{"orpha":435845,"name":"Lethal neonatal spasticity-epileptic encephalopathy syndrome","type":"Malformation syndrome","group":"Disorder","status":"active","flags":[],"synonyms":["Lethal neonatal rigidity-multifocal seizure syndrome"],"definition":"A rare genetic neurological disorder characterized by neonatal onset of rigidity and intractable seizures, with episodic jerking already beginning <i>in utero</i>. Affected infants have small heads, remain visually inattentive, do not feed independently, and make no developmental progress. Frequent spontaneous apnea and bradycardia usually culminate in cardiopulmonary arrest and death in infancy, although some cases were described with a milder clinical course and survival into childhood.","note":null,"url":"https://raremap.alftech.space/d/ORPHA-435845/","orphanet_url":"https://www.orpha.net/en/disease/detail/435845","names":{"fr":{"name":"Syndrome néonatal létal de spasticité-encéphalopathie épileptique","synonyms":["Syndrome néonatal létal de rigidité-convulsions multifocales"],"definition":"Maladie neurologique génétique rare caractérisée par l'apparition néonatale d'une rigidité et des épilepsies résistantes aux traitements et des épisodes de secousses apparaissant <i>in utero</i>. Les nourrissons atteints présentent une microcéphalie, une absence de réponse aux stimuli visuels, des difficultés à s'alimenter et des troubles du développement. Les fréquentes apnées et bradycardies spontanées aboutissent généralement à un arrêt cardio-pulmonaire et au décès dans la petite enfance. Dans certains cas décrits, on peut cependant observer une évolution clinique moins sévère et une survie dans l'enfance."},"de":{"name":"Letale neonatale Spastik-epileptische Enzephalopathie-Syndrom","synonyms":["Letale neonatale Rigidität-multifokale Krämpfe-Syndrom"],"definition":"Eine genetisch bedingte seltene neurologische Störung, die sich durch einen neonatalen Beginn von Steifheit und hartnäckigen Anfällen auszeichnet, wobei die episodischen Zuckungen bereits <i>in utero</i> beginnen. Die betroffenen Säuglinge haben kleine Köpfe, sind visuell unaufmerksam, ernähren sich nicht selbstständig und machen keine Entwicklungsfortschritte. Häufige Spontanapnoe und Bradykardie führen in der Regel zum Herz-Lungen-Stillstand und Tod im Säuglingsalter, obwohl auch Fälle mit einem milderen klinischen Verlauf und Überleben bis ins Kindesalter beschrieben wurden."},"es":{"name":"Síndrome de espasticidad neonatal letal-encefalopatía epiléptica","synonyms":["Síndrome de rigidez neonatal letal-crisis multifocales"],"definition":"Es un trastorno neurológico de origen genético poco frecuente caracterizado por rigidez y crisis epilépticas intratables de inicio neonatal, acompañadas de sacudidas episódicas que debutan <i>in utero</i>. Los lactantes afectados presentan una cabeza pequeña, déficit de atención visual, no se alimentan de forma independiente y no hay un progreso en el desarrollo. Las frecuentes apneas espontáneas y la bradicardia suelen resultar en una parada cardiorrespiratoria y en el fallecimiento en la lactancia, aunque se han descrito algunos casos con un curso clínico más leve con supervivencia hasta la infancia."},"it":{"name":"Sindrome spasticità neonatale letale-encefalopatia epilettica","synonyms":["Sindrome rigidità neonatale letale-convulsioni multifocali"],"definition":"Si tratta di una malattia neurologica rara, di origine genetica, caratterizzata da rigidità e crisi epilettiche non trattabili ad esordio neonatale, associate a scosse episodiche che si manifestano già nell'utero. I neonati presentano microcefalia, assenza di risposta agli stimoli visivi e ritardo dello sviluppo, e non si alimentano in maniera indipendente. Le frequenti apnee spontanee e la bradicardia di solito esitano nell'arresto cardiopolmonare e nella morte nella prima infanzia. Tuttavia, sono stati descritti alcuni pazienti affetti da una forma più lieve, che sono sopravvissuti fino all'infanzia."},"nl":{"name":"Letale neonatale spasticiteit - epileptische encefalopathie-syndroom","synonyms":["Letale neonatale rigiditeit - multifocale insulten-syndroom"],"definition":"Een zeldzame, genetische neurologische aandoening, gekarakteriseerd door neonatale aanvang van rigiditeit en refractaire insulten, met episodische spastische schokbewegingen die al <i>in utero</i> beginnen. Getroffen zuigelingen hebben een klein hoofd, blijven visueel onoplettend, eten niet zelfstandig, en maken geen progressie op vlak van ontwikkeling. Frequente spontane apneu en bradycardie culmineren meestal in cardiopulmonale stilstand en sterfte in de zuigelingentijd, hoewel sommige gevallen werden beschreven met een milder klinisch verloop en overleving tot in de kindertijd."},"pt":{"name":"Espasticidade neonatal grave com encefalopatia epilética"},"pl":{"name":"Zespół śmiertelnej spastyczności noworodków i encefalopatii padaczkowej","synonyms":["Zespół śmiertelnej spastyczności noworodków i wieloogniskowych ataków padaczkowych"]},"cs":{"name":"Syndrom zahrnující letální neonatální spasticitu a epileptickou encefalopatii","synonyms":["Syndrom zahrnující letální neonatální rigiditu a multifokální záchvaty"]},"uk":{"name":"Летальний синдром неонатальної спастичності-епілептичної енцефалопатії","synonyms":["Летальний неонатальний ригідно-мультифокальний судомний синдром"],"definition":"A rare genetic neurological disorder characterized by neonatal onset of rigidity and intractable seizures, with episodic jerking already beginning <i>in utero</i>. Affected infants have small heads, remain visually inattentive, do not feed independently, and make no developmental progress. Frequent spontaneous apnea and bradycardia usually culminate in cardiopulmonary arrest and death in infancy, although some cases were described with a milder clinical course and survival into childhood."},"zh":{"name":"致命性新生儿痉挛-癫痫性脑病综合征","synonyms":["致命性僵直-多灶性癫痫综合征"],"definition":"一种罕见的遗传神经系统疾病，其特征是新生儿期起病的僵硬和顽固性癫痫发作，子宫内即已出现抽搐发作。患病的婴儿头部较小，视觉上注意力不集中，不能自主进食，也没有发育进展。频繁的自发性呼吸暂停和心动过缓通常可导致在婴儿期出现心肺骤停和死亡。尽管有些病例临床过程较轻并能存活至儿童期。"},"tr":{"name":"Ölümcül Yenidoğan spastisite-epileptik ensefalopati sendromu","synonyms":["Letal yenidoğan sertlik-multifokal nöbet sendromu"]}},"xrefs":[{"source":"OMIM","code":"614498","qualifier":"E","icd_relation":null,"validated":true},{"source":"OMIM","code":"618056","qualifier":"NTBT","icd_relation":null,"validated":true},{"source":"ICD-10","code":"G40.4","qualifier":"NTBT","icd_relation":"attributed","validated":true},{"source":"MONDO","code":"0013784","qualifier":"E","icd_relation":null,"validated":true},{"source":"MONDO","code":"13784","qualifier":"E","icd_relation":null,"validated":true},{"source":"UMLS","code":"C3281029","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":"BRAT1","name":"BRCA1 associated ATM activator 1","gene_type":"gene with protein product","association":"Disease-causing germline mutation(s) in","status":"Assessed","source":"25500575[PMID]","hgnc":"21701","ensembl":"ENSG00000106009","omim":"614506","loci":["7p22.3"]}],"genes_via_subtypes":[],"inheritance":["Autosomal recessive"],"onset":["Neonatal"],"prevalence":[{"type":"Cases/families","qualification":"Case(s)","class":null,"value":8.0,"area":"Worldwide","status":"Validated","source":"25500575[PMID]"},{"type":"Point prevalence","qualification":"Class only","class":"<1 / 1 000 000","value":0.0,"area":"Worldwide","status":"Validated","source":"ORPHANET_25500575[PMID]"}],"phenotypes":null}