{"orpha":424027,"name":"Progressive myoclonic epilepsy type 8","type":"Disease","group":"Disorder","status":"active","flags":[],"synonyms":["EPM8","PME type 8","Progressive myoclonic epilepsy due to CERS1 deficiency","Progressive myoclonus epilepsy type 8"],"definition":"A rare, genetic, neurological disorder characterized by childhood to adolescent-onset of action myoclonus, generalized tonic-clonic seizures, and slowly progressive, moderate to severe cognitive impairment that may lead to dementia. EEG reveals progressive slowing of background activity and epileptic abnormalities and brain MRI shows cerebellar and brainstem atrophy.","note":null,"url":"https://raremap.alftech.space/d/ORPHA-424027/","orphanet_url":"https://www.orpha.net/en/disease/detail/424027","names":{"fr":{"name":"Epilepsie myoclonique progressive type 8","synonyms":["EMP type 8","EPM8","Epilepsie myoclonique progressive par déficit en CERS1","PME type 8"],"definition":"Maladie neurologique rare d'origine génétique, caractérisée par l'apparition, pendant l'enfance ou l'adolescence, de myoclonies d'action, de crises généralisées tonico-cloniques et de troubles cognitifs modérés à sévères, lentement progressifs, pouvant aller jusqu'à la démence. L'EEG révèle un ralentissement progressif de l'activité de fond et des anomalies épileptiques, et l'IRM cérébrale met en évidence une atrophie du cervelet et du tronc cérébral."},"de":{"name":"Myoklonusepilepsie, progressive, Typ 8","synonyms":["EPM8","Myoklonusepilepsie, progressive, durch CERS1-Mangel","PME Typ 8"]},"es":{"name":"Epilepsia mioclónica progresiva tipo 8","synonyms":["EMP tipo 8","EPM8","Epilepsia mioclónica progresiva por deficiencia de CERS1","Epilepsia progresiva con mioclonías tipo 8"],"definition":"Es un trastorno neurológico, genético y poco frecuente, de inicio en la infancia a la adolescencia, caracterizado por mioclonías de acción, crisis tónico-clónicas generalizadas y deterioro cognitivo de moderado a grave de progresión lenta que puede conducir a demencia. El EEG revela un enlentecimiento progresivo de la actividad de fondo y anomalías epilépticas y la RM cerebral muestra atrofia cerebelosa y del tronco encefálico."},"it":{"name":"Epilessia mioclonica progressiva, tipo 8","synonyms":["EPM8","Epilessia progressiva con mioclonie, da deficit di CERS1","Epilessia progressiva con mioclonie, tipo 8","PME, tipo 8"],"definition":"È una malattia neurologica rara, di origine genetica, che esordisce nell'infanzia o nell'adolescenza con mioclono d'azione, crisi epilettiche tonico-cloniche generalizzate e deficit cognitivo moderato-grave a progressione lenta, che può esitare nella demenza. L'EEG evidenzia un rallentamento progressivo dell'attività di fondo ed anomalie epilettiche, mentre la RMN del cervello evidenzia atrofia del cervelletto e del tronco encefalico."},"nl":{"name":"Progressieve myoclonische epilepsie type 8","synonyms":["EPM8","PME type 8","Progressieve myoclonische epilepsie door CERS1-deficiëntie","Progressieve myoclonusepilepsie type 8"],"definition":"Een zeldzame, genetische, neurologische stoornis die gekarakteriseerd wordt door aanvang in de kindertijd tot adolescentie van actiemyoclonus, gegeneraliseerde tonisch-clonische insulten, en traag progressieve, matige tot ernstige cognitieve stoornis die mogelijk leidt tot dementie. EEG toont progressieve vertraging van achtergrondactiviteit en epileptische afwijkingen, terwijl MRI van de hersenen atrofie van het cerebellum en de hersenstam aantoont."},"pt":{"name":"Epilepsia mioclónica progressiva devido a défice de CERS1"},"pl":{"name":"Postępująca padaczka miokloniczna typu 8","synonyms":["EPM8","PME typu 8","Postępująca padaczka miokloniczna z powodu niedoboru CERS1"]},"cs":{"name":"Progresivní myklonická epilepsie, typ 8","synonyms":["EPM8","PME typ 8","Progresivní myoklonická epilepsie, typ 8","Progresivní myoklonická epilepsie způsobená deficitem CERS1"]},"uk":{"name":"Прогресуюча міоклонічна епілепсія, тип 8","synonyms":["EPM8","PME тип 8","Прогресуюча міоклонічна епілепсія внаслідок дефіциту CERS1","Прогресуюча міоклонусна епілепсія типу 8"],"definition":"A rare, genetic, neurological disorder characterized by childhood to adolescent-onset of action myoclonus, generalized tonic-clonic seizures, and slowly progressive, moderate to severe cognitive impairment that may lead to dementia. EEG reveals progressive slowing of background activity and epileptic abnormalities and brain MRI shows cerebellar and brainstem atrophy."},"zh":{"name":"进行性肌阵挛性癫痫8型","synonyms":["CERS1缺乏导致的进行性肌阵挛性癫痫"],"definition":"一种罕见的遗传性神经系统疾病，其特征是儿童时期至青春期发作性肌阵挛，全身性强直阵挛性癫痫发作以及缓慢进行性的中度至重度的认知障碍，可能导致痴呆。脑电图显示逐渐减慢的背景活动和癫痫异常，脑部MRI显示小脑和脑干萎缩。"},"tr":{"name":"İlerleyici miyoklonik epilepsi tip 8","synonyms":["EPM8","PME tip 8","İlerleyici miyoklonus epilepsi tip 8","CERS1 eksikliğine bağlı İlerleyici miyoklonik epilepsi"]}},"xrefs":[{"source":"OMIM","code":"616230","qualifier":"E","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":"attributed","validated":true,"icd11_uri":"null"},{"source":"MONDO","code":"0014545","qualifier":"E","icd_relation":null,"validated":true},{"source":"UMLS","code":"C5190825","qualifier":"E","icd_relation":null,"validated":true}],"associations":[],"incoming_associations":[],"preferential_parent":{"orpha":98006,"name":"Rare neurologic disease"},"parents":[{"orpha":352306,"name":"Disorder of phospholipids, sphingolipids and fatty acids biosynthesis with central nervous system predominant involvement","classifications":[150,156]},{"orpha":68385,"name":"Neurometabolic disease","classifications":[156,181]},{"orpha":98261,"name":"Progressive myoclonic epilepsy","classifications":[156,181]}],"children":[],"genes":[{"symbol":"CERS1","name":"ceramide synthase 1","gene_type":"gene with protein product","association":"Disease-causing germline mutation(s) in","status":"Assessed","source":"24782409[PMID]","hgnc":"14253","ensembl":"ENSG00000223802","omim":"606919","loci":["19p13.11"]}],"genes_via_subtypes":[],"inheritance":["Autosomal recessive"],"onset":["Adolescent","Childhood"],"prevalence":[{"type":"Cases/families","qualification":"Case(s)","class":null,"value":4.0,"area":"Worldwide","status":"Validated","source":"24782409[PMID]"},{"type":"Point prevalence","qualification":"Class only","class":"<1 / 1 000 000","value":0.0,"area":"Worldwide","status":"Validated","source":"ORPHANET_24782409[PMID]"}],"phenotypes":null}