{"orpha":85292,"name":"X-linked spinocerebellar ataxia type 4","type":"Disease","group":"Disorder","status":"active","flags":[],"synonyms":["SCAX4","X-linked ataxia-dementia syndrome"],"definition":"A rare X-linked spinocerebellar ataxia characterized by ataxia, pyramidal tract signs and adult-onset dementia. The disease manifests during early childhood with delayed walking and tremor. The pyramidal signs appear progressively and by adulthood memory problems and dementia gradually become apparent.","note":null,"url":"https://raremap.alftech.space/d/ORPHA-85292/","orphanet_url":"https://www.orpha.net/en/disease/detail/85292","names":{"fr":{"name":"Ataxie spinocérébelleuse liée à l'X type 4","synonyms":["SCAX4","Syndrome d'ataxie-démence lié à l'X"],"definition":"Ataxie rare liée à l'X caractérisée par des signes pyramidaux et une démence à l'âge adulte. Dans la petite enfance, un retard à la marche et des tremblements apparaissent. L'atteinte pyramidale apparaît progressivement et, à l'âge adulte, des problèmes de mémorisation et une démence progressive s'installent. L'issue est souvent fatale au cours de la sixième décennie."},"de":{"name":"Ataxie, spinozerebelläre X-chromosomale, Typ 4","synonyms":["Ataxia-Demenz-Syndrom, X-chromosomales","SCAX4"],"definition":"Eine seltene X-chromosomale spinozerebelläre Ataxie, die durch Ataxie, Pyramidenbahnzeichen und Demenz im Erwachsenenalter gekennzeichnet ist. Die Krankheit manifestiert sich in der frühen Kindheit mit verzögertem Laufenlernen und Tremor. Die Pyramidenbahnzeichen treten progressiv auf, und im Erwachsenenalter werden allmählich Gedächtnisstörungen und Demenz erkennbar."},"es":{"name":"Ataxia espinocerebelosa ligada al cromosoma X tipo 4","synonyms":["SCAX4","Síndrome de demencia-ataxia ligada al cromosoma X"],"definition":"Es una ataxia espinocerebelosa poco frecuente ligada al cromosoma X caracterizada por ataxia, signos del tracto piramidal y demencia de inicio en la edad adulta. La enfermedad se manifiesta durante la primera infancia con retraso en la adquisición de la marcha y temblores. Los signos piramidales aparecen progresivamente y en la edad adulta se hacen evidentes los problemas de memoria y la demencia de forma gradual."},"it":{"name":"Atassia spinocerebellare legata all'X, tipo 4","synonyms":["SCAX4","Sindrome atassia-demenza, legata all'X"]},"nl":{"name":"X-gebonden spinocerebellaire ataxie type 4","synonyms":["SCAX4","X-gebonden ataxie - dementie-syndroom"],"definition":"Een aandoening, gekenmerkt door ataxie, piramidale verschijnselen, en in de volwassenheid optredende dementie. Het werd beschreven bij drie generaties van één grote familie. De ziekte manifesteert zich tijdens de vroege kindertijd met loopachterstand en tremor. De piramidale verschijnselen lijken progressief, en tegen de volwassenheid worden geheugenproblemen en dementie gradueel merkbaar. Transmissie gebeurt X-gebonden, maar het causale gen werd nog niet geïdentificeerd. De ziekte is meestal fataal in het zesde levensdecennium."},"pt":{"name":"Ataxia espinocerebelosa ligada ao X tipo 4"},"pl":{"name":"Ataksja rdzeniowo-móżdżkowa typu 4 sprzężona z chromosomem X","synonyms":["SCAX4","Zespół ataksja-demencja sprzężony z chromosem X"]},"cs":{"name":"X-vázaná spinocerebelární ataxie, typ 4","synonyms":["SCAX4","X-vázaný syndrom zahrnující ataxii a demenci"]},"uk":{"name":"Х-зчеплена спіноцеребеллярна атаксія, тип 4","synonyms":["SCAX4","Х-зчеплений синдром атаксії-деменції"],"definition":"A rare X-linked spinocerebellar ataxia characterized by ataxia, pyramidal tract signs and adult-onset dementia. The disease manifests during early childhood with delayed walking and tremor. The pyramidal signs appear progressively and by adulthood memory problems and dementia gradually become apparent."},"zh":{"name":"X连锁脊髓小脑共济失调4型","synonyms":["X-连锁共济失调-痴呆综合征"]},"tr":{"name":"X'e bağlı spinoserebellar ataksi tip 4","synonyms":["SCAX4","X'e bağlı ataksi-demans sendromu"]}},"xrefs":[{"source":"OMIM","code":"301840","qualifier":"E","icd_relation":null,"validated":true},{"source":"ICD-10","code":"G11.1","qualifier":"NTBT","icd_relation":"attributed","validated":true},{"source":"ICD-11","code":"8A03.1Y","qualifier":"NTBT","icd_relation":"index","validated":true,"icd11_uri":"1033689736"},{"source":"MONDO","code":"0010534","qualifier":"E","icd_relation":null,"validated":true},{"source":"MeSH","code":"C537316","qualifier":"E","icd_relation":null,"validated":true},{"source":"UMLS","code":"C1844933","qualifier":"E","icd_relation":null,"validated":true},{"source":"GARD","code":"9980","qualifier":"E","icd_relation":null,"validated":true}],"associations":[],"incoming_associations":[],"preferential_parent":{"orpha":93890,"name":"Rare developmental defect during embryogenesis"},"parents":[{"orpha":183500,"name":"Genetic neurodegenerative disease","classifications":[156]},{"orpha":89043,"name":"Rare dementia","classifications":[181]},{"orpha":611314,"name":"Rare syndromic intellectual disability without multiple congenital anomalies/dysmorphic syndrome","classifications":[156,181]},{"orpha":247765,"name":"X-linked cerebellar ataxia","classifications":[156,181]}],"children":[],"genes":[],"genes_via_subtypes":[],"inheritance":["X-linked recessive"],"onset":["Adult"],"prevalence":[{"type":"Cases/families","qualification":"Family(ies)","class":null,"value":1.0,"area":"Worldwide","status":"Validated","source":"3470628[PMID]"},{"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":"2018-04-09","source":"3470628[PMID]","terms":[{"hpo":"HP:0002073","label":"Progressive cerebellar ataxia","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0007256","label":"Abnormal pyramidal sign","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000726","label":"Dementia","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0001288","label":"Gait disturbance","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0002354","label":"Memory impairment","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0001270","label":"Motor delay","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0002174","label":"Postural tremor","frequency":"Frequent (79-30%)","criteria":null}]}}