"source":"GARD","code":"4956","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":"ATXN8","name":"ataxin 8","gene_type":"gene with protein product","association":"Disease-causing germline mutation(s) in","status":"Assessed","source":null,"hgnc":"32925","ensembl":"ENSG00000288330","omim":"613289","loci":["13q21.33"]},{"symbol":"ATXN8OS","name":"ATXN8 opposite strand lncRNA","gene_type":"Non-coding RNA","association":"Disease-causing germline mutation(s) in","status":"Assessed","source":null,"hgnc":"10561","ensembl":"ENSG00000230223","omim":"603680","loci":["13q21.33"]}],"genes_via_subtypes":[],"inheritance":["Autosomal dominant"],"onset":["Adult"],"prevalence":[{"type":"Point prevalence","qualification":"Class only","class":"Unknown","value":0.0,"area":"Worldwide","status":"Not yet validated","source":"ORPHANET"}],"phenotypes":{"validation_status":"y","online":"y","validation_date":"2018-04-11","source":"10192387{PMID]_10690991[PMID]_15732096[PMID]_17060579[PMID]","terms":[{"hpo":"HP:0001251","label":"Ataxia","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0002067","label":"Bradykinesia","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:0001332","label":"Dystonia","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0002066","label":"Gait ataxia","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0001347","label":"Hyperreflexia","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000802","label":"Impotence","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0002070","label":"Limb ataxia","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000639","label":"Nystagmus","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0002172","label":"Postural instability","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0002063","label":"Rigidity","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0002464","label":"Spastic dysarthria","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0001257","label":"Spasticity","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0002317","label":"Unsteady gait","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0002835","label":"Aspiration","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000716","label":"Depression","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0002015","label":"Dysphagia","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000273","label":"Facial grimacing","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0012110","label":"Hypoplasia of the pons","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0007772","label":"Impaired smooth pursuit","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0002495","label":"Impaired vibratory sensation","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000020","label":"Urinary incontinence","frequency":"Occasional (29-5%)","criteria":null}]}}