{"orpha":79135,"name":"Episodic ataxia type 3","type":"Disease","group":"Disorder","status":"active","flags":[],"synonyms":["Episodic ataxia-vertigo-tinnitus-myokymia syndrome"],"definition":"A rare form of Hereditary episodic ataxia characterized by vestibular ataxia, vertigo, tinnitus, and interictal myokymia.","note":null,"url":"https://raremap.alftech.space/d/ORPHA-79135/","orphanet_url":"https://www.orpha.net/en/disease/detail/79135","names":{"fr":{"name":"Ataxie épisodique type 3","synonyms":["Syndrome d'ataxie épisodique-vertige-acouphène-myokymie"],"definition":"Forme rare d'ataxie épisodique héréditaire caractérisée par une ataxie vestibulaire, des vertiges, des acouphènes et une myokymie interictale."},"de":{"name":"Ataxie, episodische, Typ 3","synonyms":["Ataxie, episodische - Vertigo - Tinnitus - Myokymie"]},"es":{"name":"Ataxia episódica tipo 3","synonyms":["Ataxia episódica-vértigo-tinnitus-mioquimia"],"definition":"La ataxia episódica tipo 3 (EA3) es una forma muy poco frecuente de ataxia episódica hereditaria (consulte este término) caracterizada por ataxia vestibular, vértigo, tinnitus y mioquimia interictal."},"it":{"name":"Atassia episodica, tipo 3","synonyms":["Atassia episodica - vertigini - tinnito - miochimia"]},"nl":{"name":"Episodische ataxie type 3","synonyms":["Episodische ataxie - vertigo - tinnitus - myokymie-syndroom"],"definition":"Episodische ataxie type 3 (EA3) is een zeer zeldzame vorm van erfelijke episodische ataxie (zie deze term) die wordt gekarakteriseerd door vestibulaire ataxie, vertigo, tinnitus en interictale myokymie."},"pt":{"name":"Ataxia episódica tipo 3","synonyms":["Síndrome de ataxia episódica-vertigens-tinnitus-mioquimia"]},"pl":{"name":"Epizodyczna ataksja typu 3","synonyms":["Ataksja epizodyczna - zawroty głowy - szumy uzne - miokimia"]},"cs":{"name":"Epizodická ataxie, typ 3","synonyms":["Syndrom zahrnující epizodickou ataxii, vertigo, tinnitus a myokymii"]},"uk":{"name":"Епізодична атаксія, тип 3","synonyms":["Синдром епізодичної атаксії-вертиго-шуму у вухах-міокімії"],"definition":"A rare form of Hereditary episodic ataxia characterized by vestibular ataxia, vertigo, tinnitus, and interictal myokymia."},"zh":{"name":"发作性共济失调3型","synonyms":["发作性共济失调-眩晕-耳鸣-肌纤维颤搐综合征"]},"tr":{"name":"Epizodik ataksi tip 3","synonyms":["Epizodik ataksi-vertigo-tinnitus-miyokimi sendromu"]}},"xrefs":[{"source":"OMIM","code":"606554","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":"1614724528"},{"source":"MONDO","code":"0011682","qualifier":"E","icd_relation":null,"validated":true},{"source":"MeSH","code":"C564697","qualifier":"E","icd_relation":null,"validated":true},{"source":"UMLS","code":"C1847839","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":["All ages"],"prevalence":[{"type":"Point prevalence","qualification":"Class only","class":"<1 / 1 000 000","value":0.0,"area":"Worldwide","status":"Validated","source":"ORPHANET_11673600[PMID]"},{"type":"Cases/families","qualification":"Family(ies)","class":null,"value":1.0,"area":"Worldwide","status":"Validated","source":"11673600[PMID]"}],"phenotypes":{"validation_status":"y","online":"y","validation_date":"2018-12-18","source":"19645908[PMID]_16009908[PMID]_11960817[PMID]_11673600[PMID]_20301317[PMID]","terms":[{"hpo":"HP:0002131","label":"Episodic ataxia","frequency":"Obligate (100%)","criteria":null},{"hpo":"HP:0002321","label":"Vertigo","frequency":"Obligate (100%)","criteria":null},{"hpo":"HP:0002411","label":"Myokymia","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000360","label":"Tinnitus","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0002301","label":"Hemiplegia","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000639","label":"Nystagmus","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0001250","label":"Seizure","frequency":"Occasional (29-5%)","criteria":null}]}}