{"orpha":79136,"name":"Episodic ataxia type 4","type":"Disease","group":"Disorder","status":"active","flags":[],"synonyms":["PATX","Periodic vestibulocerebellar ataxia"],"definition":"A rare form of Hereditary episodic ataxia characterized by late-onset episodic ataxia, recurrent attacks of vertigo, and diplopia.","note":null,"url":"https://raremap.alftech.space/d/ORPHA-79136/","orphanet_url":"https://www.orpha.net/en/disease/detail/79136","names":{"fr":{"name":"Ataxie épisodique type 4","synonyms":["Ataxie vestibulo-cérébelleuse périodique"],"definition":"Forme rare d'ataxie épisodique héréditaire caractérisée par une ataxie épisodique d'apparition tardive, des crises de vertige récurrentes et une diplopie."},"de":{"name":"Ataxie, episodische, Typ 4","synonyms":["Periodische vestibulo-zerebelläre Ataxie (PATX)"]},"es":{"name":"Ataxia episódica tipo 4","definition":"La ataxia episódica tipo 4 (EA4) es una forma muy poco frecuente de ataxia episódica hereditaria (consulte este término) caracterizada por ataxia episódica de inicio tardío, ataques recurrentes de vértigo y diplopía."},"it":{"name":"Atassia episodica, tipo 4","synonyms":["Atassia vestibolocerebellare periodica","PATX"]},"nl":{"name":"Episodische ataxie type 4","synonyms":["PATX","Periodieke vestibulocerebellaire ataxie"],"definition":"Episodische ataxie type 4 (EA4) is een zeer zeldzame vorm van erfelijke episodische ataxie (zie deze term) die wordt gekarakteriseerd door ataxie met late aanvang, terugkerende aanvallen van vertigo, en diplopie."},"pt":{"name":"Ataxia episódica tipo 4","synonyms":["Ataxia vestibulocerebelosa periódica","PATX"]},"pl":{"name":"Epizodyczna ataksja typu 4","synonyms":["Okresowa ataksja przedsionkowo-móżdżkowa","PATX"]},"cs":{"name":"Epizodická ataxie, typ 4","synonyms":["PATX","Periodická vestibulocerebelární ataxie"]},"uk":{"name":"Епізодична атаксія, тип 4","synonyms":["PATX","Періодична вестибуло-мозочкова атаксія"],"definition":"A rare form of Hereditary episodic ataxia characterized by late-onset episodic ataxia, recurrent attacks of vertigo, and diplopia."},"zh":{"name":"发作性共济失调4型","synonyms":["周期性前庭小脑共济失调"]},"tr":{"name":"Epizodik ataksi tip 4","synonyms":["PATX","Periyodik vestibüloserebellar ataksi"]}},"xrefs":[{"source":"OMIM","code":"606552","qualifier":"E","icd_relation":null,"validated":true},{"source":"ICD-10","code":"G11.8","qualifier":"NTBT","icd_relation":"attributed","validated":true},{"source":"ICD-11","code":"8A03.14","qualifier":"NTBT","icd_relation":"index","validated":true,"icd11_uri":"1119711189"},{"source":"MONDO","code":"0011681","qualifier":"E","icd_relation":null,"validated":true},{"source":"MeSH","code":"C564698","qualifier":"E","icd_relation":null,"validated":true},{"source":"UMLS","code":"C1847843","qualifier":"E","icd_relation":null,"validated":true}],"associations":[],"incoming_associations":[],"preferential_parent":{"orpha":98006,"name":"Rare neurologic disease"},"parents":[{"orpha":211062,"name":"Hereditary episodic ataxia","classifications":[156,181]}],"children":[],"genes":[],"genes_via_subtypes":[],"inheritance":["Autosomal dominant"],"onset":["Adult"],"prevalence":[{"type":"Cases/families","qualification":"Family(ies)","class":null,"value":2.0,"area":"Worldwide","status":"Validated","source":"8929156[PMID]"},{"type":"Point prevalence","qualification":"Class only","class":"<1 / 1 000 000","value":0.0,"area":"Worldwide","status":"Validated","source":"ORPHANET_8929156[PMID]"}],"phenotypes":{"validation_status":"y","online":"y","validation_date":"2018-02-05","source":"13944410[PMID]_26264377[PMID]","terms":[{"hpo":"HP:0001251","label":"Ataxia","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0002457","label":"Abnormal head movements","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000617","label":"Abnormality of ocular smooth pursuit","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000651","label":"Diplopia","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0002359","label":"Frequent falls","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000640","label":"Gaze-evoked nystagmus","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0002311","label":"Incoordination","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0002172","label":"Postural instability","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0002321","label":"Vertigo","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0002018","label":"Nausea","frequency":"Occasional (29-5%)","criteria":null}]}}