{"orpha":94145,"name":"Autosomal dominant cerebellar ataxia type I","type":"Clinical group","group":"Group of disorders","status":"active","flags":[],"synonyms":["ADCA1","ADCAI","Autosomal dominant cerebellar ataxia type 1","Cerebellar plus syndrome"],"definition":"A group of spinocerebellar ataxias (SCAs) characterized by ataxia with other neurological signs, including oculomotor disturbances, cognitive deficits, pyramidal and extrapyramidal dysfunction, bulbar, spinal and peripheral nervous system involvement.","note":null,"url":"https://raremap.alftech.space/d/ORPHA-94145/","orphanet_url":"https://www.orpha.net/en/disease/detail/94145","names":{"fr":{"name":"Ataxie cérébelleuse autosomique dominante type I","synonyms":["ADCAI","Ataxie cérébelleuse autosomique dominante type 1","ADCA1"],"definition":"L'ataxie cérébelleuse autosomique dominante type 1 (ADCA1) est un groupe d'ataxies spinocérébelleuses (ASC) caractérisée par une ataxie associée à d'autres signes neurologiques : atteinte oculomotrice, déficit cognitif, syndrome pyramidal et extrapyramidal, atteinte bulbaire, médullaire et nerveuse périphérique."},"de":{"name":"Ataxie, zerebelläre, autosomal-dominante, Typ I","synonyms":["ADCA1","ADCAI","Ataxie, zerebelläre, autosomal-dominante, Typ 1","Cerebellar plus-Syndrom"],"definition":"Der Typ I der autosomal-dominanten zerebellären Ataxie (ADCA) bezeichnet eine Gruppe spinozerebellärer Ataxien (SCAs), die gekennzeichnet sind durch Ataxie in Verbindung mit anderen neurologischen Symptomen, darunter okulomotorische Störungen, kognitive Defizite, pyramidale und extrapyramidale und bulbäre Störungen und Beteiligung des spinalen und peripheren Nervensystems."},"es":{"name":"Ataxia cerebelosa autosómica dominante tipo I","synonyms":["ADCA1","ADCAI","Ataxia cerebelosa autosómica dominante tipo 1","Síndrome cerebeloso plus"],"definition":"Es un grupo de ataxias espinocerebelosas (SCAs) caracterizadas por ataxia con otros signos neurológicos que incluyen trastornos oculomotores, déficits cognitivos, disfunción piramidal y extrapiramidal y afectación bulbar, espinal y del sistema nervioso periférico."},"it":{"name":"Atassia cerebellare autosomica dominante, tipo 1","synonyms":["ADCA1","ADCAI","Atassia cerebellare autosomica dominante, tipo I","Sindrome cerebellare plus"],"definition":"ANPM"},"nl":{"name":"Autosomaal dominante cerebellaire ataxie type I","synonyms":["ADCA1","ADCAI","Autosomaal dominante cerebellaire ataxie type 1","Cerebellair plus syndroom"],"definition":"Een groep van spinocerebellaire ataxieën (SCA's), gekarakteriseerd door ataxie met andere neurologische tekenen, waaronder oculomotorische stoornissen, cognitieve beperkingen, piramidale en extrapiramidale disfunctie, bulbaire en spinale betrokkenheid alsook aantasting van perifeer zenuwstelsel."},"pt":{"name":"Ataxia cerebelosa autossómica dominante tipo I","synonyms":["ADCA1"],"definition":"A ataxia cerebelar autossómica dominante tipo I (ACAD) é um grupo de ataxias espinocerebelares (SCAs), caracterizada por ataxia com outros sinais neurológicos, inclusive distúrbios oculomotores, déficits cognitivos, disfunção piramidal e extrapiramidal, bulbar, espinhal e envolvimento do sistema nervoso periférico."},"pl":{"name":"Autosomalna dominująca ataksja móżdżkowa typu I","synonyms":["ADCA1","ADCAI","Zespół móżdżkowy plus","Autosomalna dominująca ataksja móżdżkowa typu 1"]},"cs":{"name":"Autozomálně dominantní cerebelární ataxie, typ 1","synonyms":["ADCA1","ADCAI","Autozomálně dominantní cerebelární ataxie, typ I"]},"uk":{"name":"Аутосомно-домінантна мозочкова атаксія, тип I","synonyms":["ADCA1","ADCAI","Аутосомно-домінантна мозочкова атаксія типу 1","Синдром мозочок плюс"],"definition":"A group of spinocerebellar ataxias (SCAs) characterized by ataxia with other neurological signs, including oculomotor disturbances, cognitive deficits, pyramidal and extrapyramidal dysfunction, bulbar, spinal and peripheral nervous system involvement."},"zh":{"name":"常染色体显性遗传性小脑共济失调I型","synonyms":["常染色体显性遗传性遗传性小脑共济失调1型"],"definition":"一组脊髓小脑共济失调 (SCAs) ，其特征是共济失调伴其他神经系统症状，包括动眼障碍、认知障碍、锥体和锥体外系功能障碍及延髓、脊髓和外周神经系统受累。"},"tr":{"name":"Otozomal dominant serebellar ataksi tip I","synonyms":["ADCA1","ADCAI","Serebellar artı sendromu","Otozomal dominant serebellar ataksi tip 1"]}},"xrefs":[{"source":"MONDO","code":"0019792","qualifier":"E","icd_relation":null,"validated":true},{"source":"UMLS","code":"C5680259","qualifier":"E","icd_relation":null,"validated":true}],"associations":[],"incoming_associations":[],"preferential_parent":{"orpha":98006,"name":"Rare neurologic disease"},"parents":[{"orpha":99,"name":"Autosomal dominant cerebellar ataxia","classifications":[156,181]}],"children":[{"orpha":314404,"name":"Autosomal dominant cerebellar ataxia-deafness-narcolepsy syndrome","type":"Disease"},{"orpha":1171,"name":"Cerebellar ataxia-areflexia-pes cavus-optic atrophy-sensorineural hearing loss syndrome","type":"Disease"},{"orpha":314647,"name":"Non-progressive cerebellar ataxia with intellectual disability","type":"Disease"},{"orpha":589515,"name":"PUM1-associated developmental disability-ataxia-seizure syndrome","type":"Disease"},{"orpha":98755,"name":"Spinocerebellar ataxia type 1","type":"Disease"},{"orpha":98762,"name":"Spinocerebellar ataxia type 12","type":"Disease"},{"orpha":98768,"name":"Spinocerebellar ataxia type 13","type":"Disease"},{"orpha":98763,"name":"Spinocerebellar ataxia type 14","type":"Disease"},{"orpha":98769,"name":"Spinocerebellar ataxia type 15/16","type":"Disease"},{"orpha":98759,"name":"Spinocerebellar ataxia type 17","type":"Disease"},{"orpha":98771,"name":"Spinocerebellar ataxia type 18","type":"Disease"},{"orpha":98772,"name":"Spinocerebellar ataxia type 19/22","type":"Disease"},{"orpha":98756,"name":"Spinocerebellar ataxia type 2","type":"Disease"},{"orpha":101110,"name":"Spinocerebellar ataxia type 20","type":"Disease"},{"orpha":98773,"name":"Spinocerebellar ataxia type 21","type":"Disease"},{"orpha":101108,"name":"Spinocerebellar ataxia type 23","type":"Disease"},{"orpha":101111,"name":"Spinocerebellar ataxia type 25","type":"Disease"},{"orpha":98764,"name":"Spinocerebellar ataxia type 27A","type":"Disease"},{"orpha":675216,"name":"Spinocerebellar ataxia type 27B","type":"Disease"},{"orpha":101109,"name":"Spinocerebellar ataxia type 28","type":"Disease"},{"orpha":208513,"name":"Spinocerebellar ataxia type 29","type":"Disease"},{"orpha":98757,"name":"Spinocerebellar ataxia type 3","type":"Disease"},{"orpha":276183,"name":"Spinocerebellar ataxia type 32","type":"Disease"},{"orpha":1955,"name":"Spinocerebellar ataxia type 34","type":"Disease"},{"orpha":276193,"name":"Spinocerebellar ataxia type 35","type":"Disease"},{"orpha":276198,"name":"Spinocerebellar ataxia type 36","type":"Disease"},{"orpha":363710,"name":"Spinocerebellar ataxia type 37","type":"Disease"},{"orpha":98765,"name":"Spinocerebellar ataxia type 4","type":"Disease"},{"orpha":423275,"name":"Spinocerebellar ataxia type 40","type":"Disease"},{"orpha":497764,"name":"Spinocerebellar ataxia type 43","type":"Disease"},{"orpha":589522,"name":"Spinocerebellar ataxia type 46","type":"Disease"},{"orpha":631103,"name":"Spinocerebellar ataxia type 48","type":"Disease"},{"orpha":631106,"name":"Spinocerebellar ataxia type 49","type":"Disease"},{"orpha":98760,"name":"Spinocerebellar ataxia type 8","type":"Disease"}],"genes":[],"genes_via_subtypes":[],"inheritance":["Autosomal dominant"],"onset":["All ages"],"prevalence":[{"type":"Point prevalence","qualification":"Class only","class":"Unknown","value":0.0,"area":"Worldwide","status":"Not yet validated","source":"ORPHANET"}],"phenotypes":null}