{"orpha":589527,"name":"Spinocerebellar ataxia type 45","type":"Disease","group":"Disorder","status":"active","flags":[],"synonyms":["SCA45"],"definition":"A rare autosomal dominant cerebellar ataxia characterized by slowly progressive late-onset gait and limb ataxia, dysarthria, and variable nystagmus. Brain imaging reveals cerebellar atrophy.","note":null,"url":"https://raremap.alftech.space/d/ORPHA-589527/","orphanet_url":"https://www.orpha.net/en/disease/detail/589527","names":{"fr":{"name":"Ataxie spinocérébelleuse type 45","synonyms":["SCA45"],"definition":"Ataxie cérébelleuse autosomique dominante rare, caractérisée par une démarche ataxique et une ataxie des membres lentement progressive, une dysarthrie et un nystagmus variable. L'imagerie cérébrale met en évidence une atrophie cérébelleuse."},"de":{"name":"Ataxie, spinozerebelläre, Typ 45","synonyms":["SCA45"],"definition":"Eine autosomal-dominante zerebelläre Ataxie, die durch langsam progrediente, spät einsetzende Gang- und Gliedmaßenataxie, Dysarthrie und variablen Nystagmus gekennzeichnet ist. Die Bildgebung des Gehirns zeigt eine Atrophie des Kleinhirns."},"es":{"name":"Ataxia espinocerebelosa tipo 45","synonyms":["SCA45"],"definition":"Es una ataxia cerebelosa autosómica dominante poco frecuente caracterizada por ataxia de la marcha y de las extremidades de aparición tardía y lentamente progresiva, disartria y nistagmo variable. Las neuroimágenes revelan atrofia cerebelosa."},"it":{"name":"Atassia spinocerebellare tipo 45","synonyms":["SCA45"]},"nl":{"name":"Spinocerebellaire ataxie type 45","synonyms":["SCA45"],"definition":"Een zeldzame autosomaal dominante cerebellaire ataxie, gekenmerkt door traag progressieve en laat optredende ataxie van gang en ledematen, dysartrie, en variabele nystagmus. Beeldvorming van hersenen toont cerebellaire atrofie."},"pt":{"name":"Ataxia espinocerebelosa tipo 45","synonyms":["SCA45"],"definition":"Ataxia cerebelosa autossómica dominante rara, caracterizada por ataxia dos membros e da marcha lentamente progressiva e de início tardio, disartria e nistagmo variável. Os exames de neuroimagem cerebral demonstram atrofia cerebelosa."},"pl":{"name":"Ataksja rdzeniowo-móżdżkowa typ 45","synonyms":["SCA typ 45"]},"cs":{"name":"Spinocerebelární ataxie typu 45","synonyms":["SCA45"]},"uk":{"name":"Спіноцеребеллярна атаксія, тип 45","synonyms":["SCA45"],"definition":"A rare autosomal dominant cerebellar ataxia characterized by slowly progressive late-onset gait and limb ataxia, dysarthria, and variable nystagmus. Brain imaging reveals cerebellar atrophy."},"zh":{"name":"Spinocerebellar ataxia type 45","synonyms":["SCA45"]},"tr":{"name":"Spinocerebellar ataxia type 45","synonyms":["SCA45"]}},"xrefs":[{"source":"OMIM","code":"617769","qualifier":"E","icd_relation":null,"validated":true},{"source":"ICD-10","code":"G11.8","qualifier":"NTBT","icd_relation":"attributed","validated":true},{"source":"ICD-11","code":"8A03.16","qualifier":"NTBT","icd_relation":"attributed","validated":true},{"source":"MONDO","code":"0033480","qualifier":"E","icd_relation":null,"validated":true},{"source":"UMLS","code":"C4540400","qualifier":"E","icd_relation":null,"validated":true}],"associations":[],"incoming_associations":[],"preferential_parent":{"orpha":98006,"name":"Rare neurologic disease"},"parents":[{"orpha":94148,"name":"Autosomal dominant cerebellar ataxia type III","classifications":[156,181]}],"children":[],"genes":[{"symbol":"FAT2","name":"FAT atypical cadherin 2","gene_type":"gene with protein product","association":"Disease-causing germline mutation(s) in","status":"Assessed","source":"29053796[PMID]","hgnc":"3596","ensembl":"ENSG00000086570","omim":"604269","loci":["5q33.1"]}],"genes_via_subtypes":[],"inheritance":["Autosomal dominant"],"onset":["Adult"],"prevalence":[{"type":"Cases/families","qualification":"Case(s)","class":null,"value":7.0,"area":"Worldwide","status":"Validated","source":"29053796[PMID]_29847346[PMID]"},{"type":"Point prevalence","qualification":"Class only","class":"<1 / 1 000 000","value":0.0,"area":"Worldwide","status":"Validated","source":"29053796[PMID]_29847346[PMID]"}],"phenotypes":null}