{"orpha":263516,"name":"Progressive myoclonic epilepsy type 3","type":"Disease","group":"Disorder","status":"active","flags":[],"synonyms":["EPM3","PME type 3","Progressive myoclonic epilepsy due to KCTD7 deficiency","Progressive myoclonus epilepsy type 3"],"definition":"A rare epilepsy syndrome characterized by infantile- to early childhood-onset of progressive myoclonic seizures (occasionally accompanied by generalized tonic-clonic seizures) and severe, progressive neurological regression, leading to psychomotor and cognitive decline, cerebellar ataxia, dementia and, frequently, early death. Vision loss may be associated. EEG typically reveals epileptiform activity with predominance in the posterior region and photosensitivity.","note":null,"url":"https://raremap.alftech.space/d/ORPHA-263516/","orphanet_url":"https://www.orpha.net/en/disease/detail/263516","names":{"fr":{"name":"Epilepsie myoclonique progressive type 3","synonyms":["EMP type 3","EPM3","Epilepsie myoclonique progressive par déficit en KCTD7","PME type 3"],"definition":"Syndrome épileptique rare caractérisé par l'apparition pendant la petite enfance ou au début de l'enfance de crises myocloniques progressives (parfois accompagnées de crises tonico-cloniques généralisées) et d'une régression neurologique sévère et progressive, conduisant à un déclin psychomoteur et cognitif, à une ataxie cérébelleuse, à une démence et, fréquemment, à un décès précoce. Une perte de vision peut être associée. L'EEG révèle typiquement une activité épileptiforme principalement dans la région postérieure et une photosensibilité."},"de":{"name":"Myoklonische Epilepsie, progressive, Typ 3","synonyms":["EPM3","Myoklonusepilepsie, progressive, Typ 3","Myoklonusepilepsie, progressive, durch KCTD7-Mangel","PME Typ 3"],"definition":"Ein seltenes Epilepsiesyndrom, bei dem im Säuglings- bis frühen Kindesalter progressive myoklonische Anfälle (gelegentlich begleitet von generalisierten tonisch-klonischen Anfällen) und eine schwere, fortschreitende neurologische Regression auftreten, die zu psychomotorischem und kognitivem Abbau, zerebellärer Ataxie, Demenz und häufig zu frühem Tod führt. Ein Sehverlust kann damit einhergehen. Das EEG zeigt typischerweise epileptiforme Aktivität mit Vorherrschaft in der hinteren Region sowie Lichtempfindlichkeit."},"es":{"name":"Epilepsia mioclónica progresiva tipo 3","synonyms":["EMP tipo 3","EPM3","Epilepsia mioclónica progresiva por deficiencia de KCTD7","Epilepsia progresiva con mioclonías tipo 3"],"definition":"Es un síndrome epiléptico poco frecuente caracterizado por crisis mioclónicas progresivas de inicio en la lactancia o en la primera infancia (ocasionalmente acompañadas de crisis tónico-clónicas generalizadas) y una regresión neurológica grave y progresiva, que conduce a deterioro psicomotor y cognitivo, ataxia cerebelosa, demencia y, con frecuencia, muerte prematura. Puede asociar pérdida de visión. El EEG suele revelar actividad epileptiforme con predominio en la región posterior y fotosensibilidad."},"it":{"name":"Epilessia mioclonica progressiva tipo 3","synonyms":["EPM3","Epilessia mioclonica progressiva da deficit di KCTD7","Epilessia progressiva da mioclono, tipo 3","PME, tipo 3"],"definition":"È una ceroidolipofuscinosi neuronale genetica rara, che esordisce in epoca neonatale o nella prima infanzia con crisi epilettiche miocloniche progressive (raramente associate a crisi tonico-cloniche generalizzate) e con regressione neurologica ingravescente, che esita nel deterioramento psicomotorio e cognitivo, nell'atassia cerebellare, nella demenza e, spesso, nella morte prematura. Può associarsi a perdita della vista. Di solito l'EEG evidenzia un'attività epilettiforme, soprattutto nella regione posteriore, e fotosensibilità."},"nl":{"name":"Progressieve myoclonische epilepsie type 3","synonyms":["EPM3","PME type 3","Progressieve myoclonische epilepsie door KCTD7-deficiëntie","Progressieve myoclonusepilepsie type 3"],"definition":"Een zeldzaam epilepsiesyndroom, gekenmerkt door in de zuigelingentijd tot vroege kindertijd optredende progressieve myoclonische insulten (occasioneel vergezeld van gegeneraliseerde tonisch-clonische insulten) en ernstige, progressieve neurologische regressie, die leidt tot psychomotorische en cognitieve achteruitgang, cerebellaire ataxie, dementie en vaak vroegtijdig overlijden. Functieverlies van het zicht kan geassocieerd zijn. EEG toont doorgaans epileptiforme activiteit, voornamelijk in de posterieure regio, en lichtgevoeligheid."},"pt":{"name":"Epilepsia mioclónica progressiva tipo 3","synonyms":["EPM3","Epilepsia de mioclonias progressiva tipo 3","PME tipo 3"]},"pl":{"name":"Postępująca padaczka miokloniczna typu 3","synonyms":["EPM3","PME typu 3","Postępująca padaczka miokloniczna z powodu niedoboru KCTD7"]},"cs":{"name":"Progresivní myoklonická epilepsie, typ 3","synonyms":["EPM3","PME typ 3","Progresivní myoklonická epilepsie způsobená deficitem KCTD7"]},"uk":{"name":"Прогресуюча міоклонічна епілепсія, тип 3","synonyms":["EPM3","PME тип 3","Прогресуюча міоклонічна епілепсія внаслідок дефіциту KCTD7","Прогресуюча міоклонусна епілепсія типу 3"],"definition":"A rare, genetic, neuronal ceroid lipofuscinosis disorder characterized by infantile- to early childhood-onset of progressive myoclonic seizures (occasionally accompanied by generalized tonic-clonic seizures) and severe, progressive neurological regression, leading to psychomotor and cognitive decline, cerebellar ataxia, dementia and, frequently, early death. Vision loss may be associated. EEG typically reveals epileptiform activity with predominance in the posterior region and photosensitivity."},"zh":{"name":"进行性肌阵挛癫痫3型","synonyms":["KCTD7基因缺陷所致进行性肌阵挛癫痫"],"definition":"一种罕见的遗传性神经性蜡样脂褐素沉积症，其特征是从婴儿期到幼年早期出现进行性肌阵挛发作(偶尔伴有全身性强直-阵挛发作)和严重的进行性神经退化，导致精神运动和认知能力下降、小脑性共济失调、痴呆，经常还会过早死亡。视力丧失可能与此相关。脑电图典型表现为癫痫样活动，后部占优势，对光敏感。"},"tr":{"name":"İlerleyici miyoklonik epilepsi tip 3","synonyms":["EPM3","PME tip 3","CLN14 hastalığı","İlerleyici miyoklonus epilepsisi tip 3","KCTD7 eksikliğine bağlı ilerleyici miyoklonik epilepsi"]}},"xrefs":[{"source":"OMIM","code":"611726","qualifier":"NTBT","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":"383417276"},{"source":"MONDO","code":"0012721","qualifier":"E","icd_relation":null,"validated":true},{"source":"MeSH","code":"C567095","qualifier":"E","icd_relation":null,"validated":true},{"source":"UMLS","code":"C2673257","qualifier":"E","icd_relation":null,"validated":true},{"source":"GARD","code":"2167","qualifier":"E","icd_relation":null,"validated":true}],"associations":[],"incoming_associations":[],"preferential_parent":{"orpha":98006,"name":"Rare neurologic disease"},"parents":[{"orpha":371047,"name":"Congenital disorder of glycosylation with neurological involvement","classifications":[156,181]},{"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":"KCTD7","name":"potassium channel tetramerization domain containing 7","gene_type":"gene with protein product","association":"Disease-causing germline mutation(s) in","status":"Assessed","source":"22693283[PMID]_22748208[PMID]","hgnc":"21957","ensembl":"ENSG00000243335","omim":"611725","loci":["7q11.21"]}],"genes_via_subtypes":[],"inheritance":["Autosomal recessive"],"onset":["Childhood","Infancy"],"prevalence":[{"type":"Cases/families","qualification":"Family(ies)","class":null,"value":9.0,"area":"Worldwide","status":"Validated","source":"22693283[PMID]_22748208[PMID]"},{"type":"Point prevalence","qualification":"Class only","class":"<1 / 1 000 000","value":0.0,"area":"Worldwide","status":"Validated","source":"ORPHANET_22693283[PMID]_22748208[PMID]"}],"phenotypes":{"validation_status":"y","online":"y","validation_date":"2019-02-11","source":"17455289[PMID]_22693283[PMID]_22748208[PMID]_27083890[PMID]","terms":[{"hpo":"HP:0002376","label":"Developmental regression","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0001260","label":"Dysarthria","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0011188","label":"Focal EEG discharges with secondary generalization","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0011166","label":"Focal myoclonic seizure","frequency":"Frequent (79-30%)","criteria":"Diagnostic criterion"},{"hpo":"HP:0001249","label":"Intellectual disability","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0001336","label":"Myoclonus","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0007272","label":"Progressive psychomotor deterioration","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0007221","label":"Progressive truncal ataxia","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000504","label":"Abnormality of vision","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0007370","label":"Aplasia/Hypoplasia of the corpus callosum","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0002069","label":"Bilateral tonic-clonic seizure","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0001272","label":"Cerebellar atrophy","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0002059","label":"Cerebral atrophy","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0012462","label":"Chin myoclonus","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000726","label":"Dementia","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0011185","label":"EEG with focal epileptiform discharges","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0002373","label":"Febrile seizure (within the age range of 3 months to 6 years)","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0045084","label":"Limb myoclonus","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000252","label":"Microcephaly","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000648","label":"Optic atrophy","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0001327","label":"Photomyoclonic seizures","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0002073","label":"Progressive cerebellar ataxia","frequency":"Occasional (29-5%)","criteria":null}]}}