{"orpha":308,"name":"Progressive myoclonic epilepsy type 1","type":"Disease","group":"Disorder","status":"active","flags":[],"synonyms":["EPM1","Progressive myoclonus epilepsy type 1","ULD","Unverricht-Lundborg disease"],"definition":"A rare progressive myoclonic epilepsy (PME) disorder characterized by action- and stimulus-sensitive myoclonus, and tonic-clonic seizures with ataxia, but with only a mild cognitive decline over time.","note":null,"url":"https://raremap.alftech.space/d/ORPHA-308/","orphanet_url":"https://www.orpha.net/en/disease/detail/308","names":{"fr":{"name":"Epilepsie myoclonique progressive type 1","synonyms":["EPM1","MUL","Maladie de Unverricht-Lundborg"],"definition":"Épilepsie myoclonique progressive (EMP) rare caractérisée par des myoclonies sensibles aux stimuli extérieurs et au mouvement, et par des crises tonico-cloniques avec ataxie, accompagnées d'un léger déclin cognitif au fil du temps."},"de":{"name":"Epilepsie, myoklonische progressive, Typ 1","synonyms":["EPM1","Myoklonusepilepsie, progressive. Typ 1","ULD","Unverricht-Lundborg-Krankheit"],"definition":"Eine seltene progressive myoklonische Epilepsie (PME), die durch aktions- und reizempfindliche Myoklonien und tonisch-klonische Anfälle mit Ataxie gekennzeichnet ist, im Verlauf aber nur eine geringe kognitive Beeinträchtigung zeigt."},"es":{"name":"Epilepsia mioclónica progresiva tipo 1","synonyms":["EMP tipo 1","Enfermedad de Unverricht-Lundborg","Epilepsia progresiva con mioclonías tipo 1","ULD"],"definition":"Es un trastorno de epilepsia mioclónica progresiva (EMP) poco frecuente caracterizado por mioclonías sensibles a la acción y a los estímulos, y crisis tónico-clónicas con ataxia, pero con tan solo una leve afectación cognitiva con el tiempo."},"it":{"name":"Epilessia mioclonica progressiva tipo 1","synonyms":["EPM1","Epilessia mioclonica progressiva tipo 1","Malattia di Unverricht-Lundborg","ULD"],"definition":"L'epilessia mioclonica progressiva tipo 1 è un'epilessia mioclonica progressiva (EMP) rara, caratterizzata dal mioclono indotto dall'azione e dagli stimoli, e dalle crisi epilettiche tonico-cloniche con atassia. Nel tempo si osserva un lieve declino cognitivo."},"nl":{"name":"Progressieve myoclonische epilepsie type 1","synonyms":["EPM1","Progressieve myoclonusepilepsie type 1","ULD","Ziekte van Unverricht-Lundborg"],"definition":"Een zeldzame progressieve myoclonische epilepsie (PME), gekenmerkt door actie- en stimulusgevoelige myoclonus, en tonisch-clonische insulten met ataxie, maar met slechts milde cognitieve achteruitgang na verloop van tijd."},"pt":{"name":"Epilepsia mioclónica progressiva tipo 1","synonyms":["DUL","Doença de Unverricht-Lundborg"],"definition":"Doença rara que cursa com epilepsia mioclónica progressiva (PME) caracterizada por mioclonia sensível a ações e estímulos e convulsões tónico-clónicas com ataxia, decorre ainda um leve declínio cognitivo ao longo do tempo."},"pl":{"name":"Choroba Unverrichta i Lundborga","synonyms":["PME typu 1","Postępująca padaczka miokloniczna typu 1","Postępująca padaczka miokloniczna typu 1","ULD"]},"cs":{"name":"Unverrichtova-Lundborgova nemoc","synonyms":["PME typ 1","Progresivní myoklonická epilepsie, typ 1","ULD","Unverricht-Lundborgova nemoc"]},"uk":{"name":"Прогресуюча міоклонічна епілепсія, тип 1","synonyms":["EPM1","Прогресуюча міоклонусна епілепсія типу 1","ULD","Хвороба Унверріхта-Лундборга"],"definition":"A rare progressive myoclonic epilepsy (PME) disorder characterized by action- and stimulus-sensitive myoclonus, and tonic-clonic seizures with ataxia, but with only a mild cognitive decline over time."},"zh":{"name":"Unverricht-Lundborg病","synonyms":["进行性肌阵挛性癫痫1型"]},"tr":{"name":"Unverricht-Lundborg hastalığı","synonyms":["ULD","PME tip 1","İlerleyici miyoklonik epilepsi tip 1","İlerleyici miyoklonus epilepsi tip 1"]}},"xrefs":[{"source":"OMIM","code":"254800","qualifier":"E","icd_relation":null,"validated":true},{"source":"OMIM","code":"310370","qualifier":"BTNT","icd_relation":null,"validated":true},{"source":"OMIM","code":"612437","qualifier":"BTNT","icd_relation":null,"validated":true},{"source":"ICD-10","code":"G40.3","qualifier":"NTBT","icd_relation":"attributed","validated":true},{"source":"ICD-11","code":"8A61.41","qualifier":"NTBT","icd_relation":"index","validated":true,"icd11_uri":"150954581"},{"source":"MONDO","code":"0009698","qualifier":"E","icd_relation":null,"validated":true},{"source":"MeSH","code":"D020194","qualifier":"E","icd_relation":null,"validated":true},{"source":"UMLS","code":"C0751785","qualifier":"E","icd_relation":null,"validated":true},{"source":"GARD","code":"3876","qualifier":"E","icd_relation":null,"validated":true},{"source":"MedDRA","code":"10054895","qualifier":"E","icd_relation":null,"validated":true}],"associations":[],"incoming_associations":[],"preferential_parent":{"orpha":98006,"name":"Rare neurologic disease"},"parents":[{"orpha":98261,"name":"Progressive myoclonic epilepsy","classifications":[156,181]},{"orpha":611314,"name":"Rare syndromic intellectual disability without multiple congenital anomalies/dysmorphic syndrome","classifications":[156,181]}],"children":[],"genes":[{"symbol":"CSTB","name":"cystatin B","gene_type":"gene with protein product","association":"Disease-causing germline mutation(s) in","status":"Assessed","source":"9012407[PMID]_20301321[PMID]","hgnc":"2482","ensembl":"ENSG00000160213","omim":"601145","loci":["21q22.3"]},{"symbol":"PRICKLE1","name":"prickle planar cell polarity protein 1","gene_type":"gene with protein product","association":"Disease-causing germline mutation(s) in","status":"Assessed","source":"18976727[PMID]","hgnc":"17019","ensembl":"ENSG00000139174","omim":"608500","loci":["12q12"]},{"symbol":"SCARB2","name":"scavenger receptor class B member 2","gene_type":"gene with protein product","association":"Disease-causing germline mutation(s) in","status":"Assessed","source":"19847901[PMID]","hgnc":"1665","ensembl":"ENSG00000138760","omim":"602257","loci":["4q21.1"]}],"genes_via_subtypes":[],"inheritance":["Autosomal recessive"],"onset":["Adolescent","Childhood"],"prevalence":[{"type":"Prevalence at birth","qualification":"Value and class","class":"1-9 / 100 000","value":5.0,"area":"Finland","status":"Validated","source":"20301321[PMID]"},{"type":"Point prevalence","qualification":"Value and class","class":"1-9 / 100 000","value":2.0,"area":"Finland","status":"Validated","source":"20301321[PMID]"}],"phenotypes":{"validation_status":"y","online":"y","validation_date":"2017-03-23","source":"25667885[PMID]","terms":[{"hpo":"HP:0002392","label":"EEG with polyspike wave complexes","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0002070","label":"Limb ataxia","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0007000","label":"Morning myoclonic jerks","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0001336","label":"Myoclonus","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0001251","label":"Ataxia","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0001260","label":"Dysarthria","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0002080","label":"Intention tremor","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000992","label":"Cutaneous photosensitivity","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000726","label":"Dementia","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0001249","label":"Intellectual disability","frequency":"Occasional (29-5%)","criteria":null}]}}