{"orpha":163721,"name":"Rolandic epilepsy-speech dyspraxia syndrome","type":"Disease","group":"Disorder","status":"active","flags":[],"synonyms":[],"definition":"Rolandic epilepsy-speech dyspraxia syndrome is a rare, genetic epilepsy characterized by speech disorder (including a range of symptoms from dysarthria, speech dyspraxia, receptive and expressive language delay/regression and acquired aphasia to subtle impairments of conversational speech) and epilepsy (mostly focal and secondary generalized childhood-onset seizures, sometimes with aura). Mild to severe intellectual disability may also be observed.","note":null,"url":"https://raremap.alftech.space/d/ORPHA-163721/","orphanet_url":"https://www.orpha.net/en/disease/detail/163721","names":{"fr":{"name":"Syndrome d'épilepsie rolandique-dyspraxie de la parole","definition":"Une épilepsie génétique rare caractérisée par un trouble de la parole (incluant un ensemble de symptômes allant d'une dysarthrie, une dyspraxie verbale, un retard/régression du langage expressif et réceptif, et une aphasie acquise, à des troubles subtiles du langage conversationnel) et une épilepsie (surtout des crises focales et des crises secondaires généralisées, d'apparition infantile, avec parfois une aura). Un déficit intellectuel léger à sévère peut aussi s'observer."},"de":{"name":"Rolando-Epilepsie-Sprachdyspraxie-Syndrom","definition":"Eine seltene, genetisch bedingte Epilepsie, die durch eine Sprachstörung (einschließlich einer Reihe von Symptomen in Form von Dysarthrie, Sprachdyspraxie, rezeptiver und expressiver Sprachverzögerung/-regression und erworbener Aphasie bis hin zu subtilen Beeinträchtigungen der Konversationssprache) und Epilepsie (meist fokale und sekundär generalisierte Anfälle im Kindesalter, manchmal mit Aura) gekennzeichnet ist. Leichte bis schwere Intelligenzminderungen können ebenfalls beobachtet werden."},"es":{"name":"Síndrome de epilepsia rolándica-dispraxia del habla","definition":"El síndrome de epilepsia rolándica con dispraxia del habla es una epilepsia genética poco frecuente caracterizada por un trastorno del habla (que incluye una variedad de síntomas que comprenden desde disartria, dispraxia del habla, retraso/regresión del lenguaje receptivo-expresivo y afasia adquirida, hasta deficiencias sutiles del habla conversacional) y epilepsia (principalmente crisis focales y secundariamente generalizadas de inicio en la infancia, en ocasiones con aura). También se puede observar discapacidad intelectual de leve a grave."},"it":{"name":"Sindrome da epilessia rolandica - disprassia verbale","definition":"La sindrome da epilessia rolandica - disprassia verbale è un'epilessia rara di origine genetica, caratterizzata da disturbi del linguaggio (che comprendono quadri variabili di disartria, disprassia verbale, ritardo/regressione del linguaggio recettivo ed espressivo, afasia acquisita, lieve compromissione della conversazione), associati ad epilessia (soprattutto crisi focali e secondariamente generalizzate ad esordio infantile, occasionalmente con aura). Può essere presente disabilità intellettiva lieve-grave."},"nl":{"name":"Rolandische epilepsie - spraakdyspraxie-syndroom","definition":"Rolandische epilepsie - spraakdyspraxie-syndroom is een zeldzame, genetische epilepsie die gekarakteriseerd wordt door spraakstoornis (inclusief een waaier van symptomen gaande van dysartrie, spraakdyspraxie, receptieve en expressieve taalachterstand/-regressie en verworven afasie tot subtiele aantasting van de conversationele spraak) en epilepsie (meestal focale en secondaire gegeneraliseerde insulten met aanvang in de kindertijd, soms met aura). Milde tot ernstige intellectuele achterstand kan ook waargenomen worden."},"pt":{"name":"Síndrome de epilepsia rolândica-dispraxia do discurso"},"pl":{"name":"Padaczka rolandyczna - dyspraksja mowy"},"cs":{"name":"Syndrom zahrnující rolandickou epilepsii a verbální dyspraxii"},"uk":{"name":"Синдром роландичної епілепсії та мовленнєвої диспраксії","definition":"Rolandic epilepsy-speech dyspraxia syndrome is a rare, genetic epilepsy characterized by speech disorder (including a range of symptoms from dysarthria, speech dyspraxia, receptive and expressive language delay/regression and acquired aphasia to subtle impairments of conversational speech) and epilepsy (mostly focal and secondary generalized childhood-onset seizures, sometimes with aura). Mild to severe intellectual disability may also be observed."},"zh":{"name":"罗兰迪克性癫痫-言语障碍综合征","definition":"运动性癫痫-言语障碍综合征是一种罕见的遗传性癫痫，其特征是语言障碍(包括一系列症状，构音障碍、言语运用障碍、接受性和表达性语言延迟/退化、获得性失语症、轻度会话性言语障碍)和癫痫(主要为局灶性和继发性全身性儿童起病的惊厥，有时伴先兆表现)。也可观察到轻至重度的智力障碍。"},"tr":{"name":"Rolandik epilepsi-konuşma dispraksi sendromu"}},"xrefs":[{"source":"OMIM","code":"245570","qualifier":"NTBT","icd_relation":null,"validated":true},{"source":"OMIM","code":"300643","qualifier":"BTNT","icd_relation":null,"validated":true},{"source":"ICD-10","code":"G40.8","qualifier":"NTBT","icd_relation":"attributed","validated":true},{"source":"ICD-11","code":"8A61.2Y","qualifier":"NTBT","icd_relation":"index","validated":true,"icd11_uri":"288052868"},{"source":"MONDO","code":"0015587","qualifier":"E","icd_relation":null,"validated":true},{"source":"UMLS","code":"C4707308","qualifier":"E","icd_relation":null,"validated":true}],"associations":[],"incoming_associations":[],"preferential_parent":{"orpha":93890,"name":"Rare developmental defect during embryogenesis"},"parents":[{"orpha":98259,"name":"Childhood-onset epilepsy syndrome","classifications":[156,181]},{"orpha":611314,"name":"Rare syndromic intellectual disability without multiple congenital anomalies/dysmorphic syndrome","classifications":[156,181]}],"children":[],"genes":[{"symbol":"GRIN2A","name":"glutamate ionotropic receptor NMDA type subunit 2A","gene_type":"gene with protein product","association":"Disease-causing germline mutation(s) in","status":"Assessed","source":"23933818[PMID]","hgnc":"4585","ensembl":"ENSG00000183454","omim":"138253","loci":["16p13.2"]},{"symbol":"SRPX2","name":"sushi repeat containing protein X-linked 2","gene_type":"gene with protein product","association":"Disease-causing germline mutation(s) in","status":"Assessed","source":"16497722[PMID]","hgnc":"30668","ensembl":"ENSG00000102359","omim":"300642","loci":["Xq22.1"]}],"genes_via_subtypes":[],"inheritance":["Autosomal dominant","X-linked dominant"],"onset":["Antenatal","Infancy","Neonatal"],"prevalence":[{"type":"Cases/families","qualification":"Case(s)","class":null,"value":277.0,"area":"Worldwide","status":"Validated","source":"16497722[PMID]_23933820[PMID]_24995671[PMID]_18248446[PMID]"},{"type":"Point prevalence","qualification":"Class only","class":"Unknown","value":0.0,"area":"Worldwide","status":"Validated","source":"ORPHANET"}],"phenotypes":{"validation_status":"y","online":"y","validation_date":"2019-08-12","source":"7574460[PMID]_18248446[PMID]_27683935[PMID]_16497722[PMID]","terms":[{"hpo":"HP:0000750","label":"Delayed speech and language development","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0001250","label":"Seizure","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0011098","label":"Speech apraxia","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0007334","label":"Bilateral tonic-clonic seizure with focal onset","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0031491","label":"Continuous spike and waves during slow sleep","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0002307","label":"Drooling","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0011196","label":"EEG with focal sharp waves","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0011198","label":"EEG with generalized epileptiform discharges","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0007359","label":"Focal-onset seizure","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0001249","label":"Intellectual disability","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0031434","label":"Abnormal speech prosody","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0010300","label":"Abnormally low-pitched voice","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0001260","label":"Dysarthria","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0001611","label":"Hypernasal speech","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0002079","label":"Hypoplasia of the corpus callosum","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0002546","label":"Incomprehensible speech","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000736","label":"Short attention span","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0001328","label":"Specific learning disability","frequency":"Occasional (29-5%)","criteria":null}]}}