{"orpha":98756,"name":"Spinocerebellar ataxia type 2","type":"Disease","group":"Disorder","status":"active","flags":[],"synonyms":["SCA2"],"definition":"Spinocerebellar ataxia type 2 (SCA2) is a subtype of type I autosomal dominant cerebellar ataxia (ADCA type I) characterized by truncal ataxia, dysarthria, slowed saccades and less commonly ophthalmoparesis and chorea.","note":null,"url":"https://raremap.alftech.space/d/ORPHA-98756/","orphanet_url":"https://www.orpha.net/en/disease/detail/98756","names":{"fr":{"name":"Ataxie spinocérébelleuse type 2","synonyms":["SCA2"],"definition":"L'ataxie spinocérébelleuse (ASC) de type 2 est une forme d'ataxie cérébelleuse autosomique dominante (ACAD) de type I caractérisée par une ataxie du tronc, une dysarthrie, des saccades oculaires lentes avec parfois ophtalmoparésie, et une chorée."},"de":{"name":"Ataxie, spinozerebelläre, Typ 2","synonyms":["SCA2"],"definition":"Die Spinozerebelläre Ataxie Typ 2 (SCA2) ist ein Subtyp des Typs I der Autosomal-dominanten zerebellären Ataxie (ADCA Typ I; s. dort) und gekennzeichnet durch Stammataxie, Dysarthrie, verlangsamte Sakkaden und, seltener, durch Augenlähmung und Chorea."},"es":{"name":"Ataxia espinocerebelosa tipo 2","synonyms":["SCA2"],"definition":"La ataxia espinocerebelosa tipo 2 (SCA2) es un subtipo de ataxia cerebelosa autosómica dominante tipo 1 (ADCA tipo I) caracterizada por ataxia troncal, disartria, sacadas lentas y, con menor frecuencia, oftalmoparesia y corea."},"it":{"name":"Atassia spinocerebellare, tipo 2","synonyms":["SCA2"],"definition":"L'atassia spinocerebellare tipo 2 (SCA2) è un sottotipo dell'atassia cerebellare autosomica dominante tipo 1 (ADCA tipo I; si veda questo termine), caratterizzata da atassia del tronco, disartria, rallentamento dei movimenti saccadici e, meno frequentemente, oftalmoparesi e corea."},"nl":{"name":"Spinocerebellaire ataxie type 2","synonyms":["SCA2"],"definition":"Spinocerebellaire ataxie type 2 (SCA2) is een subtype van type I autosomaal dominante cerebellaire ataxie (ADCA type I; zie deze term), gekarakteriseerd door rompataxie, dysartrie, tragere saccades en, minder vaak, oftalmoparese en chorea."},"pt":{"name":"Ataxia espinocerebelosa tipo 2","synonyms":["SCA2"],"definition":"A ataxia espinocerebelosa tipo 2 (SCA2) é um subtipo de ataxia cerebelosa autossómica dominante do tipo I (ADCA tipo I; ver este termo), caracterizada por ataxia truncal, disartria, sacadas desaceleradas e menos frequentemente oftalmoparésia e coreia."},"pl":{"name":"Ataksja rdzeniowo-móżdżkowa typu 2","synonyms":["SCA2"]},"cs":{"name":"Spinocerebelární ataxie, typ 2","synonyms":["SCA2"]},"uk":{"name":"Спіноцеребеллярна атаксія, тип 2","synonyms":["SCA2"],"definition":"Spinocerebellar ataxia type 2 (SCA2) is a subtype of type I autosomal dominant cerebellar ataxia (ADCA type I; see this term) characterized by truncal ataxia, dysarthria, slowed saccades and less commonly ophthalmoparesis and chorea."},"zh":{"name":"脊髓小脑共济失调2型","synonyms":["SCA2"],"definition":"脊髓小脑共济失调2型(SCA2)是I型常染色体显性遗传性小脑共济失调(ADCAI型，见该词条)的一个亚型，其特征是躯干性共济失调、构音障碍、眼球扫视减慢以及较少见的眼瘫和舞蹈症。"},"tr":{"name":"Spinoserebellar ataksi tip 2","synonyms":["SCA2"]}},"xrefs":[{"source":"OMIM","code":"183090","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":"1232187870"},{"source":"MONDO","code":"0008458","qualifier":"E","icd_relation":null,"validated":true},{"source":"UMLS","code":"C0752121","qualifier":"E","icd_relation":null,"validated":true},{"source":"GARD","code":"4072","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]},{"orpha":158266,"name":"Huntington disease-like syndrome","classifications":[156,181]},{"orpha":519341,"name":"Rare brainstem or cerebellar disorder with ophthalmic involvement as a major feature","classifications":[189]},{"orpha":522506,"name":"Rare genetic brainstem or cerebellar disorder with ophthalmic involvement as a major feature","classifications":[156]}],"children":[],"genes":[{"symbol":"ATXN2","name":"ataxin 2","gene_type":"gene with protein product","association":"Disease-causing germline mutation(s) in","status":"Assessed","source":null,"hgnc":"10555","ensembl":"ENSG00000204842","omim":"601517","loci":["12q24.12"]}],"genes_via_subtypes":[],"inheritance":["Autosomal dominant"],"onset":["All ages"],"prevalence":[{"type":"Point prevalence","qualification":"Value and class","class":"1-9 / 100 000","value":1.5,"area":"Worldwide","status":"Validated","source":"[EXPERT]"}],"phenotypes":{"validation_status":"y","online":"y","validation_date":"2018-02-19","source":"20301452[PMID]_2392220[PMID]_20301452[PMID]_9106530[PMID]_9158145[PMID]_2809629[PMID]_12847080[PMID]_2809629[PMID]","terms":[{"hpo":"HP:0045007","label":"Abnormality of the substantia nigra","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0002073","label":"Progressive cerebellar ataxia","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0025461","label":"Abnormal cell morphology","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0003133","label":"Abnormality of the spinocerebellar tracts","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0012082","label":"Cerebellar Purkinje layer atrophy","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0002072","label":"Chorea","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000726","label":"Dementia","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0001260","label":"Dysarthria","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0001332","label":"Dystonia","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0002380","label":"Fasciculations","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0002066","label":"Gait ataxia","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0001290","label":"Generalized hypotonia","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0001265","label":"Hyporeflexia","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0030186","label":"Kinetic tremor","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0003394","label":"Muscle spasm","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000639","label":"Nystagmus","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0006955","label":"Olivopontocerebellar hypoplasia","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0002174","label":"Postural tremor","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000514","label":"Slow saccadic eye movements","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0008311","label":"Spinal cord posterior columns myelin loss","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000623","label":"Supranuclear ophthalmoplegia","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0002536","label":"Abnormal cortical gyration","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0002120","label":"Cerebral cortical atrophy","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0012762","label":"Cerebral white matter atrophy","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0006801","label":"Hyperactive deep tendon reflexes","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000597","label":"Ophthalmoparesis","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0001300","label":"Parkinsonism","frequency":"Occasional (29-5%)","criteria":null}]}}