{"orpha":94148,"name":"Autosomal dominant cerebellar ataxia type III","type":"Clinical group","group":"Group of disorders","status":"active","flags":[],"synonyms":["ADCA3","ADCAIII","Autosomal dominant cerebellar ataxia type 3","Pure cerebellar syndrome-mild pyramidal signs syndrome"],"definition":"A group of neurodegenerative disorders characterized by mostly pure cerebellar syndromes with occasional non-cerebellar signs (e.g. pyramidal signs, peripheral neuropathy, writer's cramp) and includes spinocerebellar ataxia (SCA) type 5 (SCA5), SCA6, SCA11, SCA26, SCA30, and SCA31.","note":null,"url":"https://raremap.alftech.space/d/ORPHA-94148/","orphanet_url":"https://www.orpha.net/en/disease/detail/94148","names":{"fr":{"name":"Ataxie cérébelleuse autosomique dominante type III","synonyms":["ADCA3","ADCAIII","Ataxie cérébelleuse autosomique dominante type 3","Syndrome cérébelleux pur-signes pyramidaux modérés"],"definition":"Groupe de maladies neurodégénératives caractérisées par des syndromes cérébelleux essentiellement purs avec des signes non cérébelleux occasionnels (signes de syndrome pyramidal, neuropathie périphérique, crampe de l'écrivain), comprenant l'ataxie spinocérébelleuse type 5 (ASC5), l'ASC6, l'ASC11, l'ASC26, l'ASC30 et l'ASC31."},"de":{"name":"Ataxie, zerebelläre, autosomal-dominante, Typ III","synonyms":["ADCA3","ADCAIII","Ataxie, zerebelläre, autosomal-dominante, Typ 3","Rein Zerebelläres Syndrom - milde pyramidale Störungen","Reines zerebelläres Syndrom mit milden pyramidalen Störungen"],"definition":"Als autosomal-dominante zerebelläre Ataxie (ACDA; siehe dort) Typ 3 wird eine Gruppe von neurodegenerativen Erkrankungen beschrieben, die hauptsächlich durch rein zerebelläre Syndrome mit gelegentlich nicht-zerebellären Zeichen (z.B. Pyramidenbahnzeichen, periphere Neuropathie, Schreibkrampf) charakterisiert sind. Dazu gehören die Spinozerebelläre Ataxien (SCA) Typ 5 (SCA5), SCA6, SCA11, SCA26, SCA30 und SCA31 (siehe jeweils dort)."},"es":{"name":"Ataxia cerebelosa autosómica dominante tipo III","synonyms":["ADCA3","ADCAIII","Ataxia cerebelosa autosómica dominante tipo 3","Síndrome cerebeloso puro-síndrome de signos piramidales leves"],"definition":"Es un grupo de trastornos neurodegenerativos caracterizados mayoritariamente por síndromes cerebelosos puros con signos no-cerebelosos ocasionales (por ejemplo, signos piramidales, neuropatía periférica, calambre del escribiente) e incluyen la ataxia espinocerebelosa (SCA) tipo 5 (SCA5), SCA6, SCA11, SCA26, SCA30 y SCA31."},"it":{"name":"Atassia cerebellare autosomica dominante, tipo 3","synonyms":["ADCA3","ADCAIII","Atassia cerebellare autosomica dominante, tipo III","Sindrome cerebellare pura - lievi segni piramidali"],"definition":"L'atassia cerebellare autosomica dominante (ADCA; si veda questo termine) tipo 3 comprende un gruppo di malattie neurodegenerative caratterizzate solo da quadri cerebellari con occasionali segni non cerebellari occasionali (segni piramidali, neuropatia periferica e crampo dello scrivano); comprende l'atassia cerebellare (SCA) tipo 5 (SCA6), SCA6, SCA11, SCA26, SCA30 e SCA31 (si vedano questi termini)."},"nl":{"name":"Autosomaal dominante cerebellaire ataxie type III","synonyms":["ADCA3","ADCAIII","Autosomaal dominante cerebellaire ataxie type 3","Zuiver cerebellair syndroom - syndroom met milde piramidale tekenen"],"definition":"Een groep van neurodegeneratieve aandoeningen, gekarakteriseerd door overwegend zuivere cerebellaire syndromen met occasioneel niet-cerebellaire tekenen (e.g. piramidale tekenen, perifere neuropathie, schrijfkramp), met onder meer spinocerebellaire ataxie (SCA) type 5 (SCA5), SCA6, SCA11, SCA26, SCA30 en SCA31."},"pt":{"name":"Ataxia cerebelosa autossómica dominante tipo III","synonyms":["ADCA3"]},"pl":{"name":"Autosomalna dominująca ataksja móżdżkowa typu III","synonyms":["ADCA3","ADCAIII","Autosomalna dominująca ataksja móżdżkowa typu 3","Czysty zespół móżdżkowy - zespół łagodnych objawów piramidowych"]},"cs":{"name":"Autozomálně dominantní cerebelární ataxie, typ 3","synonyms":["ADCA3","ADCAIII","Autozomálně dominantní cerebelární ataxie, typ III","Syndrom zahrnující čistý cerebelární syndrom a mírné pyramidové příznaky"]},"uk":{"name":"Аутосомно-домінантна мозочкова атаксія, тип III","synonyms":["ADCA3","ADCAIII","Аутосомно-домінантна мозочкова атаксія типу 3","Чистий мозочковий синдром - синдром легких пірамідних знаків"],"definition":"A group of neurodegenerative disorders characterized by mostly pure cerebellar syndromes with occasional non-cerebellar signs (e.g. pyramidal signs, peripheral neuropathy, writer's cramp) and includes spinocerebellar ataxia (SCA) type 5 (SCA5), SCA6, SCA11, SCA26, SCA30, and SCA31."},"zh":{"name":"常染色体显性遗传性小脑共济失调III型","synonyms":["单纯小脑综合征-轻度锥体征综合征"],"definition":"一组神经退行性疾病，主要表现为单纯小脑综合征，包括脊髓小脑共济失调（SCA）5型（SCA5）、SCA6、SCA11、SCA26、SCA30和SCA31，偶尔伴有非小脑体征（如锥体束征、周围神经病变、书写痉挛）。"},"tr":{"name":"Otozomal dominant serebellar ataksi tip III","synonyms":["ADCA3","ADCAIII","Otozomal baskın serebellar ataksi tip 3","Saf serebellar sendrom-hafif piramidal belirtiler sendromu"]}},"xrefs":[{"source":"MONDO","code":"0019793","qualifier":"E","icd_relation":null,"validated":true},{"source":"UMLS","code":"C5680260","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":98767,"name":"Spinocerebellar ataxia type 11","type":"Disease"},{"orpha":101112,"name":"Spinocerebellar ataxia type 26","type":"Disease"},{"orpha":211017,"name":"Spinocerebellar ataxia type 30","type":"Disease"},{"orpha":217012,"name":"Spinocerebellar ataxia type 31","type":"Disease"},{"orpha":423296,"name":"Spinocerebellar ataxia type 38","type":"Disease"},{"orpha":458798,"name":"Spinocerebellar ataxia type 41","type":"Disease"},{"orpha":458803,"name":"Spinocerebellar ataxia type 42","type":"Disease"},{"orpha":631095,"name":"Spinocerebellar ataxia type 44","type":"Disease"},{"orpha":589527,"name":"Spinocerebellar ataxia type 45","type":"Disease"},{"orpha":98766,"name":"Spinocerebellar ataxia type 5","type":"Disease"},{"orpha":98758,"name":"Spinocerebellar ataxia type 6","type":"Disease"}],"genes":[],"genes_via_subtypes":[],"inheritance":["Autosomal dominant"],"onset":["Adolescent","Adult","Childhood","Elderly"],"prevalence":[{"type":"Point prevalence","qualification":"Class only","class":"Unknown","value":0.0,"area":"Worldwide","status":"Validated","source":"24225362[PMID]"}],"phenotypes":null}