{"orpha":364063,"name":"Infantile epileptic-dyskinetic encephalopathy","type":"Disease","group":"Disorder","status":"active","flags":[],"synonyms":[],"definition":"A rare monogenic disease with epilepsy characterized by developmental delay and infantile spasms in the first months of life, followed by chorea and generalized dystonia and progressing to quadriplegic dyskinesia, recurrent status dystonicus, intractable focal epilepsy and severe intellectual disability.","note":null,"url":"https://raremap.alftech.space/d/ORPHA-364063/","orphanet_url":"https://www.orpha.net/en/disease/detail/364063","names":{"fr":{"name":"Encéphalopathie épileptique-dyskinétique infantile","definition":"Maladie monogénique rare avec épilepsie caractérisée par un retard de développement et des spasmes infantiles dans les premiers mois de la vie, suivis d'une chorée et d'une dystonie généralisées et évoluant vers une dyskinésie quadriplégique, un état dystonique récurrent, une épilepsie focale réfractaire et une déficience intellectuelle sévère."},"de":{"name":"Enzephalopathie, epileptisch-dyskinetische infantile","definition":"Eine seltene monogene Erkrankung mit Epilepsie, die durch Entwicklungsverzögerung und infantile Krämpfe in den ersten Lebensmonaten gekennzeichnet ist, gefolgt von Chorea und generalisierter Dystonie und fortschreitender quadriplegischer Dyskinesie, rezidivierendem Status dystonicus, therapieresistenter fokaler Epilepsie und schwerer Intelligenzminderung."},"es":{"name":"Encefalopatía epiléptica-discinética infantil","definition":"Es una enfermedad monogénica con epilepsia poco frecuente caracterizada por retraso del desarrollo y espasmos infantiles en los primeros meses de vida, seguido de corea y distonia generalizada, que progresa a discinesia cuadripléjica, estatus distónico recurrente, epilepsia focal farmacorresistente y discapacidad intelectual grave."},"it":{"name":"Encefalopatia epilettica-discinetica infantile","definition":"L'encefalopatia epilettica con discinetica infantile è una malattia monogenica associata ad epilessia, caratterizzata da ritardo dello sviluppo e spasmi infantili che esordiscono nei primi mesi di vita, seguiti da corea e distonia generalizzata, che progrediscono verso la discinesia quadriplegica, lo stato distonico ricorrente, l'epilessia focale non trattabile e la disabilità intellettiva grave."},"nl":{"name":"Infantiele epileptische-dyskinetische encefalopathie","definition":"Een zeldzame monogene aandoening met epilepsie, gekenmerkt door ontwikkelingsachterstand en infantiele spasmen tijdens de eerste levensmaanden, gevolgd door chorea en gegeneraliseerde dystonie en verdere evolutie naar quadriplegische dyskinesie, recidiverende status dystonicus, hardnekkige focale epilepsie en ernstige intellectuele beperking."},"pt":{"name":"Epilepsia-discinésia-encefalopatia da infância","definition":"Doença monogénica rara com epilepsia, caracterizada por atraso do desenvolvimento e espasmos infantis nos primeiros meses de vida, seguidos por coreia e distonia generalizada, progredindo para discinesia quadriplégica, episódios recorrentes de estado distónico, epilepsia focal intratável e perturbação do desenvolvimento intelectual grave."},"pl":{"name":"Dziecięca encefalopatia epileptyczno-dyskinetyczna","definition":"Rzadka choroba jednogenowa przebiegająca z padaczką, charakteryzująca się opóźnieniem rozwoju i dziecięcymi skurczami w pierwszych miesiącach życia, po których następuje pląsawica i uogólniona dystonia, prowadząca do dyskinezy czterokończynowej, nawracającego stanu dystonicznego, trudnej do leczenia padaczki ogniskowej i ciężkiej niepełnosprawności intelektualnej."},"cs":{"name":"Kojenecká epilepticko-dyskinetická encefalopatie"},"uk":{"name":"Епілептично-дискінетична енцефалопатія раннього дитячого віку","definition":"A rare monogenic disease with epilepsy characterized by developmental delay and infantile spasms in the first months of life, followed by chorea and generalized dystonia and progressing to quadriplegic dyskinesia, recurrent status dystonicus, intractable focal epilepsy and severe intellectual disability."},"zh":{"name":"小儿癫痫性运动障碍性脑病","definition":"本病是一种单基因疾病伴有癫痫，其特征是发育迟缓和婴儿在出生后几个月内发生痉挛，随后出现舞蹈症和全身性肌张力障碍，并进展为四肢瘫痪运动障碍、反复出现的肌张力障碍、顽固性局灶性癫痫和严重的智力障碍。"},"tr":{"name":"İnfantil epileptik-diskinetik ensefalopati"}},"xrefs":[{"source":"OMIM","code":"308350","qualifier":"NTBT","icd_relation":null,"validated":true},{"source":"ICD-10","code":"G40.4","qualifier":"NTBT","icd_relation":"attributed","validated":true},{"source":"MONDO","code":"0018226","qualifier":"E","icd_relation":null,"validated":true},{"source":"MeSH","code":"C567924","qualifier":"E","icd_relation":null,"validated":true},{"source":"UMLS","code":"C4552072","qualifier":"E","icd_relation":null,"validated":true}],"associations":[],"incoming_associations":[],"preferential_parent":{"orpha":98006,"name":"Rare neurologic disease"},"parents":[{"orpha":182079,"name":"ARX-related epileptic encephalopathy","classifications":[156,181]},{"orpha":391711,"name":"Persistent combined dystonia","classifications":[156,181]}],"children":[],"genes":[{"symbol":"ARX","name":"aristaless related homeobox","gene_type":"gene with protein product","association":"Disease-causing germline mutation(s) (loss of function) in","status":"Assessed","source":"17664401[PMID]","hgnc":"18060","ensembl":"ENSG00000004848","omim":"300382","loci":["Xp21.3"]}],"genes_via_subtypes":[],"inheritance":["X-linked recessive"],"onset":["Infancy","Neonatal"],"prevalence":[],"phenotypes":null}