{"orpha":211062,"name":"Hereditary episodic ataxia","type":"Category","group":"Group of disorders","status":"active","flags":[],"synonyms":[],"definition":"A group of rare hereditary ataxia characterized by recurrent episodes of ataxia and vertigo which may be progressive. Weakness, dystonia and ataxia are sometimes present in the interictal period. Seven types of episodic ataxia have been described to date (type 1 to type 7), but most of the reported cases are belong to type 1 and 2.","note":null,"url":"https://raremap.alftech.space/d/ORPHA-211062/","orphanet_url":"https://www.orpha.net/en/disease/detail/211062","names":{"fr":{"name":"Ataxie épisodique héréditaire","definition":"Groupe d'ataxies héréditaires rares caractérisées par des épisodes récurrents d'ataxie et de vertige qui peuvent être progressifs. Une faiblesse, une dystonie et une ataxie interictales s'observent dans certains cas. Sept types d'EA ont été décrits à ce jour (allant de 1 à 7), mais la plupart des cas rapportés sont de type 1 et de type 2."},"de":{"name":"Episodische Ataxie, hereditäre","definition":"Eine Gruppe seltener hereditärer Ataxien, die durch wiederkehrende Episoden von Ataxie und Schwindel gekennzeichnet sind, die progressiv sein können. In der interiktalen Periode treten manchmal Schwäche, Dystonie und Ataxie auf. Bislang wurden sieben Typen von episodischer Ataxie beschrieben (Typ 1 bis Typ 7), die meisten der gemeldeten Fälle gehören jedoch zu Typ 1 und 2."},"es":{"name":"Ataxia episódica hereditaria","definition":"Es un grupo de ataxias hereditarias poco frecuentes caracterizadas por episodios recurrentes de ataxia y vértigo, que pueden ser progresivos. Algunos pacientes presentan debilidad, distonía y ataxia durante el período interictal. Hasta la fecha, se han descrito siete tipos de ataxia episódica (del tipo 1 al 7), pero la mayoría de los casos descritos pertenecen a los tipos 1 y 2."},"it":{"name":"Atassia episodica ereditaria"},"nl":{"name":"Erfelijke episodische ataxie","definition":"Een groep van zeldzame erfelijke ataxie, gekenmerkt door recidiverende episodes van ataxie en vertigo die progressief kunnen zijn. Tussen de aanvallen (interictale periode) kunnen soms zwakheid, dystonie en ataxie voorkomen. Tot op heden werden zeven types van episodische ataxie beschreven (type 1 tot type 7), maar de meeste gerapporteerde gevallen behoren tot type 1 en type 2."},"pt":{"name":"Ataxia episódica hereditária"},"pl":{"name":"Dziedziczna ataksja epizodyczna"},"cs":{"name":"Hereditární epizodická ataxie"},"uk":{"name":"Спадкова епізодична атаксія","definition":"Hereditary episodic ataxia (EA) represents a group of neurological disorders characterized by recurrent episodes of ataxia and vertigo which may be progressive. Weakness, dystonia and ataxia are sometimes present in the interictal period. Seven types of EA have been described to date (EA type 1 to EA type 7, see these terms), but most of the reported cases belong to EA1 and EA2."},"zh":{"name":"遗传性周期性小脑共济失调","definition":"遗传性发作性共济失调（EA）是一种以反复发作的共济失调和眩晕为特征的神经系统疾病，病情可发生进展。发作间期可出现乏力、张力失调和共济失调。迄今为止已经描述了七种类型的EA（EA1型到EA7型，见该术语），但大多数报告的病例属于EA1和EA2。"},"tr":{"name":"Kalıtsal epizodik ataksi"}},"xrefs":[{"source":"ICD-11","code":"8A03.14","qualifier":"E","icd_relation":"specific","validated":true,"icd11_uri":"423095680"},{"source":"MONDO","code":"0016227","qualifier":"E","icd_relation":null,"validated":true},{"source":"MONDO","code":"16227","qualifier":"E","icd_relation":null,"validated":true},{"source":"MeSH","code":"C580065","qualifier":"E","icd_relation":null,"validated":true},{"source":"UMLS","code":"C1720189","qualifier":"E","icd_relation":null,"validated":true}],"associations":[],"incoming_associations":[],"preferential_parent":{"orpha":98006,"name":"Rare neurologic disease"},"parents":[{"orpha":183518,"name":"Hereditary ataxia","classifications":[156,181]}],"children":[{"orpha":37612,"name":"Episodic ataxia type 1","type":"Disease"},{"orpha":79135,"name":"Episodic ataxia type 3","type":"Disease"},{"orpha":79136,"name":"Episodic ataxia type 4","type":"Disease"},{"orpha":211067,"name":"Episodic ataxia type 5","type":"Disease"},{"orpha":209967,"name":"Episodic ataxia type 6","type":"Disease"},{"orpha":209970,"name":"Episodic ataxia type 7","type":"Disease"},{"orpha":401953,"name":"Episodic ataxia with slurred speech","type":"Disease"},{"orpha":97,"name":"Familial paroxysmal ataxia","type":"Disease"}],"genes":[],"genes_via_subtypes":[],"inheritance":[],"onset":[],"prevalence":[{"type":"Point prevalence","qualification":"Class only","class":"1-9 / 100 000","value":0.0,"area":"Worldwide","status":"Not yet validated","source":"ORPHANET"}],"phenotypes":null}