{"orpha":98772,"name":"Spinocerebellar ataxia type 19/22","type":"Disease","group":"Disorder","status":"active","flags":[],"synonyms":["SCA19/22"],"definition":"Spinocerebellar ataxia type 19 (SCA19) is a very rare subtype of type I autosomal dominant cerebellar ataxia (ADCA type I). It is characterized by mild cerebellar ataxia, cognitive impairment, low scores on the Wisconsin Card Sorting Test measuring executive function, myoclonus, and postural tremor.","note":null,"url":"https://raremap.alftech.space/d/ORPHA-98772/","orphanet_url":"https://www.orpha.net/en/disease/detail/98772","names":{"fr":{"name":"Ataxie spinocérébelleuse type 19/22","synonyms":["SCA19/22"],"definition":"L'ataxie spinocérébelleuse (ASC) de type 19 est une forme très rare d'ataxie cérébelleuse autosomique dominante (ACAD) de type I caractérisée par une ataxie cérébelleuse légère, un déficit cognitif, des troubles dysexécutifs (avec de faibles scores au Wisconsin Card Sorting Test) des myoclonies et un tremblement d'attitude."},"de":{"name":"Ataxie, spinozerebelläre, Typ 19/22","synonyms":["SCA19","SCA19/22"],"definition":"Die Spinozerebelläre Ataxie Typ 19 (SCA19) ist ein sehr seltener Subtyp des Typs I der Autosomal-dominanten zerebellären Ataxie (ADCA Typ I; s. dort) und gekennzeichnet durch milde zerebelläre Ataxie, kognitive Einschränkung, niedrige Scores im die Handlungsfunktion messenden Wisconsin Card Sorting Test, Myoklonus und Haltungstremor."},"es":{"name":"Ataxia espinocerebelosa tipo 19/22","synonyms":["SCA19/22"],"definition":"La ataxia espinocerebelosa tipo 19 (SCA19) es un subtipo muy poco común de ataxia cerebelosa autosómica dominante tipo 1 (ADCA tipo I). Se caracteriza por ataxia cerebelosa leve, deterioro cognitivo, puntuaciones bajas en las pruebas de Clasificación de tarjetas de Wisconsin (Wisconsin Card Sorting Test) que evalúan la función ejecutiva, mioclono y temblor postural."},"it":{"name":"Atassia spinocerebellare, tipo 19/22","synonyms":["SCA19/22"],"definition":"L'atassia spinocerebellare tipo 19 (SCA19) è un sottotipo molto raro dell'atassia cerebellare autosomica dominante tipo 1 (ADCA tipo 1; si veda questo termine). È caratterizzata da lieve atassia cerebellare, deficit cognitivo, punteggi bassi al Wisconsin Card Sorting Test (test per la misurazione della funzione esecutiva), mioclono e tremore posturale."},"nl":{"name":"Spinocerebellaire ataxie type 19/22","synonyms":["SCA19/22"],"definition":"Spinocerebellaire ataxie type 19 (SCA19) is een zeer zeldzaam subtype van type I autosomaal dominante cerebellaire ataxie (ADCA type I; zie deze term), gekarakteriseerd door milde cerebellaire ataxie, cognitieve beperkingen, een lage score op de Wisconsin Card Sorting Test waarmee de executieve functies worden beoordeeld, myoclonus en houdingstremor."},"pt":{"name":"Ataxia espinocerebelosa tipo 19/22","synonyms":["SCA19/22"],"definition":"A ataxia espinocerebelosa tipo 19 (SCA19) é um subtipo muito raro de ataxia cerebelosa autossómica dominante tipo I (ADCA tipo I; ver este termo). É caracterizada por ataxia cerebelosa ligeira, comprometimento cognitivo, pontuações baixas no <i>Wisconsin Card Sorting Test<i/>, que mede a função executiva, mioclonia e tremor postural."},"pl":{"name":"Ataksja rdzeniowo-móżdżkowa typu 19/22","synonyms":["Ataksja rdxeniowo-móżdżkowa typu 19/22"]},"cs":{"name":"Spinocerebelární ataxie, typ 19/22","synonyms":["SCA19/22"]},"uk":{"name":"Спіноцеребеллярна атаксія, тип 19/22","synonyms":["SCA19/22"],"definition":"Spinocerebellar ataxia type 19 (SCA19) is a very rare subtype of type I autosomal dominant cerebellar ataxia (ADCA type I; see this term). It is characterized by mild cerebellar ataxia, cognitive impairment, low scores on the Wisconsin Card Sorting Test measuring executive function, myoclonus, and postural tremor."},"zh":{"name":"脊髓小脑共济失调19/22型","synonyms":["SCA19/22"],"definition":"脊髓小脑性共济失调19型(SCA19)是I型常染色体显性遗传性小脑共济失调(ADCAI型，见该词条)的一种非常罕见的亚型。它的特点是轻度小脑共济失调，认知障碍，测量执行能力的威斯康星卡片分类测试得分低，肌阵挛和姿势震颤。"},"tr":{"name":"Spinoserebellar ataksi tipi 19/22","synonyms":["SCA19 / 22"]}},"xrefs":[{"source":"OMIM","code":"607346","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":"BTNT","icd_relation":"index","validated":true,"icd11_uri":"1835077432"},{"source":"MONDO","code":"0011819","qualifier":"E","icd_relation":null,"validated":true},{"source":"MeSH","code":"C537198","qualifier":"E","icd_relation":null,"validated":true},{"source":"UMLS","code":"C5235656","qualifier":"E","icd_relation":null,"validated":true},{"source":"GARD","code":"12365","qualifier":"E","icd_relation":null,"validated":true}],"associations":[],"incoming_associations":[{"type":"Moved to","orpha":101107,"name":"Spinocerebellar ataxia type 22","status":"inactive"}],"preferential_parent":{"orpha":98006,"name":"Rare neurologic disease"},"parents":[{"orpha":94145,"name":"Autosomal dominant cerebellar ataxia type I","classifications":[156,181]},{"orpha":98746,"name":"Neurological channelopathy of the central nervous system due to a genetic potassium channel defect","classifications":[156]}],"children":[],"genes":[{"symbol":"KCND3","name":"potassium voltage-gated channel subfamily D member 3","gene_type":"gene with protein product","association":"Disease-causing germline mutation(s) in","status":"Assessed","source":"22890214[PMID]","hgnc":"6239","ensembl":"ENSG00000171385","omim":"605411","loci":["1p13.2"]}],"genes_via_subtypes":[],"inheritance":["Autosomal dominant"],"onset":["Adult"],"prevalence":[{"type":"Cases/families","qualification":"Case(s)","class":null,"value":12.0,"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":"2018-04-27","source":"23280837[PMID]_12764052[PMID]","terms":[{"hpo":"HP:0001251","label":"Ataxia","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0001288","label":"Gait disturbance","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0001272","label":"Cerebellar atrophy","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0001347","label":"Hyperreflexia","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0001265","label":"Hyporeflexia","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0006938","label":"Impaired vibration sensation at ankles","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0002070","label":"Limb ataxia","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0002172","label":"Postural instability","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0002078","label":"Truncal ataxia","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000020","label":"Urinary incontinence","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0002136","label":"Broad-based gait","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0002396","label":"Cogwheel rigidity","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000651","label":"Diplopia","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0001260","label":"Dysarthria","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0007772","label":"Impaired smooth pursuit","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000639","label":"Nystagmus","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000602","label":"Ophthalmoplegia","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0002370","label":"Poor coordination","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0001350","label":"Slurred speech","frequency":"Occasional (29-5%)","criteria":null}]}}