{"orpha":98766,"name":"Spinocerebellar ataxia type 5","type":"Disease","group":"Disorder","status":"active","flags":[],"synonyms":["SCA5"],"definition":"An autosomal dominant cerebellar ataxia type III that is characterized by the early-onset of cerebellar signs with eye movement abnormalities and a very slow disease progression.","note":null,"url":"https://raremap.alftech.space/d/ORPHA-98766/","orphanet_url":"https://www.orpha.net/en/disease/detail/98766","names":{"fr":{"name":"Ataxie spinocérébelleuse type 5","synonyms":["SCA5"],"definition":"Ataxie cérébelleuse autosomique dominante type III caractérisée par l'apparition précoce des signes du dysfonctionnement cérébelleux et des anomalies des mouvements oculaires, la progression de la maladie étant très lente."},"de":{"name":"Ataxie, spinozerebelläre, Typ 5","synonyms":["SCA5"],"definition":"Eine autosomal-dominante zerebelläre Ataxie vom Typ III, die durch ein frühes Auftreten von zerebellären Symptomen mit Augenbewegungsstörungen und einen sehr langsamen Krankheitsverlauf gekennzeichnet ist."},"es":{"name":"Ataxia espinocerebelosa tipo 5","synonyms":["SCA5"],"definition":"Es una ataxia cerebelosa autosómica dominante de tipo III caracterizada por el inicio temprano de signos cerebelosos con anomalías de los movimientos oculares y una progresión muy lenta de la enfermedad."},"it":{"name":"Atassia spinocerebellare tipo 5","synonyms":["SCA5"],"definition":"L'atassia spinocerebellare tipo 5 (SCA5) è una forma di atassia cerebellare autosomica dominante tipo III, caratterizzata da segni cerebellari a esordio precoce, associati ad anomalie dei movimenti oculari. La progressione della malattia è molto lenta."},"nl":{"name":"Spinocerebellaire ataxie type 5","synonyms":["SCA5"],"definition":"Een autosomaal dominante cerebellaire ataxie type III, gekarakteriseerd door vroeg optredende cerebellaire tekenen met afwijkende oogbeweging en zeer trage progressie van de ziekte."},"pt":{"name":"Ataxia espinocerebelosa tipo 5","synonyms":["SCA5"]},"pl":{"name":"Ataksja rdzeniowo-móżdżkowa typu 5","synonyms":["SCA5"]},"cs":{"name":"Spinocerebelární ataxie, typ 5","synonyms":["SCA5"]},"uk":{"name":"Спіноцеребеллярна атаксія, тип 5","synonyms":["SCA5"],"definition":"An autosomal dominant cerebellar ataxia type III that is characterized by the early-onset of cerebellar signs with eye movement abnormalities and a very slow disease progression."},"zh":{"name":"脊髓小脑共济失调5型","synonyms":["SCA5"],"definition":"一种常染色体显性遗传性小脑性共济失调III型，特点是早发性小脑征，眼球运动异常，疾病进展非常缓慢。"},"tr":{"name":"Spinoserebellar ataksi tip 5","synonyms":["SCA5"]}},"xrefs":[{"source":"OMIM","code":"600224","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":"78905851"},{"source":"MONDO","code":"0010848","qualifier":"E","icd_relation":null,"validated":true},{"source":"UMLS","code":"C0752123","qualifier":"E","icd_relation":null,"validated":true},{"source":"GARD","code":"4953","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":"SPTBN2","name":"spectrin beta, non-erythrocytic 2","gene_type":"gene with protein product","association":"Disease-causing germline mutation(s) in","status":"Assessed","source":"20301317[PMID]","hgnc":"11276","ensembl":"ENSG00000173898","omim":"604985","loci":["11q13.2"]}],"genes_via_subtypes":[],"inheritance":["Autosomal dominant"],"onset":["Adolescent","Adult","Childhood","Elderly"],"prevalence":[{"type":"Cases/families","qualification":"Family(ies)","class":null,"value":5.0,"area":"Worldwide","status":"Validated","source":"25142508[PMID]"},{"type":"Point prevalence","qualification":"Class only","class":"<1 / 1 000 000","value":0.0,"area":"Worldwide","status":"Validated","source":"ORPHANET_[EXPERT]_25142508[PMID]"}],"phenotypes":{"validation_status":"y","online":"y","validation_date":"2017-04-25","source":"7874171[PMID]","terms":[{"hpo":"HP:0001272","label":"Cerebellar atrophy","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0001288","label":"Gait disturbance","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0002311","label":"Incoordination","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0001350","label":"Slurred speech","frequency":"Very frequent (99-80%)","criteria":null}]}}