{"orpha":101108,"name":"Spinocerebellar ataxia type 23","type":"Disease","group":"Disorder","status":"active","flags":[],"synonyms":["SCA23"],"definition":"Spinocerebellar ataxia type 23 (SCA23) is a very rare subtype of type I autosomal dominant cerebellar ataxia (ADCA type I). It is characterized by gait ataxia, dysarthria, slowed saccades, ocular dysmetria, Babinski sign and hyperreflexia.","note":null,"url":"https://raremap.alftech.space/d/ORPHA-101108/","orphanet_url":"https://www.orpha.net/en/disease/detail/101108","names":{"fr":{"name":"Ataxie spinocérébelleuse type 23","synonyms":["SCA23"],"definition":"L'ataxie spinocérébelleuse (ASC) de type 23 est une forme très rare d'ataxie cérébelleuse autosomique dominante (ACAD) de type I caractérisée par une démarche ataxique, une dysarthrie, des saccades oculaires lentes, et une dysmétrie oculaire, un signe de Babinski et une hyperréflexie."},"de":{"name":"Ataxie, spinozerebelläre, Typ 23","synonyms":["SCA23"],"definition":"Die Spinozerebelläre Ataxie Typ 23 (SCA23) ist ein sehr seltener Subtyp des Typs I der Autosomal-dominanten zerebellären Ataxie (ADCA Typ I; s. dort) und gekennzeichnet durch Gangataxie, Dysarthrie, verlangsamte Sakkaden, okuläre Dysmetrie, Babinski-Zeichen und Hyperreflexie."},"es":{"name":"Ataxia espinocerebelosa tipo 23","synonyms":["SCA23"],"definition":"La ataxia espinocerebolosa tipo 23 (SCA23) es un subtipo muy poco común de ataxia cerebelosa autosómica dominante tipo 1 (ADCA tipo I). Se caracteriza por ataxia de la marcha, disartria, sacadas lentas, dismetría ocular, signo de Babinski e hiperreflexia."},"it":{"name":"Atassia spinocerebellare, tipo 23","synonyms":["SCA23"],"definition":"L'atassia spinocerebellare tipo 23 (SCA23) è un sottotipo molto raro dell'atassia cerebellare autosomica dominante 1 (ADCA tipo 1; si veda questo termine). È caratterizzata da atassia della marcia, disartria, rallentamento dei movimenti saccadici, dismetria oculare, segno di Babinski e iperreflessia."},"nl":{"name":"Spinocerebellaire ataxie type 23","synonyms":["SCA23"],"definition":"Spinocerebellaire ataxie type 23 (SCA23) is een zeer zeldzaam subtype van type I autosomaal dominante cerebellaire ataxie (ADCA type I; zie deze term). Het is gekenmerkt door gangataxie, dysartrie, tragere saccades, oculaire dysmetrie, Babinskireflex en hyperreflexie."},"pt":{"name":"Ataxia espinocerebelosa tipo 23","synonyms":["SCA23"],"definition":"A ataxia espinocerebelosa tipo 23 (SCA23) é um subtipo muito raro de ataxia cerebelosa autossómica dominante tipo I (ADCA tipo I; ver este termo). Caracteriza-se por ataxia da marcha, disartria, movimentos oculares lentos, dismetria ocular, sinal de Babinski e hiperreflexia."},"pl":{"name":"Ataksja rdzeniowo-móżdżkowa typu 23","synonyms":["SCA23"]},"cs":{"name":"Spinocerebelární ataxie, typ 23","synonyms":["SCA23"]},"uk":{"name":"Спіноцеребеллярна атаксія, тип 23","synonyms":["SCA23"],"definition":"Spinocerebellar ataxia type 23 (SCA23) is a very rare subtype of type I autosomal dominant cerebellar ataxia (ADCA type I; see this term). It is characterized by gait ataxia, dysarthria, slowed saccades, ocular dysmetria, Babinski sign and hyperreflexia."},"zh":{"name":"脊髓小脑共济失调23型","synonyms":["SCA23"],"definition":"脊髓小脑性共济失调23型(SCA23)是I型常染色体显性遗传性小脑性共济失调(ADCAI型，见该词条)的一种非常罕见的亚型。其特征为步态共济失调、构音障碍、眼球跳动减慢、巴宾斯基征和反射亢进。"},"tr":{"name":"Spinoserebellar ataksi tip 23","synonyms":["SCA23"]}},"xrefs":[{"source":"OMIM","code":"610245","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":"1340267869"},{"source":"MONDO","code":"0012449","qualifier":"E","icd_relation":null,"validated":true},{"source":"MeSH","code":"C537201","qualifier":"E","icd_relation":null,"validated":true},{"source":"UMLS","code":"C1853250","qualifier":"E","icd_relation":null,"validated":true},{"source":"GARD","code":"9950","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":"PDYN","name":"prodynorphin","gene_type":"gene with protein product","association":"Disease-causing germline mutation(s) in","status":"Assessed","source":null,"hgnc":"8820","ensembl":"ENSG00000101327","omim":"131340","loci":["20p13"]}],"genes_via_subtypes":[],"inheritance":["Autosomal dominant"],"onset":["Adult"],"prevalence":[{"type":"Cases/families","qualification":"Family(ies)","class":null,"value":4.0,"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":"2018-03-26","source":"15306549[PMID]","terms":[{"hpo":"HP:0002066","label":"Gait ataxia","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0001347","label":"Hyperreflexia","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0002070","label":"Limb ataxia","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0002073","label":"Progressive cerebellar ataxia","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0003487","label":"Babinski sign","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0001260","label":"Dysarthria","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0001310","label":"Dysmetria","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0006886","label":"Impaired distal vibration sensation","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0010831","label":"Impaired proprioception","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000514","label":"Slow saccadic eye movements","frequency":"Frequent (79-30%)","criteria":null}]}}