{"orpha":99,"name":"Autosomal dominant cerebellar ataxia","type":"Category","group":"Group of disorders","status":"active","flags":[],"synonyms":["ADCA","Autosomal dominant spinocerebellar ataxia"],"definition":"A clinically and genetically heterogeneous group of neurodegenerative diseases characterized by a slowly progressive ataxia of gait, stance and limbs, dysarthria and/or oculomotor disorder, due to cerebellar degeneration in the absence of coexisting diseases. The degenerative process can be limited to the cerebellum (ADCA type 3) or may additionally involve the retina (ADCA type 2), optic nerve, ponto-medullary systems, basal ganglia, cerebral cortex, spinal tracts or peripheral nerves (ADCA type 1). In ACDA type 4, a cerebellar syndrome is associated with epilepsy.","note":null,"url":"https://raremap.alftech.space/d/ORPHA-99/","orphanet_url":"https://www.orpha.net/en/disease/detail/99","names":{"fr":{"name":"Ataxie cérébelleuse autosomique dominante","synonyms":["Ataxie spinocérébelleuse"],"definition":"Les ataxies cérébelleuses autosomiques dominantes décrivent un groupe cliniquement et génétiquement hétérogène de maladies neurodégénératives caractérisé par une ataxie lente et progressive de la marche, de la posture et des extrémités, une dysarthrie et/ou des troubles oculomoteurs dus à une dégénérescence cérébelleuse sans pathologies coexistantes. Le processus dégénératif peut se limiter au cervelet (ADCA type 3) ou peut aussi impliquer la rétine (ADCA type 2), le nerf optique, les systèmes ponto-médullaires, les ganglions de la base, le cortex cérébral, les fibres médullaires et les nerfs périphériques (ADCA type 1) ou peut décrire un syndrome cérébelleux avec épilepsie dans le cas de l'ADCA type 4."},"de":{"name":"Zerebelläre Ataxie, autosomal-dominante","synonyms":["ADCA","Kleinhirnataxie","Spinozerebelläre Ataxie"],"definition":"Die autosomal-dominante zerebelläre Ataxie (ADCA) beschreibt eine klinisch und genetisch heterogene Gruppe von neurodegenerativen Erkrankungen, welche durch eine langsam progrediente Gang-, Stand- und Extremitätenataxie, Dysarthrie und/oder okulomotorische Störungen bei zerebellärer Degeneration ohne andere koexistierende Erkrankungen charakterisiert sind. Der degenerative Prozess kann auf das Cerebellum (ADCA Typ 3) begrenzt sein oder kann zusätzlich die Retina (ADCA Typ 2), Sehnerven, ponto-medulläre Systeme, Basalganglien, zerebralen Kortex, spinale Bahnen oder periphere Nerven (ADCA Typ 1) (siehe jeweils dort) betreffen. Bei der ADCA Typ 4 (siehe dort) ist ein zerebelläres Syndrom mit Epilepsie assoziiert."},"es":{"name":"Ataxia cerebelosa autosómica dominante","synonyms":["Ataxia espinocerebelosa autosómica dominante"],"definition":"Es un grupo clínica y genéticamente heterogéneo de enfermedades neurodegenerativas caracterizadas por ataxia de la marcha, postural y de las extremidades, de progresión lenta, disartria y/o trastorno oculomotor. Se deben a una degeneración cerebelosa en ausencia de enfermedades coexistentes. El proceso degenerativo puede estar limitado al cerebelo (ADCA tipo 3) o puede afectar adicionalmente a la retina (ADCA tipo 2), nervio óptico, vías bulbo-protuberanciales, ganglios basales, corteza cerebral, tractos espinales o nervios periféricos (ADCA tipo 1). En la ADCA tipo 4 (consulte este término), se asocia un síndrome cerebeloso con epilepsia."},"it":{"name":"Atassia cerebellare, autosomica dominante","synonyms":["Atassia spinocerebellare"],"definition":"L'atassia cerebellare autosomica dominante (ADCA) comprende un gruppo di malattie neurodegenerative eterogenee dal punto di vista clinico e genetico, caratterizzate da andatura atassica, atassia della postura e degli arti a progressione lenta, disartria e/o disturbi oculomotori, causati dalla degenerazione cerebellare in assenza di altre patologie. Il processo degenerativo può essere limitato al cervelletto (ADCA tipo 3), oppure interessare anche la retina (ADCA tipo 2), il nervo ottico, i sistemi ponto-midollari, i gangli basali, la corteccia cerebrale, i nervi dei tratti spinali o quelli periferici (ADCA tipo 1) (si vedano questi termini). Nella ADCA tipo 4 (si veda questo termine) la sindrome cerebellare si associa ad epilessia."},"nl":{"name":"Autosomale dominante cerebellaire ataxie","synonyms":["ADCA","Autosomale dominante spinocerebellaire ataxie"],"definition":"Een klinisch en genetisch heterogene groep van neurodegeneratieve ziekten, gekarakteriseerd door een traag progressieve ataxie van gang, stand en ledematen, dysartrie en/of oculomotorische stoornis, ten gevolge van cerebellaire degeneratie in afwezigheid van een co-existerende ziekte. Het degeneratieve proces kan beperkt zijn tot de kleine hersenen (ADCA type 3) of kan bijkomend netvlies aantasten (ADCA type 2), alsook oogzenuw, ponto-medullaire systemen, basale ganglia, hersenschors, banen van het ruggenmerg of perifere zenuwen (ADCA type 1). Bij ADCA type 4 is een cerebellair syndroom geassocieerd met epilepsie."},"pt":{"name":"Ataxia cerebelosa autossómica dominante","synonyms":["ADCA","Ataxia espinocerebelosa"],"definition":"Um grupo clínica e geneticamente heterogéneo de doenças neurodegenerativas caracterizadas por ataxia lentamente progressiva da marcha, postura e membros, disartria e/ou distúrbio oculomotor, devido a degeneração cerebelosa na ausência de doenças coexistentes. O processo degenerativo pode estar limitado ao cerebelo (ADCA tipo 3) ou pode envolver adicionalmente a retina (ADCA tipo 2), o nervo ótico, os sistemas pontomedulares, os gânglios da base, o córtex cerebral, os tratos espinhais ou os nervos periféricos (ADCA tipo 1). Na ADCA tipo 4, uma síndrome cerebelosa está associada à epilepsia."},"pl":{"name":"Autosomalnie dominująca ataksja móżdżkowa","synonyms":["ADCA","Autosomalnie dominująca ataksja rdzeniowo-móżdżkowa"],"definition":"Klinicznie i genetycznie niejednorodna grupa chorób neurodegeneracyjnych charakteryzująca się wolno postępującą ataksją chodu, postawy i kończyn, dyzartrią i/lub zaburzeniami okoruchowymi, wynikającymi ze zwyrodnienia móżdżku przy braku chorób współistniejących. Proces zwyrodnieniowy może ograniczać się do móżdżku (typ 3) lub dodatkowo obejmować siatkówkę (typ 2), nerw wzrokowy, układ mostowo-rdzeniowy, zwoje podstawne, korę mózgową, kręgosłup lub nerwy obwodowe (typ 1). W typie 4 zespół móżdżkowy jest powiązany z padaczką."},"cs":{"name":"Autozomálně dominantní cerebelární ataxie","synonyms":["ADCA","ADSCA","Autozomálně dominantní spinocerebelární ataxie"]},"uk":{"name":"Аутосомно-домінантна мозочкова атаксія","synonyms":["ADCA","Аутосомно-домінантна спіноцеребеллярна атаксія"],"definition":"A clinically and genetically heterogeneous group of neurodegenerative diseases characterized by a slowly progressive ataxia of gait, stance and limbs, dysarthria and/or oculomotor disorder, due to cerebellar degeneration in the absence of coexisting diseases. The degenerative process can be limited to the cerebellum (ADCA type 3) or may additionally involve the retina (ADCA type 2), optic nerve, ponto-medullary systems, basal ganglia, cerebral cortex, spinal tracts or peripheral nerves (ADCA type 1). In ACDA type 4, a cerebellar syndrome is associated with epilepsy."},"zh":{"name":"常染色体显性遗传小脑型共济失调","synonyms":["常染色体显性遗传脊髓小脑共济失调"]},"tr":{"name":"Otozomal dominant serebellar ataksi","synonyms":["ADCA","Otozomal dominant spinoserebellar ataksi"]}},"xrefs":[{"source":"ICD-11","code":"8A03.1Y","qualifier":"NTBT","icd_relation":"index","validated":true,"icd11_uri":"782552318"},{"source":"MONDO","code":"0020380","qualifier":"E","icd_relation":null,"validated":true},{"source":"UMLS","code":"C4087347","qualifier":"E","icd_relation":null,"validated":true},{"source":"GARD","code":"4346","qualifier":"E","icd_relation":null,"validated":true}],"associations":[],"incoming_associations":[{"type":"Referred to","orpha":98068,"name":"OBSOLETE: Autosomal dominant spinocerebellar ataxia due to a polyglutamine anomaly","status":"inactive"},{"type":"Referred to","orpha":98069,"name":"OBSOLETE: Autosomal dominant spinocerebellar ataxia due to a channelopathy","status":"inactive"},{"type":"Referred to","orpha":98070,"name":"OBSOLETE: Autosomal dominant spinocerebellar ataxia due to repeat expansions that do not encode polyglutamine","status":"inactive"},{"type":"Referred to","orpha":98071,"name":"OBSOLETE: Autosomal dominant spinocerebellar ataxia due to a point mutation","status":"inactive"},{"type":"Referred to","orpha":98073,"name":"OBSOLETE: Unclassified autosomal dominant spinocerebellar ataxia","status":"inactive"}],"preferential_parent":{"orpha":98006,"name":"Rare neurologic disease"},"parents":[{"orpha":183518,"name":"Hereditary ataxia","classifications":[156,181]},{"orpha":98540,"name":"Late-onset ataxia with dementia","classifications":[156,181]}],"children":[{"orpha":94145,"name":"Autosomal dominant cerebellar ataxia type I","type":"Clinical group"},{"orpha":208508,"name":"Autosomal dominant cerebellar ataxia type II","type":"Clinical group"},{"orpha":94148,"name":"Autosomal dominant cerebellar ataxia type III","type":"Clinical group"},{"orpha":94149,"name":"Autosomal dominant cerebellar ataxia type IV","type":"Clinical group"},{"orpha":642747,"name":"PUM1-related cerebellar ataxia","type":"Disease"}],"genes":[],"genes_via_subtypes":[],"inheritance":["Autosomal dominant"],"onset":["All ages"],"prevalence":[{"type":"Point prevalence","qualification":"Value and class","class":"1-9 / 100 000","value":2.7,"area":"Worldwide","status":"Validated","source":"24603320[PMID]"},{"type":"Point prevalence","qualification":"Value and class","class":"1-9 / 100 000","value":3.0,"area":"Netherlands","status":"Validated","source":"11889231[PMID]"},{"type":"Point prevalence","qualification":"Value and class","class":"1-9 / 1 000 000","value":0.9,"area":"Italy","status":"Validated","source":"7793232[PMID]"},{"type":"Point prevalence","qualification":"Value and class","class":"1-9 / 100 000","value":5.6,"area":"Portugal","status":"Validated","source":"23609960[PMID]"},{"type":"Point prevalence","qualification":"Value and class","class":"1-9 / 100 000","value":5.6,"area":"Europe","status":"Validated","source":"23609960[PMID]"},{"type":"Point prevalence","qualification":"Value and class","class":"1-5 / 10 000","value":12.6,"area":"Japan","status":"Validated","source":"19169038[PMID]"}],"phenotypes":null}