{"orpha":457265,"name":"Progressive myoclonic epilepsy type 9","type":"Disease","group":"Disorder","status":"active","flags":[],"synonyms":["PME type 9","Progressive myoclonic epilepsy due to LMNB2 deficiency","Progressive myoclonus epilepsy type 9","EPM9"],"definition":"A rare, genetic, neurological disorder characterized by childhood-onset severe myoclonic and tonic-clonic seizures and early-onset ataxia leading to severe gait disturbances associated with normal to slightly diminished cognition. Scoliosis, diffuse muscle atrophy and subcutaneous fat loss, as well as developmental delay, may be associated. Brain MRI may reveal complete agenesis of the corpus callosum, ventriculomegaly, interhemispheric cysts, and simplified gyration (frontally).","note":null,"url":"https://raremap.alftech.space/d/ORPHA-457265/","orphanet_url":"https://www.orpha.net/en/disease/detail/457265","names":{"fr":{"name":"Epilepsie myoclonique progressive type 9","synonyms":["EMP type 9","EPM9","Epilepsie myoclonique progressive par déficit en LMNB2","PME type 9"],"definition":"Maladie neurologique génétique rare caractérisée par des crises myocloniques et tonicocloniques sévères apparaissant pendant l'enfance et une ataxie précoce entraînant de graves troubles de la marche associés à une cognition normale ou un léger déclin cognitif. Une scoliose, une atrophie musculaire diffuse et une perte de graisse sous-cutanée, ainsi qu'un retard de développement peuvent être associés. L'IRM cérébrale peut révéler une agénésie complète du corps calleux, une ventriculomégalie, des kystes interhémisphériques et une gyration simplifiée (frontale)."},"de":{"name":"Myoklonusepilepsie, progressive, Typ 9","synonyms":["EPM9","Myoklonusepilepsie, progressive, durch LMNB2-Mangel","PME Typ 9"]},"es":{"name":"Epilepsia mioclónica progresiva tipo 9","synonyms":["EMP tipo 9","EMP9","Epilepsia mioclónica progresiva por deficiencia de LMNB2","Epilepsia progresiva con mioclonías tipo 9"],"definition":"Es un trastorno neurológico, genético y poco frecuente, caracterizado por crisis mioclónicas y tónico-clónicas graves de inicio en la infancia y ataxia de inicio temprano que conduce a trastornos graves de la marcha asociado a una cognición normal o ligeramente disminuida. Este trastorno puede asociar escoliosis, atrofia muscular difusa y pérdida de grasa subcutánea, así como retraso del desarrollo. La RM cerebral puede revelar agenesia completa del cuerpo calloso, ventriculomegalia, quistes interhemisféricos y patrón giral simplificado en lobulos frontales."},"it":{"name":"Epilessia mioclonica progressiva tipo 9","definition":"È una malattia neurologica genetica rara, che esordisce nell'infanzia con crisi epilettiche miocloniche e tonico-cloniche gravi ed atassia precoce che comporta gravi anomalie della deambulazione; l'intelligenza è normale o ai limiti inferiori della norma. Possono associarsi scoliosi, atrofia muscolare generalizzata, perdita del grasso sottocutaneo e ritardo dello sviluppo. La RMN del cervello evidenzia agenesia completa del corpo calloso, ventricolomegalia, cisti interemisferiche e semplificazione delle circonvoluzioni (a livello frontale)."},"nl":{"name":"Progressieve myoclonische epilepsie type 9","synonyms":["EPM9","PME type 9","Progressieve myoclonische epilepsie door LMNB2-deficiëntie","Progressieve myoclonus epilepsie type 9"],"definition":"Een zeldzame, genetische, neurologische stoornis gekarakteriseerd door aanvang in de kindertijd van ernstige myoclonische en tonisch-clonische insulten en vroeg aanvangende ataxie die leidt tot ernstige gangstoornissen, geassocieerd met normale tot licht verminderde cognitie. Scoliose, diffuse spieratrofie en verlies van subcutaan vet, alsook ontwikkelingsachterstand, kunnen geassocieerd zijn. MRI van de hersenen toont mogelijk volledige agenesie van het corpus callosum, ventriculomegalie, interhemisferische cysten, en vereenvoudigde hersenwindingen (frontaal)."},"pt":{"name":"Epilepsia mioclónica progressiva, tipo 9"},"pl":{"name":"Postępująca padaczka miokloniczna typu 9","synonyms":["EPM9","PME typu 9","Postępująca padaczka miokloniczna spowodowana niedoborem LMNB2"]},"cs":{"name":"Progresivní myoklonická epilepsie, typ 9","synonyms":["EPM9","PME typ 9","Progresivní myoklonická epilepsie způsobená deficiencí LMNB2"]},"uk":{"name":"Прогресуюча міоклонічна епілепсія, тип 9","synonyms":["EPM9","PME тип 9","Прогресуюча міоклонічна епілепсія внаслідок дефіциту LMNB2","Прогресуюча міоклонусна епілепсія типу 9"],"definition":"A rare, genetic, neurological disorder characterized by childhood-onset severe myoclonic and tonic-clonic seizures and early-onset ataxia leading to severe gait disturbances associated with normal to slightly diminished cognition. Scoliosis, diffuse muscle atrophy and subcutaneous fat loss, as well as developmental delay, may be associated. Brain MRI may reveal complete agenesis of the corpus callosum, ventriculomegaly, interhemispheric cysts, and simplified gyration (frontally)."},"zh":{"name":"进行性肌阵挛性癫痫9型","synonyms":["LMNB2缺陷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，其特点是儿童期严重的肌阵挛和强直-阵挛发作和早期共济失调，导致严重的步态障碍，认知能力正常或略有下降。脊柱侧弯、弥漫性肌肉萎缩和皮下脂肪减少以及发育迟缓可能与此有关。脑MRI可显示胼胝体完全缺如、静脉扩张、半球间囊肿和简单脑回（额叶）。"},"tr":{"name":"İlerleyici miyoklonik epilepsi tip 9","synonyms":["EPM9","PME tip 9","İlerleyici miyoklonus epilepsi tip 9","LMNB2 eksikliğine bağlı İlerleyici miyoklonik epilepsi"]}},"xrefs":[{"source":"OMIM","code":"616540","qualifier":"E","icd_relation":null,"validated":true},{"source":"ICD-10","code":"G40.3","qualifier":"NTBT","icd_relation":"attributed","validated":true},{"source":"MONDO","code":"0014685","qualifier":"E","icd_relation":null,"validated":true},{"source":"UMLS","code":"C4225289","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":"LMNB2","name":"lamin B2","gene_type":"gene with protein product","association":"Disease-causing germline mutation(s) in","status":"Assessed","source":"25954030[PMID]","hgnc":"6638","ensembl":"ENSG00000176619","omim":"150341","loci":["19p13.3"]}],"genes_via_subtypes":[],"inheritance":["Autosomal recessive"],"onset":["Childhood"],"prevalence":[{"type":"Cases/families","qualification":"Case(s)","class":null,"value":2.0,"area":"Worldwide","status":"Validated","source":"25954030[PMID]"},{"type":"Point prevalence","qualification":"Class only","class":"<1 / 1 000 000","value":0.0,"area":"Worldwide","status":"Validated","source":"ORPHANET_25954030[PMID]"}],"phenotypes":null}