{"orpha":37612,"name":"Episodic ataxia type 1","type":"Disease","group":"Disorder","status":"active","flags":[],"synonyms":["Episodic ataxia with myokymia"],"definition":"A frequent form of Hereditary episodic ataxia characterized by brief episodes of ataxia, neuromyotonia, and continuous interictal myokymia.","note":null,"url":"https://raremap.alftech.space/d/ORPHA-37612/","orphanet_url":"https://www.orpha.net/en/disease/detail/37612","names":{"fr":{"name":"Ataxie épisodique type 1","synonyms":["Ataxie épisodique avec myokymie"],"definition":"Forme fréquente d'ataxie épisodique héréditaire (AE) rare caractérisée par de brefs épisodes d'ataxie, de neuromyotonie et de myokymie interictale persistante."},"de":{"name":"Ataxie, episodische, Typ 1","synonyms":["Ataxie, episodische, mit Myokymie"],"definition":"Eine häufige Form der hereditären episodischen Ataxie, die durch kurze Episoden von Ataxie, Neuromyotonie und kontinuierlicher interiktaler Myokymie gekennzeichnet ist."},"es":{"name":"Ataxia episódica tipo 1","definition":"Es una forma frecuente de ataxia episódica hereditaria caracterizada por breves episodios de ataxia, neuromiotonía y mioquimia interictal continua."},"it":{"name":"Atassia episodica, tipo 1","synonyms":["Atassia episodica con miochimia"]},"nl":{"name":"Episodische ataxie type 1","synonyms":["Episodische ataxie met myokymie"],"definition":"'Episodische ataxie type 1 (EA1) is een frequente vorm van erfelijke episodische ataxie (EA; zie deze term) die wordt gekarakteriseerd door korte periodes van ataxie, neuromyotonie en aanhoudende interictale myokymie.'"},"pt":{"name":"Ataxia episódica tipo 1","synonyms":["Ataxia episódica com mioquimia"]},"pl":{"name":"Ataksja epizodyczna typu 1","synonyms":["Ataksja epizodyczna z miokinią"]},"cs":{"name":"Epizodická ataxie, typ 1","synonyms":["Epizodická ataxie s myokymií"]},"uk":{"name":"Епізодична атаксія, тип 1","synonyms":["Епізодична атаксія з міокімією"],"definition":"A frequent form of Hereditary episodic ataxia characterized by brief episodes of ataxia, neuromyotonia, and continuous interictal myokymia."},"zh":{"name":"发作性共济失调I型","synonyms":["发作性共济失调伴肌纤维颤搐"]},"tr":{"name":"Epizodik ataksi tip 1","synonyms":["Miyokimi ile seyreden epizodik ataksi"]}},"xrefs":[{"source":"OMIM","code":"160120","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":"2135559917"},{"source":"MONDO","code":"0008047","qualifier":"E","icd_relation":null,"validated":true},{"source":"MeSH","code":"C563278","qualifier":"E","icd_relation":null,"validated":true},{"source":"UMLS","code":"C1719788","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":166472,"name":"Monogenic disease with epilepsy","classifications":[156,181]},{"orpha":98746,"name":"Neurological channelopathy of the central nervous system due to a genetic potassium channel defect","classifications":[156]}],"children":[],"genes":[{"symbol":"KCNA1","name":"potassium voltage-gated channel subfamily A member 1","gene_type":"gene with protein product","association":"Disease-causing germline mutation(s) in","status":"Assessed","source":"20301785[PMID]","hgnc":"6218","ensembl":"ENSG00000111262","omim":"176260","loci":["12p13.32"]}],"genes_via_subtypes":[],"inheritance":["Autosomal dominant"],"onset":["Adolescent","Childhood"],"prevalence":[{"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":"2018-04-06","source":"20301785[PMID]","terms":[{"hpo":"HP:0002411","label":"Myokymia","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0002370","label":"Poor coordination","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0002172","label":"Postural instability","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0000622","label":"Blurred vision","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0002312","label":"Clumsiness","frequency":"Frequent (79-30%)","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:0002315","label":"Headache","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000975","label":"Hyperhidrosis","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0003394","label":"Muscle spasm","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0003552","label":"Muscle stiffness","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0002018","label":"Nausea","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0002321","label":"Vertigo","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0008981","label":"Calf muscle hypertrophy","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0001272","label":"Cerebellar atrophy","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0001266","label":"Choreoathetosis","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0005461","label":"Craniofacial disproportion","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000750","label":"Delayed speech and language development","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0001188","label":"Hand clenching","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0001276","label":"Hypertonia","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0002751","label":"Kyphoscoliosis","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0001270","label":"Motor delay","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0002486","label":"Myotonia","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0002098","label":"Respiratory distress","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0002650","label":"Scoliosis","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0001328","label":"Specific learning disability","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0030051","label":"Tip-toe gait","frequency":"Occasional (29-5%)","criteria":null}]}}