{"orpha":98761,"name":"Spinocerebellar ataxia type 10","type":"Disease","group":"Disorder","status":"active","flags":[],"synonyms":["SCA10"],"definition":"Spinocerebellar ataxia type 10 (SCA10) is a subtype of type I autosomal dominant cerebellar ataxia (ADCA type I). It is characterized by slowly progressive cerebellar syndrome and epilepsy, sometimes mild pyramidal signs, peripheral neuropathy and neuropsychological disturbances.","note":null,"url":"https://raremap.alftech.space/d/ORPHA-98761/","orphanet_url":"https://www.orpha.net/en/disease/detail/98761","names":{"fr":{"name":"Ataxie spinocérébelleuse type 10","synonyms":["SCA10"],"definition":"L'ataxie spinocérébelleuse (ASC) de type 10 est une forme d'ataxie cérébelleuse autosomique dominante (ACAD) de type I caractérisée par un syndrome cérébelleux lentement progressif et une épilepsie, des signes pyramidaux parfois discrets, une neuropathie périphérique et des troubles neuropsychologiques."},"de":{"name":"Ataxie, spinozerebelläre, Typ 10","synonyms":["SCA10"],"definition":"Die Spinozerebelläre Ataxie Typ 10 (SCA10) ist ein Subtyp des Typs I der Autosomal-dominanten zerebellären Ataxie (ADCA Typ I; s. dort) und gekennzeichnet durch langsam progredientes Kleinhirnsyndrom, Epilepsie und manchmal leichte Pyramidenzeichen, periphere Neuropathie und neuropsychologische Störungen. Der häufigste Anfallstyp sind generalisierte motorische Krämpfe, aber auch partiell-motorische und partiell-komplexe Anfälle können auftreten."},"es":{"name":"Ataxia espinocerebelosa tipo 10","synonyms":["SCA10"],"definition":"La ataxia espinocerebelosa tipo 10 (SCA10) es un subtipo de ataxia cerebelosa autosómica dominante tipo 1 (ADCA tipo I). Se caracteriza por un síndrome cerebeloso de progresión lenta y epilepsia, y a veces por signos piramidales leves, neuropatía periférica y alteraciones neuropsicológicas."},"it":{"name":"Atassia spinocerebellare, tipo 10","synonyms":["SCA10"],"definition":"L'atassia spinocerebellare tipo 10 (SCA10) è un sottotipo dell'atassia cerebellare autosomica dominante tipo 1 (ADCA tipo 1; si veda questo termine). È caratterizzata da una sindrome cerebellare a progressione lenta, epilessia e, a volte, segni piramidali, neuropatia periferica e disturbi neuropsicologici."},"nl":{"name":"Spinocerebellaire ataxie type 10","synonyms":["SCA10"],"definition":"Spinocerebellaire ataxie type 10 (SCA10) is een subtype van type I autosomaal dominante cerebellaire ataxie (ADCA type I; zie deze term), gekarakteriseerd door een langzaam progressief cerebellair syndroom en epilepsie, soms lichte piramidale verschijnselen, perifere neuropathie en neuropsychologische stoornissen."},"pt":{"name":"Ataxia espinocerebelosa tipo 10","synonyms":["SCA10"],"definition":"A ataxia espinocerebelosa tipo 10 (SCA10) é um subtipo de ataxia cerebelosa autossómica dominante tipo I (ADCA tipo I; ver este termo). É caracterizada pela progressão lenta de síndrome cerebelosa e epilepsia, por vezes sinais piramidais ligeiros, neuropatia periférica e alterações neuropsicológicas. O tipo mais comum de epilepsia são as convulsões generalizadas, mas podem ocorrer crises parciais motoras ou complexas."},"pl":{"name":"Ataksja rdzeniowo-móżdżkowa typu 10","synonyms":["SCA10"]},"cs":{"name":"Spinocerebelární ataxie, typ 10","synonyms":["SCA10"]},"uk":{"name":"Спіноцеребеллярна атаксія, тип 10","synonyms":["SCA10"],"definition":"Spinocerebellar ataxia type 10 (SCA10) is a subtype of type I autosomal dominant cerebellar ataxia (ADCA type I; see this term). It is characterized by slowly progressive cerebellar syndrome and epilepsy, sometimes mild pyramidal signs, peripheral neuropathy and neuropsychological disturbances."},"zh":{"name":"脊髓小脑共济失调10型","synonyms":["SCA10"],"definition":"脊髓小脑共济失调10型(SCA10)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。它的特点是缓慢进行性小脑综合征和癫痫，有时轻微的锥体体征，周围神经病变和神经心理障碍。"},"tr":{"name":"Spinoserebellar ataksi tip 10","synonyms":["SCA10"]}},"xrefs":[{"source":"OMIM","code":"603516","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":"157300879"},{"source":"MONDO","code":"0011330","qualifier":"E","icd_relation":null,"validated":true},{"source":"MeSH","code":"C566874","qualifier":"E","icd_relation":null,"validated":true},{"source":"UMLS","code":"C1963674","qualifier":"E","icd_relation":null,"validated":true},{"source":"GARD","code":"10474","qualifier":"E","icd_relation":null,"validated":true}],"associations":[],"incoming_associations":[],"preferential_parent":{"orpha":98006,"name":"Rare neurologic disease"},"parents":[{"orpha":94149,"name":"Autosomal dominant cerebellar ataxia type IV","classifications":[156,181]}],"children":[],"genes":[{"symbol":"ATXN10","name":"ataxin 10","gene_type":"gene with protein product","association":"Disease-causing germline mutation(s) in","status":"Assessed","source":null,"hgnc":"10549","ensembl":"ENSG00000130638","omim":"611150","loci":["22q13.31"]}],"genes_via_subtypes":[],"inheritance":["Autosomal dominant"],"onset":["Adult"],"prevalence":[{"type":"Point prevalence","qualification":"Class only","class":"Unknown","value":0.0,"area":"Worldwide","status":"Not yet validated","source":"ORPHANET"}],"phenotypes":{"validation_status":"y","online":"y","validation_date":"2018-04-24","source":"11506407[PMID]_12164725[PMID]_17620556[PMID]_29624773[PMID]","terms":[{"hpo":"HP:0001260","label":"Dysarthria","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0002066","label":"Gait ataxia","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0002073","label":"Progressive cerebellar ataxia","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0001272","label":"Cerebellar atrophy","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0002075","label":"Dysdiadochokinesis","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0100660","label":"Dyskinesia","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0001310","label":"Dysmetria","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0011198","label":"EEG with generalized epileptiform discharges","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0002141","label":"Gait imbalance","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000640","label":"Gaze-evoked nystagmus","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0002197","label":"Generalized-onset seizure","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0007772","label":"Impaired smooth pursuit","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0002080","label":"Intention tremor","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0030186","label":"Kinetic tremor","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000639","label":"Nystagmus","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0002168","label":"Scanning speech","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0002317","label":"Unsteady gait","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000718","label":"Aggressive behavior","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000741","label":"Apathy","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0003487","label":"Babinski sign","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000716","label":"Depression","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0002384","label":"Focal impaired awareness seizure","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0011153","label":"Focal motor seizure","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0001290","label":"Generalized hypotonia","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0001347","label":"Hyperreflexia","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0001265","label":"Hyporeflexia","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0002061","label":"Lower limb spasticity","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0002360","label":"Sleep abnormality","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0002133","label":"Status epilepticus","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000012","label":"Urinary urgency","frequency":"Occasional (29-5%)","criteria":null}]}}