{"orpha":86814,"name":"Familial adult myoclonic epilepsy","type":"Disease","group":"Disorder","status":"active","flags":[],"synonyms":["ADCME","Autosomal dominant cortical myoclonus and epilepsy","BAFME","Benign adult familial myoclonus epilepsy","FAME","FCMTE","Familial cortical myoclonic tremor and epilepsy"],"definition":"Benign adult familial myoclonic epilepsy (BAFME) is an inherited epileptic syndrome characterized by cortical hand tremors, myoclonic jerks and occasional generalized or focal seizures with a non-progressive or very slowly progressive disease course, and no signs of early dementia or cerebellar ataxia.","note":null,"url":"https://raremap.alftech.space/d/ORPHA-86814/","orphanet_url":"https://www.orpha.net/en/disease/detail/86814","names":{"fr":{"name":"Epilepsie myoclonique bénigne familiale de l'adulte","synonyms":["ADCME","BAFME","Epilepsie myoclonique familiale de l'adulte","FAME","FCMTE","Myoclonie corticale-épilepsie, autosomique dominante","Tremblement myoclonique cortical familial et épilepsie"],"definition":"L'épilepsie myoclonique bénigne familiale chez l'adulte (EMBFA) est un syndrome épileptique héréditaire caractérisé par des tremblements corticaux des mains, des secousses myocloniques et occasionnellement des crises généralisées ou localisées avec une évolution non progressive ou très lentement progressive, sans signe de démence précoce ou d'ataxie cérébelleuse."},"de":{"name":"Familiäre adulte myoklonische Epilepsie","synonyms":["ADCME","BAFME","FAME","FCMTE","Kortikale Myoklonie und Epilepsie, autosomal-dominant","Kortikaler myokloner Tremor und Epilepsie, familiäre Form","Myoklonusepilepsie, adulte, familiäre Form"],"definition":"Die Benigne adulte familiäre Myoklonus-Epilepsie (BAFME) ist ein erbliches Epilepsie-Syndrom und gekennzeichnet durch kortikalen Handtremor, Myoklonien und gelegentliche generalisierte oder fokale Krampfanfälle mit nicht oder sehr langsam progredientem Krankheitsverlauf und fehlenden Zeichen früher Demenz oder zerebellärer Ataxie."},"es":{"name":"Epilepsia mioclónica familiar del adulto","synonyms":["ADCME","BAFME","Epilepsia mioclónica benigna familiar del adulto","FAME","FCMTE","Mioclonía cortical y epilepsia autosómica dominante","Temblor mioclónico cortical familiar y epilepsia"],"definition":"La epilepsia mioclónica benigna adulta familiar (BAFME) es un síndrome epiléptico hereditario caracterizado por temblores corticales de las manos, tirones mioclónicos y ocasionalmente convulsiones generalizados o focales con un curso de la enfermedad no progresivo o de progresión muy lenta, y sin signos de una demencia temprana o una ataxia cerebelosa."},"it":{"name":"Epilessia mioclonica familiare dell'adulto","synonyms":["ADCME","BAFME","Epilessia e mioclonia corticale autosomica dominante","Epilessia e tremore mioclonico corticale familiare","FAME","FCMTE"],"definition":"L'epilessia mioclonica familiare benigna dell'adulto (BAFME) è una sindrome epilettica ereditaria caratterizzata da tremori corticali alle mani, scosse miocloniche, convulsioni occasionali generalizzate o focali a evoluzione non progressiva o lentamente progressiva, senza demenza precoce o atassia cerebellare."},"nl":{"name":"Familiale adulte myoclonische epilepsie","synonyms":["ADCME","Autosomaal dominante corticale myoclonus en epilepsie","BAFME","FAME","FCMTE","Familiale corticale myoclonische tremor en epilepsie","Familiale myoclonusepilepsie bij volwassene","Goedaardige familiale myoclonusepilepsie op volwassen leeftijd"],"definition":"Goedaardige volwassen familiale myoclonische epilepsie (BAFME) is een erfelijk epileptisch syndroom gekenmerkt door corticale handtremoren, myoclonische trekkingen en soms gegeneraliseerde of focale insulten met een niet-progressief of zeer langzaam progressief ziekteverloop, en zonder tekenen van vroege dementie of cerebellaire ataxie."},"pt":{"name":"Epilepsia mioclónica do adulto familiar","synonyms":["ADCME","BAFME","Epilepsia e mioclonia cortical autossómica dominante","Epilepsia e tremor mioclónico cortical familiar","Epilepsia mioclónica do adulto benigna familiar","FAME","FCMTE"],"definition":"A epilepsia mioclónica benigna familiar do adulto (BAFME) é uma síndrome epiléptica hereditária caracterizada por tremor damão cortical, mioclonias e, ocasionalmente, convulsões generalizadas ou focais com um curso de doença não progressivo ou muito lentamente progressivo, e sem sinais de demência precoce ou ataxia cerebelar."},"pl":{"name":"Łagodna rodzinna padaczka miokloniczna dorosłych","synonyms":["ADCME","Autosomalne dominujące korowe mioklonie i padaczka","BAFME","FAME","FCMTE","Rodzinna padaczka miokloniczna dorosłych","Rodzinne korowe miokloniczne drżenia i padaczka"]},"cs":{"name":"Benigní adultní familiární myoklonická epilepsie","synonyms":["ADCME","BAFME","FAME","FCMTE","Familiární adultní myoklonická epilepsie","Familiární kortikální myoklonický tremor a epilepsie","Autozomálně dominantní kortikální myoklonus a epilepsie"]},"uk":{"name":"Доброякісна сімейна міоклонічна епілепсія у дорослих","synonyms":["ADCME","Аутосомно-домінантний кортикальний міоклонус та епілепсія","BAFME","Доброякісна сімейна міоклонусна епілепсія у дорослих","СЛАВА","Сімейна міоклонічна епілепсія у дорослих","Сімейний кортикальний міоклонічний тремор та епілепсія","FCMTE"],"definition":"Benign adult familial myoclonic epilepsy (BAFME) is an inherited epileptic syndrome characterized by cortical hand tremors, myoclonic jerks and occasional generalized or focal seizures with a non-progressive or very slowly progressive disease course, and no signs of early dementia or cerebellar ataxia."},"zh":{"name":"良性成人家族性肌阵挛癫痫","synonyms":["常染色体显性遗传性皮质肌阵挛震颤性癫痫"]},"tr":{"name":"Selim erişkin ailesel miyoklonik epilepsi","synonyms":["FAME","ADCME","BAFME","FCMTE","Ailesel erişkin miyoklonik epilepsi","Selim erişkin ailesel miyoklonus epilepsisi","Ailesel kortikal miyoklonik tremor ve epilepsi","Otozomal dominant kortikal miyoklonus ve epilepsi"]}},"xrefs":[{"source":"OMIM","code":"601068","qualifier":"E","icd_relation":null,"validated":true},{"source":"OMIM","code":"607876","qualifier":"BTNT","icd_relation":null,"validated":true},{"source":"OMIM","code":"613608","qualifier":"BTNT","icd_relation":null,"validated":true},{"source":"OMIM","code":"615127","qualifier":"BTNT","icd_relation":null,"validated":true},{"source":"OMIM","code":"615400","qualifier":"BTNT","icd_relation":null,"validated":true},{"source":"OMIM","code":"618074","qualifier":"BTNT","icd_relation":null,"validated":true},{"source":"OMIM","code":"618075","qualifier":"BTNT","icd_relation":null,"validated":true},{"source":"ICD-10","code":"G40.3","qualifier":"NTBT","icd_relation":"attributed","validated":true},{"source":"ICD-11","code":"8A61.32","qualifier":"E","icd_relation":"specific","validated":true,"icd11_uri":"1036649329"},{"source":"MONDO","code":"0019448","qualifier":"E","icd_relation":null,"validated":true},{"source":"UMLS","code":"C4273988","qualifier":"E","icd_relation":null,"validated":true}],"associations":[],"incoming_associations":[],"preferential_parent":{"orpha":98006,"name":"Rare neurologic disease"},"parents":[{"orpha":306750,"name":"Primary myoclonus","classifications":[156,181]},{"orpha":699645,"name":"Variable age-onset epilepsy syndrome","classifications":[156,181]}],"children":[],"genes":[{"symbol":"ADRA2B","name":"adrenoceptor alpha 2B","gene_type":"gene with protein product","association":"Disease-causing germline mutation(s) (gain of function) in","status":"Assessed","source":"24114805[PMID]","hgnc":"282","ensembl":"ENSG00000274286","omim":"104260","loci":["2q11.2"]},{"symbol":"CNTN2","name":"contactin 2","gene_type":"gene with protein product","association":"Disease-causing germline mutation(s) in","status":"Assessed","source":"23518707[PMID]","hgnc":"2172","ensembl":"ENSG00000184144","omim":"190197","loci":["1q32.1"]},{"symbol":"CTNND2","name":"catenin delta 2","gene_type":"gene with protein product","association":"Disease-causing germline mutation(s) in","status":"Assessed","source":"29127138[PMID]","hgnc":"2516","ensembl":"ENSG00000169862","omim":"604275","loci":["5p15.2"]},{"symbol":"MARCHF6","name":"membrane associated ring-CH-type finger 6","gene_type":"gene with protein product","association":"Disease-causing germline mutation(s) in","status":"Assessed","source":"31664039[PMID]","hgnc":"30550","ensembl":"ENSG00000145495","omim":"613297","loci":["5p15.2"]},{"symbol":"RAPGEF2","name":"Rap guanine nucleotide exchange factor 2","gene_type":"gene with protein product","association":"Disease-causing germline mutation(s) in","status":"Assessed","source":"29507423[PMID]","hgnc":"16854","ensembl":"ENSG00000109756","omim":"609530","loci":["4q32.1"]},{"symbol":"SAMD12","name":"sterile alpha motif domain containing 12","gene_type":"gene with protein product","association":"Disease-causing germline mutation(s) in","status":"Assessed","source":"29939203[PMID]","hgnc":"31750","ensembl":"ENSG00000177570","omim":"618073","loci":["8q24.11-q24.12"]},{"symbol":"TNRC6A","name":"trinucleotide repeat containing adaptor 6A","gene_type":"gene with protein product","association":"Disease-causing germline mutation(s) in","status":"Assessed","source":"29507423[PMID]_33040085[PMID]","hgnc":"11969","ensembl":"ENSG00000090905","omim":"610739","loci":["16p12.1"]},{"symbol":"YEATS2","name":"YEATS domain containing 2","gene_type":"gene with protein product","association":"Disease-causing germline mutation(s) in","status":"Assessed","source":"31539032[PMID]","hgnc":"25489","ensembl":"ENSG00000163872","omim":"613373","loci":["3q27.1"]}],"genes_via_subtypes":[],"inheritance":["Autosomal dominant"],"onset":["All ages"],"prevalence":[{"type":"Point prevalence","qualification":"Value and class","class":"1-9 / 100 000","value":2.8,"area":"Japan","status":"Validated","source":"15508931[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":"2016-06-01","source":null,"terms":[{"hpo":"HP:0002353","label":"EEG abnormality","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0002378","label":"Hand tremor","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0001336","label":"Myoclonus","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0007359","label":"Focal-onset seizure","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0002197","label":"Generalized-onset seizure","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0100576","label":"Amaurosis fugax","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0002315","label":"Headache","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0001249","label":"Intellectual disability","frequency":"Occasional (29-5%)","criteria":null}]}}