{"orpha":209970,"name":"Episodic ataxia type 7","type":"Disease","group":"Disorder","status":"active","flags":[],"synonyms":[],"definition":"Episodic ataxia type 7 (EA7) is an exceedingly rare form of Hereditary episodic ataxia characterized by ataxia with weakness, vertigo, and dysarthria without interictal findings.","note":null,"url":"https://raremap.alftech.space/d/ORPHA-209970/","orphanet_url":"https://www.orpha.net/en/disease/detail/209970","names":{"fr":{"name":"Ataxie épisodique type 7","definition":"Forme extrêmement rare d'ataxie épisodique héréditaire caractérisée par une ataxie accompagnée de faiblesse, de vertiges et de dysarthrie en l'absence de manifestations interictales."},"de":{"name":"Ataxie, episodische, Typ 7"},"es":{"name":"Ataxia episódica tipo 7","definition":"Es una forma extremadamente infrecuente de ataxia episódica hereditaria caracterizada por ataxia con debilidad, vértigo y disartria sin signos interictales."},"it":{"name":"Atassia episodica, tipo 7"},"nl":{"name":"Episodische ataxie type 7","definition":"Episodische ataxie type 7 (EA7) is een uiterst zeldzame vorm van erfelijke episodische ataxie (zie deze term) die wordt gekarakteriseerd door ataxie met spierzwakte, vertigo, en dysartrie zonder interictale bevindingen."},"pt":{"name":"Ataxia episódica tipo 7"},"pl":{"name":"Ataksja epizodyczna typu 7"},"cs":{"name":"Epizodická ataxie, typ 7"},"uk":{"name":"Епізодична атаксія, тип 7","definition":"Episodic ataxia type 7 (EA7) is an exceedingly rare form of Hereditary episodic ataxia (see this term) characterized by ataxia with weakness, vertigo, and dysarthria without interictal findings."},"zh":{"name":"发作性共济失调7型","definition":"发作性共济失调7型（EA7）是一种极罕见的遗传性发作性共济失调（见该术语），其主要临床表现为共济失调伴无力、眩晕和构音障碍，发作间期正常。"},"tr":{"name":"Epizodik ataksi tip 7"}},"xrefs":[{"source":"OMIM","code":"611907","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":"1855038011"},{"source":"MONDO","code":"0012755","qualifier":"E","icd_relation":null,"validated":true},{"source":"MeSH","code":"C567459","qualifier":"E","icd_relation":null,"validated":true},{"source":"UMLS","code":"C2677843","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":["Childhood"],"prevalence":[{"type":"Cases/families","qualification":"Case(s)","class":null,"value":7.0,"area":"Worldwide","status":"Validated","source":"ORPHANET_17502476[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":"2018-05-22","source":"17502476[PMID]","terms":[{"hpo":"HP:0001260","label":"Dysarthria","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0002131","label":"Episodic ataxia","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0001324","label":"Muscle weakness","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0002321","label":"Vertigo","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0000639","label":"Nystagmus","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0100543","label":"Cognitive impairment","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000651","label":"Diplopia","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0002487","label":"Hyperkinetic movements","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0002076","label":"Migraine","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0002411","label":"Myokymia","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000360","label":"Tinnitus","frequency":"Occasional (29-5%)","criteria":null}]}}