{"orpha":98758,"name":"Spinocerebellar ataxia type 6","type":"Disease","group":"Disorder","status":"active","flags":[],"synonyms":["SCA6"],"definition":"An autosomal dominant cerebellar ataxia type III that is characterized by late-onset and slowly progressive gait ataxia and other cerebellar signs such as impaired muscle coordination and nystagmus.","note":null,"url":"https://raremap.alftech.space/d/ORPHA-98758/","orphanet_url":"https://www.orpha.net/en/disease/detail/98758","names":{"fr":{"name":"Ataxie spinocérébelleuse type 6","synonyms":["SCA6"],"definition":"Ataxie cérébelleuse autosomique dominante type III qui se caractérise par une ataxie de la marche à apparition tardive et à progression lente et par d'autres signes de dysfonctionnement cérébelleux, tels que l'altération de la coordination musculaire et le nystagmus."},"de":{"name":"Ataxie, spinozerebelläre, Typ 6","synonyms":["SCA6"],"definition":"Die spinozerebelläre Ataxie Typ 6 ist ein Untertyp der autosomal-dominanten vererbten zerebellären Ataxie Typ 3 (ADCA Typ 3). Sie ist durch eine spät einsetzende und langsam fortschreitende Gangataxie und andere zerebelläre Anzeichen wie eine beeinträchtigte Muskelkoordination und Nystagmus gekennzeichnet."},"es":{"name":"Ataxia espinocerebelosa tipo 6","synonyms":["SCA6"],"definition":"Es una ataxia cerebelosa autosómica dominante de tipo III caracterizada por marcha atáxica de aparición tardía y progresión lenta acompañada de otros signos cerebelosos tales como alteración de la coordinación muscular y nistagmo."},"it":{"name":"Atassia spinocerebellare tipo 6","synonyms":["SCA6"],"definition":"L'atassia spinocerebellare tipo 6 (SCA6) è una forma di atassia cerebellare autosomica dominate tipo III, caratterizzata da andatura atassica ad esordio tardivo e progressione lenta, associata ad altri segni cerebellari, come la compromissione del coordinamento muscolare e il nistagmo."},"nl":{"name":"Spinocerebellaire ataxie type 6","synonyms":["SCA6"],"definition":"Een autosomaal dominante cerebellaire ataxie type III (ADCA type III), gekarakteriseerd door laat aanvangende en traag progressieve gangataxie en andere cerebellaire tekenen zoals gebrekkige coördinatie van spieren en nystagmus."},"pt":{"name":"Ataxia espinocerebelosa, tipo 6","synonyms":["SCA6"]},"pl":{"name":"Ataksja rdzeniowo-móżdżkowa typu 6","synonyms":["SCA6"]},"cs":{"name":"Spinocerebelární ataxie, typ 6","synonyms":["SCA6"]},"uk":{"name":"Спіноцеребеллярна атаксія, тип 6","synonyms":["SCA6"],"definition":"An autosomal dominant cerebellar ataxia type III that is characterized by late-onset and slowly progressive gait ataxia and other cerebellar signs such as impaired muscle coordination and nystagmus."},"zh":{"name":"脊髓小脑共济失调6型","synonyms":["SCA6"],"definition":"常染色体显性遗传性小脑共济失调III型，特征是起病晚、进展缓慢的步态共济失调和其他小脑征，例如肌肉协调性受损和眼球震颤。"},"tr":{"name":"Spinoserebellar ataksi tip 6","synonyms":["SCA6"]}},"xrefs":[{"source":"OMIM","code":"183086","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":"1056119281"},{"source":"MONDO","code":"0008457","qualifier":"E","icd_relation":null,"validated":true},{"source":"UMLS","code":"C0752124","qualifier":"E","icd_relation":null,"validated":true},{"source":"GARD","code":"10351","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]},{"orpha":98745,"name":"Neurological channelopathy of the central nervous system due to a genetic calcium channel defect","classifications":[156]}],"children":[],"genes":[{"symbol":"CACNA1A","name":"calcium voltage-gated channel subunit alpha1 A","gene_type":"gene with protein product","association":"Disease-causing germline mutation(s) in","status":"Assessed","source":"20301317[PMID]","hgnc":"1388","ensembl":"ENSG00000141837","omim":"601011","loci":["19p13.13"]}],"genes_via_subtypes":[],"inheritance":["Autosomal dominant"],"onset":["Adolescent","Adult","Elderly"],"prevalence":[{"type":"Point prevalence","qualification":"Class only","class":"1-9 / 1 000 000","value":0.0,"area":"Worldwide","status":"Validated","source":"23331413[PMID]"},{"type":"Point prevalence","qualification":"Value and class","class":"1-9 / 100 000","value":1.7,"area":"Japan","status":"Validated","source":"19169038[PMID]"}],"phenotypes":{"validation_status":"y","online":"y","validation_date":"2018-02-20","source":"20301319[PMID]_12700909[PMID]","terms":[{"hpo":"HP:0030511","label":"Bradyopsia","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0002066","label":"Gait ataxia","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0007979","label":"Gaze-evoked horizontal nystagmus","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0002311","label":"Incoordination","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0002080","label":"Intention tremor","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0000639","label":"Nystagmus","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0002172","label":"Postural instability","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0002073","label":"Progressive cerebellar ataxia","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0002317","label":"Unsteady gait","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0000504","label":"Abnormality of vision","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0003487","label":"Babinski sign","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0030842","label":"Choking episodes","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000651","label":"Diplopia","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0002015","label":"Dysphagia","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0001347","label":"Hyperreflexia","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0010544","label":"Vertical nystagmus","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000643","label":"Blepharospasm","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0001260","label":"Dysarthria","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0001332","label":"Dystonia","frequency":"Occasional (29-5%)","criteria":null}]}}