{"orpha":352596,"name":"Progressive myoclonic epilepsy with dystonia","type":"Disease","group":"Disorder","status":"active","flags":[],"synonyms":["PMED","Progressive myoclonus epilepsy with dystonia"],"definition":"Progressive myoclonic epilepsy with dystonia is a rare, genetic epilepsy syndrome characterized by neonatal or early infantile onset of severe, progressive, typically frequent and prolonged myoclonic seizures that are refractory to treatment, associated with localized and/or generalized paroxysmal dystonia (which later becomes persistent). Other features include severe hypotonia, hemiplegia, psychomotor regression (or lack of psychomotor development) and progressive cerebral and cerebellar atrophy, with affected individuals becoming progressively non-reactive to environmental stimuli.","note":null,"url":"https://raremap.alftech.space/d/ORPHA-352596/","orphanet_url":"https://www.orpha.net/en/disease/detail/352596","names":{"fr":{"name":"Epilepsie myoclonique progressive avec dystonie","synonyms":["PMED"],"definition":"Un syndrome génétique épileptique rare caractérisé par la survenue néonatale ou tôt dans la petite enfance de convulsions myocloniques progressives et sévères, habituellement fréquentes et prolongées, réfractaires au traitement. Elles sont associées à une dystonie paroxysmique localisée et/ou généralisée (qui devient persistante avec le temps). Les autres manifestations incluent une hypotonie sévère, une hémiplégie, une régression psychomotrice (ou l'absence de développement psychomoteur), et une atrophie progressive cérébrale et cérébelleuse. Les individus affectés deviennent progressivement non réactifs aux stimuli environnementaux."},"de":{"name":"Myoklonusepilepsie, progressive, mit Dystonie","synonyms":["PMED"],"definition":"Die progressive myoklonische Epilepsie mit Dystonie ist ein seltenes, genetisch bedingtes Epilepsiesyndrom, das durch den neonatalen oder frühkindlichen Beginn von schweren, progressiven, typischerweise häufigen und anhaltenden myoklonischen Anfällen gekennzeichnet ist, die therapierefraktär sind und mit einer lokalisierten und/oder generalisierten paroxysmalen Dystonie (die später persistierend wird) einhergehen. Weitere Merkmale sind schwere Hypotonie, Hemiplegie, psychomotorische Regression (oder fehlende psychomotorische Entwicklung) und fortschreitende zerebrale und zerebelläre Atrophie, wobei die betroffenen Personen zunehmend nicht mehr auf Umweltreize reagieren."},"es":{"name":"Epilepsia mioclónica progresiva con distonía","synonyms":["PMED"],"definition":"La epilepsia mioclónica progresiva con distonía es un síndrome genético poco frecuente de epilepsia, caracterizado por un inicio neonatal o en la infancia temprana de crisis mioclónicas severas, progresivas, particularmente frecuentes y prolongadas que son refractarias al tratamiento, asociadas con distonía paroxística focal y/o generalizada (que más tarde se vuelve persistente). Otras características incluyen hipotonía grave, hemiplejía, regresión psicomotora (o retraso del desarrollo psicomotor) y atrofia progresiva cerebral y cerebelosa, dejando de responder a estímulos ambientales con la progresión."},"it":{"name":"Epilessia mioclonica progressiva con distonia","synonyms":["PMED"],"definition":"L'epilessia mioclonica progressiva con distonia è una malattia epilettica rara, di origine genetica, ad esordio nel periodo neonatale o nella prima infanzia, con crisi epilettiche miocloniche gravi, progressive, di solito frequenti e prolungate, refrattarie al trattamento, associate a distonia parossistica localizzata e/o generalizzata (che successivamente diventa persistente). Altri segni clinici sono l'ipotonia grave, l'emiplegia, la regressione psicomotoria (o il mancato sviluppo psicomotorio) e l'atrofia cerebrale e cerebellare progressiva. Con il tempo i pazienti non reagiscono più agli stimoli ambientali."},"nl":{"name":"Progressieve myoclonische epilepsie met dystonie","synonyms":["PMED","Progressieve myoclonusepilepsie met dystonie"],"definition":"Progressieve myoclonische epilepsie met dystonie is een zeldzaam, genetisch epilepsiesyndroom dat gekarakteriseerd wordt door neonatale of vroeg infantiele aanvang van ernstige, progressieve, typisch frequente en langdurige myoclonische insulten die refractair zijn voor behandeling, geassocieerd met lokale en/of gegeneraliseerde paroxysmale dystonie (die later aanhoudend wordt). Andere kenmerken zijn onder meer ernstige hypotonie, hemiplegie, psychomotorische regressie (of gebrek aan psychomotorische ontwikkeling) en progressieve cerebrale en cerebellaire atrofie, waarbij getroffen individuen progressief niet-responsief worden op stimuli uit de omgeving."},"pt":{"name":"Epilepsia mioclónica progressiva com distonia"},"pl":{"name":"Postępująca padaczka miokloniczna z dystonią","synonyms":["PMED"]},"cs":{"name":"Progresivní myoklonická epilepsie s dystonií","synonyms":["PMED"]},"uk":{"name":"Прогресуюча міоклонічна епілепсія з дистонією","synonyms":["PMED","Прогресуюча міоклонусна епілепсія з дистонією"],"definition":"Progressive myoclonic epilepsy with dystonia is a rare, genetic epilepsy syndrome characterized by neonatal or early infantile onset of severe, progressive, typically frequent and prolonged myoclonic seizures that are refractory to treatment, associated with localized and/or generalized paroxysmal dystonia (which later becomes persistent). Other features include severe hypotonia, hemiplegia, psychomotor regression (or lack of psychomotor development) and progressive cerebral and cerebellar atrophy, with affected individuals becoming progressively non-reactive to environmental stimuli."},"zh":{"name":"进行性肌阵挛性癫痫伴肌张力障碍","synonyms":["进行性肌阵挛癫痫伴肌张力障碍"],"definition":"进行性肌阵挛癫痫伴肌张力障碍是一种罕见的遗传性癫痫综合征，其特征是新生儿或婴儿早期发作严重的、进行性的肌阵挛发作，通常为频繁和长期发作，且难以治疗，并伴有局限性和/或全身性阵发性肌张力障碍(后可变为持续性)。本病的其他特征包括严重的肌张力低下、偏瘫、精神运动退化(或缺乏精神运动发育)和进行性大脑及小脑萎缩，受影响的患者会对环境刺激逐渐失去反应。"},"tr":{"name":"Distoni ile seyreden ilerleyici miyoklonik epilepsi","synonyms":["PMED","Distoni ile seyreden ilerleyici miyoklonus epilepsisi"]}},"xrefs":[{"source":"OMIM","code":"615338","qualifier":"NTBT","icd_relation":null,"validated":true},{"source":"ICD-10","code":"G40.3","qualifier":"NTBT","icd_relation":"attributed","validated":true},{"source":"MONDO","code":"0018126","qualifier":"E","icd_relation":null,"validated":true},{"source":"UMLS","code":"C4706413","qualifier":"E","icd_relation":null,"validated":true}],"associations":[],"incoming_associations":[],"preferential_parent":{"orpha":98006,"name":"Rare neurologic disease"},"parents":[{"orpha":166472,"name":"Monogenic disease with epilepsy","classifications":[156,181]}],"children":[],"genes":[{"symbol":"TBC1D24","name":"TBC1 domain family member 24","gene_type":"gene with protein product","association":"Disease-causing germline mutation(s) (loss of function) in","status":"Assessed","source":"21087195[PMID]_23343562[PMID]","hgnc":"29203","ensembl":"ENSG00000162065","omim":"613577","loci":["16p13.3"]}],"genes_via_subtypes":[],"inheritance":["Autosomal recessive"],"onset":["Infancy","Neonatal"],"prevalence":[{"type":"Cases/families","qualification":"Case(s)","class":null,"value":5.0,"area":"Worldwide","status":"Validated","source":"21087195[PMID]"},{"type":"Point prevalence","qualification":"Class only","class":"<1 / 1 000 000","value":0.0,"area":"Worldwide","status":"Validated","source":"ORPHANET"}],"phenotypes":{"validation_status":"y","online":"y","validation_date":"2018-10-29","source":"21087195[PMID]_23526554[PMID]","terms":[{"hpo":"HP:0007256","label":"Abnormal pyramidal sign","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0001332","label":"Dystonia","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0001336","label":"Myoclonus","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0002788","label":"Recurrent upper respiratory tract infections","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0002188","label":"Delayed CNS myelination","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0002376","label":"Developmental regression","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0001326","label":"EEG with irregular generalized spike and wave complexes","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0200134","label":"Epileptic encephalopathy","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0011968","label":"Feeding difficulties","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0002123","label":"Generalized myoclonic seizure","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0008935","label":"Generalized neonatal hypotonia","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000252","label":"Microcephaly","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0002133","label":"Status epilepticus","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0002071","label":"Abnormality of extrapyramidal motor function","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0100275","label":"Diffuse cerebellar atrophy","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0002506","label":"Diffuse cerebral atrophy","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0001262","label":"Excessive daytime somnolence","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0001263","label":"Global developmental delay","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0001269","label":"Hemiparesis","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0002301","label":"Hemiplegia","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0025152","label":"Poor visual behavior for age","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000648","label":"Optic atrophy","frequency":"Very rare (<4-1%)","criteria":null}]}}