{"orpha":402082,"name":"Progressive myoclonic epilepsy type 5","type":"Disease","group":"Disorder","status":"active","flags":[],"synonyms":["EPM5","PME type 5","Progressive myoclonus epilepsy type 5"],"definition":"A rare, genetic neurological disorder characterized by early-onset progressive ataxia associated with myoclonic seizures, generalized tonic-clonic seizures (which are often sleep-related), and normal to mild intellectual disability. Dysarthria, upward gaze palsy, sensory neuropathy, developmental delay and autistic disorder have also been associated.","note":null,"url":"https://raremap.alftech.space/d/ORPHA-402082/","orphanet_url":"https://www.orpha.net/en/disease/detail/402082","names":{"fr":{"name":"Epilepsie myoclonique progressive type 5","synonyms":["EMP type 5","EPM5","PME type 5"],"definition":"Maladie neurologique génétique rare caractérisée par une ataxie progressive précoce associée à des crises myocloniques, des crises tonicocloniques généralisées (souvent liées au sommeil) et une déficience intellectuelle modérée à légère. Une dysarthrie, une paralysie du regard vertical, une neuropathie sensorielle, un retard de développement et des troubles du spectre de l'autisme ont également été associés."},"de":{"name":"Myoklonusepilepsie, progressive, Typ 5","synonyms":["EPM5","PME Typ 5"]},"es":{"name":"Epilepsia mioclónica progresiva tipo 5","synonyms":["EMP tipo 5","EPM5","Epilepsia progresiva con mioclonías tipo 5"],"definition":"Es un trastorno neurológico, genético y poco frecuente, caracterizado por ataxia progresiva de inicio temprano asociada a crisis mioclónicas y tónico-clónicas generalizadas (que a menudo están relacionadas con el sueño) y discapacidad intelectual de normal a leve. Este trastorno también asocia disartria, parálisis de la mirada hacia arriba, neuropatía sensitiva, retraso del desarrollo y trastorno autista."},"it":{"name":"Epilessia mioclonica progressiva, tipo 5","synonyms":["EPM5","Epilessia progressiva con mioclonie, tipo 5","PME, tipo 5"],"definition":"È una malattia neurologica genetica rara, caratterizzata da atassia progressiva ad esordio precoce, associata a crisi epilettiche miocloniche, crisi epilettiche generalizzate tonico-cloniche (spesso correlate al sonno) e intelligenza normale o disabilità intellettiva lieve. Possono associarsi la disartria, la paralisi dello sguardo verso l'alto, la neuropatia sensoriale, il ritardo dello sviluppo e i disturbi dello spettro autistico."},"nl":{"name":"Progressieve myoclonische epilepsie type 5","synonyms":["EPM5","PME type 5","Progressieve myoclonusepilepsie type 5"],"definition":"Een zeldzame, genetische, neurologische stoornis die gekarakteriseerd wordt door vroeg aanvangende, progressieve ataxie, geassocieerd met myoclonische insulten, gegeneraliseerde tonisch-clonische insulten (vaak gerelateerd aan slaap), en normale tot mild beperkte intelligentie. Dysartrie, opwaartse blikparese, sensorische neuropathie, ontwikkelingsachterstand en autistische stoornis werden ook reeds geassocieerd."},"pt":{"name":"Epilepsia mioclónica progressiva, tipo 5"},"pl":{"name":"Postępująca padaczka miokloniczna typu 5","synonyms":["EPM5","PME typu 5"]},"cs":{"name":"Progresivní myoklonická epilepsie, typ 5","synonyms":["EPM5","PME typ 5"]},"uk":{"name":"Прогресуюча міоклонічна епілепсія, тип 5","synonyms":["EPM5","PME тип 5","Прогресуюча міоклонусна епілепсія типу 5"],"definition":"A rare, genetic neurological disorder characterized by early-onset progressive ataxia associated with myoclonic seizures, generalized tonic-clonic seizures (which are often sleep-related), and normal to mild intellectual disability. Dysarthria, upward gaze palsy, sensory neuropathy, developmental delay and autistic disorder have also been associated."},"zh":{"name":"进行性肌阵挛性癫痫5型","synonyms":["进行性肌阵挛性癫痫5型"],"definition":"罕见的遗传性神经系统疾病，主要表现为早期起病的进展性共济失调合并肌阵挛性癫痫发作、全身性强直阵挛性癫痫发作（通常与睡眠有关）以及正常至轻度智力障碍。构音障碍，上视轻瘫，感觉神经病，发育迟缓和自闭症也已相关。"},"tr":{"name":"ilerleyici miyoklonik epilepsi tip 5","synonyms":["EPM5","PME tip 5","İlerleyici miyoklonus epilepsi tip 5"]}},"xrefs":[{"source":"OMIM","code":"607459","qualifier":"NTBT","icd_relation":null,"validated":true},{"source":"ICD-10","code":"G40.3","qualifier":"NTBT","icd_relation":"attributed","validated":true},{"source":"UMLS","code":"C5190799","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":"POLG","name":"DNA polymerase gamma, catalytic subunit","gene_type":"gene with protein product","association":"Candidate gene tested in","status":"Assessed","source":"26942291[PMID]","hgnc":"9179","ensembl":"ENSG00000140521","omim":"174763","loci":["15q26.1"]},{"symbol":"PRICKLE2","name":"prickle planar cell polarity protein 2","gene_type":"gene with protein product","association":"Candidate gene tested in","status":"Not yet assessed","source":"21276947[PMID]_26942291[PMID]","hgnc":"20340","ensembl":"ENSG00000163637","omim":"608501","loci":["3p14.1"]}],"genes_via_subtypes":[],"inheritance":["Autosomal dominant"],"onset":["Adolescent"],"prevalence":[{"type":"Cases/families","qualification":"Case(s)","class":null,"value":3.0,"area":"Worldwide","status":"Validated","source":"21276947[PMID]"},{"type":"Point prevalence","qualification":"Class only","class":"<1 / 1 000 000","value":0.0,"area":"Worldwide","status":"Validated","source":"ORPHANET_21276947[PMID]"}],"phenotypes":null}