{"orpha":280620,"name":"Progressive myoclonic epilepsy type 6","type":"Disease","group":"Disorder","status":"active","flags":[],"synonyms":["EPM6","GOSR2-related progressive myoclonus ataxia","North Sea progressive myoclonus epilepsy","PME type 6","Progressive myoclonus epilepsy type 6"],"definition":"A rare, genetic, neurological disorder characterized by early-onset, progressive ataxia associated with myoclonic seizures (frequently associated with other seizure types such as generalized tonic-clonic, absence and drop attacks), scoliosis of variable severity, areflexia, elevated creatine kinase serum levels, and relative preservation of cognitive function until late in the disease course.","note":null,"url":"https://raremap.alftech.space/d/ORPHA-280620/","orphanet_url":"https://www.orpha.net/en/disease/detail/280620","names":{"fr":{"name":"Epilepsie myoclonique progressive type 6","synonyms":["EMP type 6","EPM6","Epilepsie myoclonique progressive associée à GOSR2","PME type 6"],"definition":"Maladie neurologique rare d'origine génétique, caractérisée par une ataxie progressive à début précoce associée à des crises myocloniques (fréquemment accompagnées d'autres types de convulsions, tels que des crises tonicocloniques généralisées, des crises d'absence et des crises avec chute), une scoliose de sévérité variable, une aréflexie, des taux élevés de créatine kinase sérique, la fonction cognitive étant relativement préservée jusqu'à un stade avancé de la maladie."},"de":{"name":"Myoklonusepilepsie, progressive, Typ 6","synonyms":["EPM6","GOSR2-abhängige progressive myoklonische Ataxie","Myoklonusepilepsie, progressive, Nordsee-Typ","PME Typ 6"]},"es":{"name":"Epilepsia mioclónica progresiva tipo 6","synonyms":["Ataxia mioclónica progresiva asociada a GOSR2","Ataxia mioclónica progresiva del mar del Norte","EMP tipo 6","EPM6","Epilepsia progresiva con mioclonías tipo 6"],"definition":"Es un trastorno neurológico poco frecuente de origen genético caracterizado por ataxia progresiva de inicio temprano asociada a crisis mioclónicas (y frecuentemente a otros tipos de crisis, tales como tónico-clónicas generalizadas, de ausencia y de caída), escoliosis de gravedad variable, arreflexia, niveles elevados de creatinquinasa sérica y una función cognitiva relativamente respetada hasta una fase tardía en el curso de la enfermedad."},"it":{"name":"Epilessia mioclonica progressiva, tipo 6","synonyms":["Atassia progressiva da mioclono GOSR2-correlata","EPM6","Epilessia progressiva da mioclono del Mar del Nord","Epilessia progressiva da mioclono, tipo 6","PME, tipo 6"],"definition":"È una malattia neurologica rara di origine genetica ad esordio precoce, caratterizzata da atassia progressiva associata a crisi epilettiche miocloniche (spesso con altri tipi di crisi, come gli attacchi tonico-clonico generalizzati, le assenze e le cadute), scoliosi di gravità variabile, areflessia e livelli elevati di creatina chinasi nel siero. La funzione cognitiva è relativamente conservata fino agli stadi più avanzati della malattia."},"nl":{"name":"Progressieve myoclonische epilepsie type 6","synonyms":["EPM6","GOSR2-gerelateerde progressieve myoclonusataxie","Noordzee progressieve myoclonusepilepsie","PME type 6","Progressieve myoclonusepilepsie type 6"],"definition":"Een zeldzame, genetische, neurologische stoornis die gekarakteriseerd wordt door vroege aanvang van progressieve ataxie geassocieerd met myoclonische insulten (frequent geassocieerd met andere types insult zoals gegeneraliseerd tonisch-clonisch, absence en valaanvallen), scoliose met variabele gradaties van ernst, areflexie, verhoogde gehaltes creatinekinase in het serum, en relatief behoud van cognitieve functie tot laat in het ziekteverloop."},"pt":{"name":"Epilepsia mioclónica progressiva tipo 6"},"pl":{"name":"Postępująca padaczka miokloniczna typu 6","synonyms":["EPM6","PME typu 6","Postępująca padaczka miokloniczna Morza Północnego","Postępująca padaczka miokloniczna zależna od GOSR2"]},"cs":{"name":"Progresivní myoklonická epilepsie, typ 6","synonyms":["EPM6","GOSR2-vázaná progresivní myoklonická ataxie","PME, typ VI","Progresivní myoklonus a epilepsie, typ VI","Severomořská progresivní myoklonická epilepsie"]},"uk":{"name":"Прогресуюча міоклонічна епілепсія, тип 6","synonyms":["EPM6","Прогресуюча міоклонусна атаксія, повязана з GOSR2","Північно-морська прогресивна міоклонусна епілепсія","PME тип 6","Прогресуюча міоклонусна епілепсія типу 6"],"definition":"A rare, genetic, neurological disorder characterized by early-onset, progressive ataxia associated with myoclonic seizures (frequently associated with other seizure types such as generalized tonic-clonic, absence and drop attacks), scoliosis of variable severity, areflexia, elevated creatine kinase serum levels, and relative preservation of cognitive function until late in the disease course."},"zh":{"name":"进行性肌痉挛6型","synonyms":["GOSR2相关进行性肌痉挛癫痫"],"definition":"进行性肌阵挛性癫痫6型是一种罕见的遗传性神经系统疾病，其特征为早发性、进行性共济失调伴肌阵挛发作（常伴有其他发作类型，如全身性强直-阵挛、失神和跌倒发作）、不同严重程度的脊柱侧弯、神经反射消失、高血清肌酸激酶，及相对保留认知功能直至病程后期。"},"tr":{"name":"İlerleyici miyoklonik epilepsi tip 6","synonyms":["EPM6","PME tip 6","İlerleyici miyoklonus epilepsi tip 6","Kuzey Denizi ilerleyici miyoklonus epilepsisi","GOSR2-ilişkili ilerleyici miyoklonus ataksi"]}},"xrefs":[{"source":"OMIM","code":"614018","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":"index","validated":true,"icd11_uri":"878291417"},{"source":"MONDO","code":"0013526","qualifier":"E","icd_relation":null,"validated":true},{"source":"UMLS","code":"C5190805","qualifier":"E","icd_relation":null,"validated":true},{"source":"GARD","code":"3872","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]}],"children":[],"genes":[{"symbol":"GOSR2","name":"golgi SNAP receptor complex member 2","gene_type":"gene with protein product","association":"Disease-causing germline mutation(s) (loss of function) in","status":"Assessed","source":"21549339[PMID]","hgnc":"4431","ensembl":"ENSG00000108433","omim":"604027","loci":["17q21.32"]}],"genes_via_subtypes":[],"inheritance":["Autosomal recessive"],"onset":["Childhood"],"prevalence":[{"type":"Cases/families","qualification":"Case(s)","class":null,"value":12.0,"area":"Worldwide","status":"Validated","source":"21549339[PMID]_23449775[PMID]"},{"type":"Point prevalence","qualification":"Class only","class":"<1 / 1 000 000","value":0.0,"area":"Worldwide","status":"Validated","source":"ORPHANET_21549339[PMID]_23449775[PMID]"}],"phenotypes":null}