{"orpha":101112,"name":"Spinocerebellar ataxia type 26","type":"Disease","group":"Disorder","status":"active","flags":[],"synonyms":["SCA26"],"definition":"A very rare subtype of autosomal dominant cerebellar ataxia type III (ADCA type III) characterized by late-onset and slowly progressive cerebellar signs (gait ataxia) and eye movement abnormalities.","note":null,"url":"https://raremap.alftech.space/d/ORPHA-101112/","orphanet_url":"https://www.orpha.net/en/disease/detail/101112","names":{"fr":{"name":"Ataxie spinocérébelleuse type 26","synonyms":["SCA26"],"definition":"Sous-type très rare d'ataxie cérébelleuse autosomique dominante de type III (ADCA de type III) caractérisé par l'apparition tardive des signes du dysfonctionnement cérébelleux à progression lente (ataxie de la marche) et des anomalies des mouvements oculaires."},"de":{"name":"Ataxie, spinozerebelläre, Typ 26","synonyms":["SCA26"],"definition":"Ein sehr seltener Subtyp der autosomal-dominanten zerebellären Ataxie Typ III (ADCA Typ III), der durch spät einsetzende und langsam fortschreitende zerebelläre Symptome (Gangataxie) und Augenbewegungsstörungen gekennzeichnet ist."},"es":{"name":"Ataxia espinocerebolosa tipo 26","synonyms":["SCA26"],"definition":"Es un subtipo muy poco frecuente de ataxia cerebelosa autosómica dominante de tipo III (ADCA tipo III) caracterizada por la aparición tardía y lentamente progresiva de signos cerebelosos (ataxia de la marcha) y anomalías del movimiento ocular."},"it":{"name":"Atassia spinocerebellare tipo 26","synonyms":["SCA26"],"definition":"L'atassia spinocerebellare tipo 26 (SCA26) è un sottotipo molto raro di atassia cerebellare autosomica dominante tipo III (ADCA tipo III); è caratterizzata da segni cerebellari (andatura atassica) ad esordio tardivo e progressione lenta, e da anomalie dei movimenti degli occhi."},"nl":{"name":"Spinocerebellaire ataxie type 26","synonyms":["SCA26"],"definition":"Een zeer zeldzaam subtype van autosomaal dominante cerebellaire ataxie type III (ADCA type III), gekarakteriseerd door cerebellaire indicaties (gangataxie) met late aanvang en trage progressie, en door afwijkingen van de oogbewegingen."},"pt":{"name":"Ataxia espinocerebelosa tipo 26","synonyms":["SCA26"]},"pl":{"name":"Ataksja rdzeniowo-móżdżkowa typu 26","synonyms":["SCA26"]},"cs":{"name":"Spinocerebelární ataxie, typ 26","synonyms":["SCA26"]},"uk":{"name":"Спіноцеребеллярна атаксія, тип 26","synonyms":["SCA26"],"definition":"A very rare subtype of autosomal dominant cerebellar ataxia type III (ADCA type III) characterized by late-onset and slowly progressive cerebellar signs (gait ataxia) and eye movement abnormalities."},"zh":{"name":"脊髓小脑共济失调26型","synonyms":["SCA26"],"definition":"脊髓小脑性共济失调26型是一种非常罕见的常染色体显性遗传小脑性共济失调III型(ADCAIII型)，特征是起病晚、进展缓慢的小脑体征(步态共济失调)和眼球运动异常。"},"tr":{"name":"Spinoserebellar ataksi tip 26","synonyms":["SCA26"]}},"xrefs":[{"source":"OMIM","code":"609306","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":"586976339"},{"source":"MONDO","code":"0012246","qualifier":"E","icd_relation":null,"validated":true},{"source":"MeSH","code":"C537203","qualifier":"E","icd_relation":null,"validated":true},{"source":"UMLS","code":"C1836395","qualifier":"E","icd_relation":null,"validated":true},{"source":"GARD","code":"9995","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]}],"children":[],"genes":[{"symbol":"EEF2","name":"eukaryotic translation elongation factor 2","gene_type":"gene with protein product","association":"Disease-causing germline mutation(s) in","status":"Assessed","source":"23001565[PMID]_20301317[PMID]","hgnc":"3214","ensembl":"ENSG00000167658","omim":"130610","loci":["19p13.3"]}],"genes_via_subtypes":[],"inheritance":["Autosomal dominant"],"onset":["Adult"],"prevalence":[{"type":"Cases/families","qualification":"Family(ies)","class":null,"value":1.0,"area":"Worldwide","status":"Validated","source":"15732118[PMID]"},{"type":"Point prevalence","qualification":"Class only","class":"<1 / 1 000 000","value":0.0,"area":"Worldwide","status":"Validated","source":"ORPHANET_15732118[PMID]"}],"phenotypes":{"validation_status":"y","online":"y","validation_date":"2018-02-21","source":"23331413[PMID]_23001565[PMID]_15732118[PMID]_NBK1138[PMID]","terms":[{"hpo":"HP:0001260","label":"Dysarthria","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0001151","label":"Impaired horizontal smooth pursuit","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:0007240","label":"Progressive gait ataxia","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0001272","label":"Cerebellar atrophy","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000641","label":"Dysmetric saccades","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000639","label":"Nystagmus","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0002078","label":"Truncal ataxia","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0003487","label":"Babinski sign","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0007034","label":"Generalized hyperreflexia","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0002380","label":"Fasciculations","frequency":"Excluded (0%)","criteria":null},{"hpo":"HP:0003470","label":"Paralysis","frequency":"Excluded (0%)","criteria":null},{"hpo":"HP:0001250","label":"Seizure","frequency":"Excluded (0%)","criteria":null},{"hpo":"HP:0003474","label":"Somatic sensory dysfunction","frequency":"Excluded (0%)","criteria":null}]}}