{"orpha":101110,"name":"Spinocerebellar ataxia type 20","type":"Disease","group":"Disorder","status":"active","flags":[],"synonyms":["SCA20"],"definition":"Spinocerebellar ataxia type 20 (SCA20) is a very rare subtype of type I autosomal dominant cerebellar ataxia (ADCA type I). It is characterized by cerebellar dysarthria as the initial typical manifestation.","note":null,"url":"https://raremap.alftech.space/d/ORPHA-101110/","orphanet_url":"https://www.orpha.net/en/disease/detail/101110","names":{"fr":{"name":"Ataxie spinocérébelleuse type 20","synonyms":["SCA20"],"definition":"L'ataxie spinocérébelleuse (ASC) de type 20 est une forme très rare d'ataxie cérébelleuse autosomique dominante (ACAD) de type I. Elle est caractérisée par une dysarthrie cérébelleuse qui typiquement inaugure la maladie."},"de":{"name":"Ataxie, spinozerebelläre, Typ 20","synonyms":["SCA20"],"definition":"Die Spinozerebelläre Ataxie Typ 20 (SCA20) ist ein sehr seltener Subtyp des Typs I der Autosomal-dominanten zerebellären Ataxie (ADCA Typ I; s. dort) und gekennzeichnet durch zerebelläre Dysarthrie als typischem erstem Symptom."},"es":{"name":"Ataxia espinocerebolosa tipo 20","synonyms":["SCA20"],"definition":"La ataxia espinocerebolosa tipo 20 (SCA20) es un subtipo muy poco común de ataxia cerebelosa autosómica dominante tipo 1 (ADCA tipo I; consulte este término). Se caracteriza por disartria cerebelosa como manifestación típica inicial."},"it":{"name":"Atassia spinocerebellare, tipo 20","synonyms":["SCA20"],"definition":"L'atassia spinocerebellare tipo 20 (SCA20) è un sottotipo molto raro dell'atassia cerebellare autosomica dominante tipo 1 (ADCA tipo 1; si veda questo termine). È caratterizzata da disartria cerebellare, il segno tipico all'esordio."},"nl":{"name":"Spinocerebellaire ataxie type 20","synonyms":["SCA20"],"definition":"Spinocerebellaire ataxie type 20 (SCA20) is een zeer zeldzaam subtype van type I autosomaal dominante cerebellaire ataxie (ADCA type I; zie deze term). Het is gekenmerkt door cerebellaire dysartrie als eerste typische manifestatie."},"pt":{"name":"Ataxia espinocerebelosa tipo 20","synonyms":["SCA20"],"definition":"A ataxia espinocerebelosa tipo 20 (SCA20) é um subtipo muito raro de ataxia cerebelosa autossómica dominante tipo I (ADCA tipo I; ver este termo). Caracteriza-se por disartria cerebelosa como manifestação típica inicial."},"pl":{"name":"Ataksja rdzeniowo-móżdżkowa typu 20","synonyms":["SCA20"]},"cs":{"name":"Spinocerebelární ataxie, typ 20","synonyms":["SCA20"]},"uk":{"name":"Спіноцеребеллярна атаксія, тип 20","synonyms":["SCA20"],"definition":"Spinocerebellar ataxia type 20 (SCA20) is a very rare subtype of type I autosomal dominant cerebellar ataxia (ADCA type I; see this term). It is characterized by cerebellar dysarthria as the initial typical manifestation."},"zh":{"name":"脊髓小脑共济失调20型","synonyms":["SCA20"],"definition":"脊髓小脑性共济失调20型(SCA20)是I型常染色体显性遗传小脑性共济失调(ADCAI型，见该词条)的一种非常罕见的亚型。以小脑构音障碍为首发典型表现。"},"tr":{"name":"Spinoserebellar ataksi tip 20","synonyms":["SCA20"]}},"xrefs":[{"source":"OMIM","code":"608687","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":"960716995"},{"source":"MONDO","code":"0012098","qualifier":"E","icd_relation":null,"validated":true},{"source":"MeSH","code":"C537199","qualifier":"E","icd_relation":null,"validated":true},{"source":"UMLS","code":"C1837541","qualifier":"E","icd_relation":null,"validated":true},{"source":"GARD","code":"9997","qualifier":"E","icd_relation":null,"validated":true}],"associations":[],"incoming_associations":[],"preferential_parent":{"orpha":98006,"name":"Rare neurologic disease"},"parents":[{"orpha":94145,"name":"Autosomal dominant cerebellar ataxia type I","classifications":[156,181]}],"children":[],"genes":[{"symbol":"SCA20","name":"spinocerebellar ataxia 20","gene_type":"Disorder-associated locus","association":"Disease-causing germline mutation(s) in","status":"Assessed","source":null,"hgnc":"17204","ensembl":null,"omim":null,"loci":["11q12"]}],"genes_via_subtypes":[],"inheritance":["Autosomal dominant"],"onset":["Adult"],"prevalence":[{"type":"Cases/families","qualification":"Case(s)","class":null,"value":20.0,"area":"Worldwide","status":"Validated","source":"[EXPERT]"},{"type":"Point prevalence","qualification":"Class only","class":"<1 / 1 000 000","value":0.0,"area":"Worldwide","status":"Validated","source":"ORPHANET"}],"phenotypes":{"validation_status":"y","online":"y","validation_date":"2018-03-12","source":"14998916[PMID]_20301644[PMID]","terms":[{"hpo":"HP:0001260","label":"Dysarthria","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0002067","label":"Bradykinesia","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0001272","label":"Cerebellar atrophy","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0002514","label":"Cerebral calcification","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0001618","label":"Dysphonia","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0007338","label":"Hypermetric saccades","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0012049","label":"Laryngeal dystonia","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0030188","label":"Tremor by anatomical site","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0007256","label":"Abnormal pyramidal sign","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0001251","label":"Ataxia","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0010545","label":"Downbeat nystagmus","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0002066","label":"Gait ataxia","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000640","label":"Gaze-evoked nystagmus","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0001347","label":"Hyperreflexia","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0030185","label":"Isometric tremor","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0030186","label":"Kinetic tremor","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0007351","label":"Upper limb postural tremor","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0002321","label":"Vertigo","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0002080","label":"Intention tremor","frequency":"Very rare (<4-1%)","criteria":null}]}}