{"orpha":97,"name":"Familial paroxysmal ataxia","type":"Disease","group":"Disorder","status":"active","flags":[],"synonyms":["Episodic ataxia type 2"],"definition":"A form of hereditary episodic ataxia (EA) characterized by paroxysmal episodes of ataxia lasting hours, with interictal nystagmus and mildly progressive ataxia.","note":null,"url":"https://raremap.alftech.space/d/ORPHA-97/","orphanet_url":"https://www.orpha.net/en/disease/detail/97","names":{"fr":{"name":"Ataxie paroxystique familiale","synonyms":["Ataxie épisodique type 2"],"definition":"Forme d'ataxie épisodique héréditaire caractérisée par des épisodes paroxystiques d'ataxie qui durent des heures, associés à un nystagmus interictal et à une ataxie lentement progressive."},"de":{"name":"Ataxie, paroxysmale, familiäre","synonyms":["Ataxie, episodische, Typ 2"],"definition":"Eine Form der hereditären episodischen Ataxie (EA), die durch stundenlange paroxysmale Ataxie-Episoden mit interiktalem Nystagmus und leicht fortschreitender Ataxie gekennzeichnet ist."},"es":{"name":"Ataxia paroxística familiar","synonyms":["Ataxia episódica tipo 2"],"definition":"Es una forma de ataxia episódica (AE) hereditaria caracterizada por episodios paroxísticos de ataxia que duran horas, con nistagmo interictal y ataxia levemente progresiva."},"it":{"name":"Atassia parossistica familiare","synonyms":["Atassia episodica, tipo 2"]},"nl":{"name":"Familiale paroxysmale ataxie","synonyms":["Episodische ataxie type 2"],"definition":"Een vorm van erfelijke episodische ataxie (EA), gekenmerkt door urenlange paroxysmale episodes van ataxie, met interictale nystagmus en mild progressieve ataxie."},"pt":{"name":"Ataxia paroxística familiar","synonyms":["Ataxia episódica tipo 2"]},"pl":{"name":"Rodzinna ataksja napadowa","synonyms":["Ataksja okresowa typu 2"],"definition":"Postać dziedzicznej ataksji epizodycznej, która charakteryzuje się napadowymi epizodami ataksji trwającymi godzinami, z oczopląsem międzynapadowym i łagodnie postępującą ataksją."},"cs":{"name":"Familiární paroxysmální ataxie","synonyms":["Epizodická ataxie, typ 2"]},"uk":{"name":"Сімейна пароксизмальна атаксія","synonyms":["Епізодична атаксія типу 2"],"definition":"A form of hereditary episodic ataxia (EA) characterized by paroxysmal episodes of ataxia lasting hours, with interictal nystagmus and mildly progressive ataxia."},"zh":{"name":"家族性发作性共济失调","synonyms":["发作性共济失调2型"]},"tr":{"name":"Ailesel paroksismal ataksi","synonyms":["Epizodik ataksi tip 2"]}},"xrefs":[{"source":"OMIM","code":"108500","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":"1470995662"},{"source":"MONDO","code":"0007163","qualifier":"E","icd_relation":null,"validated":true},{"source":"UMLS","code":"C1720416","qualifier":"E","icd_relation":null,"validated":true},{"source":"GARD","code":"9602","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]},{"orpha":98745,"name":"Neurological channelopathy of the central nervous system due to a genetic calcium channel defect","classifications":[156]}],"children":[],"genes":[{"symbol":"CACNA1A","name":"calcium voltage-gated channel subunit alpha1 A","gene_type":"gene with protein product","association":"Disease-causing germline mutation(s) (loss of function) in","status":"Assessed","source":"20301674[PMID]","hgnc":"1388","ensembl":"ENSG00000141837","omim":"601011","loci":["19p13.13"]}],"genes_via_subtypes":[],"inheritance":["Autosomal dominant"],"onset":["Childhood"],"prevalence":[{"type":"Point prevalence","qualification":"Class only","class":"1-9 / 1 000 000","value":0.0,"area":"United States","status":"Not yet validated","source":"20301674[PMID]"},{"type":"Point prevalence","qualification":"Class only","class":"Unknown","value":0.0,"area":"Worldwide","status":"Not yet validated","source":"ORPHANET"}],"phenotypes":{"validation_status":"y","online":"y","validation_date":"2018-02-21","source":"20301674[PMID]_20129625[PMID]","terms":[{"hpo":"HP:0001251","label":"Ataxia","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0000639","label":"Nystagmus","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0002321","label":"Vertigo","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0000651","label":"Diplopia","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0001260","label":"Dysarthria","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0001332","label":"Dystonia","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0002301","label":"Hemiplegia","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0002076","label":"Migraine","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0002017","label":"Nausea and vomiting","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000360","label":"Tinnitus","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000708","label":"Atypical behavior","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0006855","label":"Cerebellar vermis atrophy","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0001249","label":"Intellectual disability","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000473","label":"Torticollis","frequency":"Occasional (29-5%)","criteria":null}]}}