{"orpha":352587,"name":"Focal epilepsy-intellectual disability-cerebro-cerebellar malformation","type":"Disease","group":"Disorder","status":"active","flags":[],"synonyms":["Focal epilepsy-intellectual disability-dysarthria-ataxia syndrome"],"definition":"Focal epilepsy-intellectual disability-cerebro-cerebellar malformation is a rare, genetic neurological disorder characterized by early infantile-onset of seizures, borderline to moderate intellectual disability, cerebellar features including dysarthria and ataxia and cerebellar atrophy and cortical thickening observed on MRI imaging. Seizures are typically focal (with prominent eye blinking, facial and limb jerking), precipitated by fever and often commence with an oral sensory aura (anesthetized tongue sensation). When not properly controlled by anti-epileptic medication, weekly frequency and persistance into adult life is observed.","note":null,"url":"https://raremap.alftech.space/d/ORPHA-352587/","orphanet_url":"https://www.orpha.net/en/disease/detail/352587","names":{"fr":{"name":"Syndrome d'épilepsie focale-déficience intellectuelle-malformation cérebro-cérébelleuse","synonyms":["Syndrome d'épilepsie focale-déficience intellectuelle-dysarthrie-ataxie"],"definition":"Un trouble génétique neurologique rare, caractérisé par des convulsions apparaissant tôt dans la petite enfance, un déficit intellectuel limite à modéré, des signes cérébelleux incluant une dysarthrie et une ataxie, ainsi qu'une atrophie cérébelleuse et un épaississement cortical observés à l'imagerie par résonance magnétique (IRM). Les convulsions sont habituellement focales (avec un clignement oculaire proéminent, et des secousses affectant le visage et les membres), précipitées par de la fièvre, et débutent souvent par un aura sensitif buccal (sensation d'anesthésie de la langue). En cas de contrôle inefficace du syndrome par thérapie antiépileptique, sa fréquence est hebdomadaire et celui-ci persiste jusqu'à l'âge adulte."},"de":{"name":"Fokale Epilepsie-Intelligenzminderung-zerebro-zerebelläre Fehlbildung","synonyms":["Fokale Epilepsie-Intelligenzminderung-Dysarthrie-Ataxie-Syndrom"],"definition":"Die fokale Epilepsie mit Intelligenzminderung und zerebro-zerebellärer Fehlbildung ist eine seltene, genetisch bedingte neurologische Störung, die durch frühkindliche Anfälle, grenzwertige bis mäßige Intelligenzminderung, zerebelläre Merkmale einschließlich Dysarthrie und Ataxie sowie zerebelläre Atrophie und kortikale Verdickung in der MRT-Bildgebung gekennzeichnet ist. Die Anfälle sind typischerweise fokal (mit ausgeprägtem Augenblinzeln, Gesichts- und Gliederzuckungen), werden durch Fieber ausgelöst und beginnen oft mit einer oralen sensorischen Aura (betäubtes Zungengefühl). Wenn die Anfälle nicht richtig durch antiepileptische Medikamente kontrolliert werden, wird eine wöchentliche Häufigkeit und Persistenz bis ins Erwachsenenalter beobachtet."},"es":{"name":"Epilepsia focal-discapacidad intelectual-malformación cerebro-cerebelosa","synonyms":["Síndrome de epilepsia focal-discapacidad intelectual-disartria-ataxia"],"definition":"La epilepsia focal-discapacidad intelectual-malformación cerebro-cerebelosa es un trastorno neurológico genético poco frecuente, caracterizado por un inicio en la infancia temprana de crisis, discapacidad intelectual de leve a moderada y alteraciones cerebelosas que incluyen disartria y ataxia, con hallazgo en la resonancia de atrofia del cerebelo y engrosamiento cortical. Las crisis suelen ser focales (con parpadeo ocular prominente, espasmos faciales y de extremidades), precipitadas por fiebre y, a menudo, van precedidas de un aura sensitiva oral (sensación de lengua anestesiada). Si no se controla adecuadamente con fármacos antiepilépticos, presenta una frecuencia semanal de crisis y persistencia en la vida adulta."},"it":{"name":"Epilessia focale-disabilità intellettiva-malformazione cerebro-cerebellare","synonyms":["Sindrome epilessia focale-disabilità intellettiva-disartria-atassia"],"definition":"L'epilessia focale-disabilità intellettiva-malformazione cerebro-cerebellare è una malattia neurologica rara di origine genetica, che esordisce nella prima infanzia con crisi epilettiche, disabilità intellettiva sfumata-moderata, segni clinici cerebellari (disartria ed atassia), atrofia cerebellare e ispessimento corticale, evidenti alla RM. In genere le crisi epilettiche sono focali (con marcato sbattimento delle palpebre e spasmi del viso e degli arti), aggravati dalla febbre e spesso preceduti da un'aura sensoriale orale (sensazione di lingua addormentata). Se le crisi non vengono adeguatamente controllate con farmaci antiepilettici, tendono a ripetersi con cadenza settimanale, persistendo fino all'età adulta."},"nl":{"name":"Focale epilepsie - intellectuele achterstand - cerebrocerebellaire malformatie","synonyms":["Focale epilepsie - intellectuele achterstand - dysartrie - ataxie-syndroom"],"definition":"Focale epilepsie - intellectuele achterstand - cerebro-cerebellaire malformatie is een zeldzame, genetische neurologische stoornis die gekarakteriseerd wordt door aanvang in de vroege zuigelingentijd van insulten, marginale tot matige intellectuele achterstand, cerebellaire kenmerken waaronder dysartrie en ataxie, en cerebellaire atrofie en corticale verdikking waargenomen bij beeldvorming met MRI. Insulten zijn doorgaans focaal (met uitgesproken knipperen van de ogen, schokbewegingen van het gelaat en de ledematen), worden versneld door koorts, en beginnen vaak met een orale sensorische aura (verdoofd gevoel aan de tong). Zonder passende controle met anti-epileptica worden een wekelijkse frequentie en persistentie tot in de volwassenheid waargenomen."},"pt":{"name":"Epilepsia focal-perturbação do desenvolvimento intelectual-malformação cérebro-cerebelosa","synonyms":["Síndrome de epilepsia focal-perturbação do desenvolvimento intelectual-disartria-ataxia"]},"pl":{"name":"Padaczka ogniskowa - niepełnosprawność intelektualna - malformacje mózgowo-móżdżkowe","synonyms":["Padaczka ogniskowa - niepełnosprawność intelektualna - dyzartria - ataksja"]},"cs":{"name":"Fokální epilepsie, mentální retardace a cerebro-celebelární malformace","synonyms":["Syndrom zahrnující fokální epilepsii, mentální retardaci a dysartrii"]},"uk":{"name":"Фокальна епілепсія - інтелектуальна недостатність - церебро-мозочкова мальформація","synonyms":["Синдром фокальної епілепсії-інтелектуальної недостатності-дизартрії-атаксії"],"definition":"Focal epilepsy-intellectual disability-cerebro-cerebellar malformation is a rare, genetic neurological disorder characterized by early infantile-onset of seizures, borderline to moderate intellectual disability, cerebellar features including dysarthria and ataxia and cerebellar atrophy and cortical thickening observed on MRI imaging. Seizures are typically focal (with prominent eye blinking, facial and limb jerking), precipitated by fever and often commence with an oral sensory aura (anesthetized tongue sensation). When not properly controlled by anti-epileptic medication, weekly frequency and persistance into adult life is observed."},"zh":{"name":"局灶性癫痫-智力障碍-脑小脑畸形","synonyms":["局灶性癫痫-智力障碍-构音障碍-共济失调综合征"],"definition":"局灶性癫痫-智力障碍-大脑小脑畸形是一种罕见的遗传性神经疾病，其特征是早期婴儿癫痫发作及边缘至中度智力障碍。MRI可观察到的小脑特征包括构音障碍、共济失调、小脑萎缩和皮质增厚。癫痫发作通常是局灶性的(伴有明显的眨眼、面部和肢体痉挛)，由发热引起，通常起始于口腔感官先兆(舌头麻痹)。若没有适当的抗癫痫药物加以控制，可以每周一次的频率发作并持续到成年后。"},"tr":{"name":"Fokal epilepsi-zihinsel yetersizlik-serebro-serebellar malformasyon","synonyms":["Fokal epilepsi-zihinsel yetersizlik-dizartri-ataksi sendromu"]}},"xrefs":[{"source":"OMIM","code":"605021","qualifier":"NTBT","icd_relation":null,"validated":true},{"source":"ICD-10","code":"Q04.8","qualifier":"NTBT","icd_relation":"attributed","validated":true},{"source":"MONDO","code":"0018125","qualifier":"E","icd_relation":null,"validated":true},{"source":"UMLS","code":"C4707306","qualifier":"E","icd_relation":null,"validated":true}],"associations":[],"incoming_associations":[],"preferential_parent":{"orpha":98006,"name":"Rare neurologic disease"},"parents":[{"orpha":166478,"name":"Cerebral malformation with epilepsy","classifications":[156,181]},{"orpha":611327,"name":"Genetic multiple congenital anomalies/dysmorphic syndrome-intellectual disability","classifications":[156]},{"orpha":166472,"name":"Monogenic disease with epilepsy","classifications":[156,181]},{"orpha":102283,"name":"Multiple congenital anomalies/dysmorphic syndrome-intellectual disability","classifications":[147,181]}],"children":[],"genes":[{"symbol":"TBC1D24","name":"TBC1 domain family member 24","gene_type":"gene with protein product","association":"Disease-causing germline mutation(s) in","status":"Assessed","source":"23517570[PMID]","hgnc":"29203","ensembl":"ENSG00000162065","omim":"613577","loci":["16p13.3"]}],"genes_via_subtypes":[],"inheritance":["Autosomal recessive"],"onset":["Infancy"],"prevalence":[{"type":"Cases/families","qualification":"Case(s)","class":null,"value":7.0,"area":"Worldwide","status":"Validated","source":"23517570[PMID]"},{"type":"Point prevalence","qualification":"Class only","class":"<1 / 1 000 000","value":0.0,"area":"Worldwide","status":"Validated","source":"ORPHANET"}],"phenotypes":null}