{"orpha":284282,"name":"Autosomal recessive cerebellar ataxia-epilepsy-intellectual disability syndrome due to WWOX deficiency","type":"Disease","group":"Disorder","status":"active","flags":[],"synonyms":["Autosomal recessive spinocerebellar ataxia type 12","SCAR12"],"definition":"A rare autosomal recessive cerebellar ataxia-epilepsy-intellectual disability syndrome characterized by early-childhood onset of cerebellar ataxia associated with generalized tonic-clonic epilepsy and psychomotor development delay, dysarthria, gaze-evoked nystagmus and learning disability. Other features in some patients include upper motor neuron signs with leg spasticity and extensor plantar responses, and mild cerebellar atrophy on brain MRI.","note":null,"url":"https://raremap.alftech.space/d/ORPHA-284282/","orphanet_url":"https://www.orpha.net/en/disease/detail/284282","names":{"fr":{"name":"Syndrome d'ataxie cérébelleuse autosomique récessive-épilepsie-déficience intellectuelle par déficit de WWOX","synonyms":["Ataxie spinocérébelleuse autosomique récessive type 12","SCAR12"],"definition":"Syndrome d'ataxie cérébelleuse autosomique dominante-épilepsie-déficience intellectuelle rare, caractérisé par une ataxie cérébelleuse apparaissant tôt dans l'enfance, associée à des crises épileptiques tonico-clonique généralisées, un retard de développement psychomoteur, une dysarthrie, un nystagmus du regard et des troubles de l'apprentissage. Par ailleurs, des signes d'atteinte du motoneurone supérieur accompagnés d'une spasticité des jambes et un signe de Babinski positif, ainsi qu'une légère atrophie cérébelleuse visible à l'IRM cérébrale, s'observent dans certains cas."},"de":{"name":"Autosomal-rezessive zerebelläre Ataxie-Epilepsie-Intelligenzminderung-Syndrom durch WWOX-Mangel","synonyms":["Ataxie, spinozerebelläre, autosomal-rezessive, Typ 12","SCAR12","Syndrom der autosomal-rezessiven zerebellären Ataxie mit Epilepsie und Intelligenzminderung durch WWOX-Defizienz"]},"es":{"name":"Síndrome de ataxia cerebelosa-epilepsia-discapacidad intelectual autosómico recesivo por deficiencia de WWOX","synonyms":["Ataxia espinocerebelosa autosómica recesiva tipo 12","SCAR12"],"definition":"Es un síndrome poco frecuente de ataxia cerebelosa-epilepsia y discapacidad intelectual autosómico recesivo caracterizado por el inicio en la infancia temprana de ataxia cerebelosa asociada a epilepsia tónico-clónica generalizada y retraso en el desarrollo psicomotor, disartria, nistagmo evocado por la mirada y discapacidad cognitiva. Otras características descritas en algunos casos incluyen signos de motoneurona superior con espasticidad en las piernas y respuestas plantares extensoras así como atrofia cerebelosa leve en la RM cerebral."},"it":{"name":"Sindrome autosomica recessiva atassia cerebellare-epilessia-disabilità intellettiva da deficit di WWOX","synonyms":["Atassia spinocerebellare autosomica recessiva 12","SCAR12"],"definition":"La sindrome autosomica recessiva da atassia cerebellare, epilessia e disabilità intellettiva da deficit di WWOX è una malattia rara ad eredità autosomica recessiva, che esordisce nella prima infanzia con atassia cerebellare associata a crisi epilettiche tonico-cloniche generalizzate, ritardo dello sviluppo psicomotorio, disartria, nistagmo evocato dallo sguardo e difficoltà di apprendimento. Alcuni pazienti presentano segni legati ai motoneuroni superiori, con spasticità delle gambe e risposte plantari in estensione e lieve atrofia cerebellare alla RMN del cervello."},"nl":{"name":"Autosomaal recessieve cerebellaire ataxie - epilepsie - intellectuele achterstand-syndroom door WWOX-deficiëntie","synonyms":["Autosomaal recessieve spinocerebellaire ataxie type 12","SCAR12"],"definition":"Een zeldzaam syndroom van autosomaal recessieve cerebellaire ataxie, epilepsie en intellectuele achterstand, gekarakteriseerd door aanvang in de vroege kindertijd van cerebellaire ataxie geassocieerd met gegeneraliseerde tonisch-clonische epilepsie en psychomotorische ontwikkelingsachterstand, dysartrie, blikrichtingsnystagmus en leerstoornis. Andere kenmerken bij sommige patiënten zijn onder meer tekenen van de bovenste motorneuronen met spasticiteit van de benen en voetzoolreflexen in extensie, en milde cerebellaire atrofie bij MRI van de hersenen."},"pt":{"name":"Síndrome de ataxia cerebelosa-epilepsia-perturbação do desenvolvimento intelectual autossómica recessiva por deficiência WWOX","synonyms":["Ataxia espinhocerebelosa autossómica recessiva tipo 12","SCAR12"]},"pl":{"name":"Zespół autosomalna recesywna ataksja móżdżkowa, padaczka i niepełnosprawność intelektualna z powodu niedoboru WWOX","synonyms":["Autosomalna recesywna ataksja rdzeniowo-móżdżkowa-12","SCAR12"]},"cs":{"name":"Autozomálně recesivní spinocerebelární ataxie, typ 12","synonyms":["SCAR12","Syndrom zahrnující autozomálně recesivní spinocerebelární ataxii, epilepsii a mentální retardaci, způsobený deficitem WWOX"]},"uk":{"name":"Аутосомно-рецесивний синдром мозочкової атаксії-епілепсії-інтелектуальної недостатності внаслідок дефіциту WWOX","synonyms":["Аутосомно-рецесивна спіноцеребеллярна атаксія, тип 12","SCAR12"],"definition":"A rare autosomal recessive cerebellar ataxia-epilepsy-intellectual disability syndrome characterized by early-childhood onset of cerebellar ataxia associated with generalized tonic-clonic epilepsy and psychomotor development delay, dysarthria, gaze-evoked nystagmus and learning disability. Other features in some patients include upper motor neuron signs with leg spasticity and extensor plantar responses, and mild cerebellar atrophy on brain MRI."},"zh":{"name":"WWOX基因缺陷所致常染色体隐性小脑共济失调-癫痫-智障综合征","synonyms":["常染色体隐性遗传脊髓小脑共济失调12型"],"definition":"WWOX基因缺陷所致常染色体隐性遗传小脑共济失调-癫痫-智力残疾综合征是一种罕见的常染色体隐性遗传小脑共济失调--癫痫-智力残疾综合征，其特征是儿童早期出现小脑共济失调，伴全身强直阵挛性癫痫和精神运动发育延迟、构音障碍、凝视诱发眼震和学习障碍。一些患者有上运动神经元征象伴腿部痉挛和伸肌足底反应，及脑部MRI表现为轻度小脑萎缩。"},"tr":{"name":"WWOX eksikliğine bağlı otozomal resesif serebellar ataksi-epilepsi-zihinsel yetersizlik sendromu","synonyms":["SCAR12","Otozomal çekinik spinoserebellar ataksi tip 12"]}},"xrefs":[{"source":"OMIM","code":"614322","qualifier":"E","icd_relation":null,"validated":true},{"source":"ICD-10","code":"G11.1","qualifier":"NTBT","icd_relation":"attributed","validated":true},{"source":"MONDO","code":"0013687","qualifier":"E","icd_relation":null,"validated":true},{"source":"UMLS","code":"C3280452","qualifier":"E","icd_relation":null,"validated":true}],"associations":[],"incoming_associations":[],"preferential_parent":{"orpha":98006,"name":"Rare neurologic disease"},"parents":[{"orpha":404481,"name":"Autosomal recessive cerebellar ataxia-epilepsy-intellectual disability syndrome","classifications":[156,181]}],"children":[],"genes":[{"symbol":"WWOX","name":"WW domain containing oxidoreductase","gene_type":"gene with protein product","association":"Disease-causing germline mutation(s) (loss of function) in","status":"Assessed","source":"24369382[PMID]","hgnc":"12799","ensembl":"ENSG00000186153","omim":"605131","loci":["16q23.1-q23.2"]}],"genes_via_subtypes":[],"inheritance":["Autosomal recessive"],"onset":["Infancy","Neonatal"],"prevalence":[{"type":"Point prevalence","qualification":"Class only","class":"<1 / 1 000 000","value":0.0,"area":"Europe","status":"Not yet validated","source":"ORPHANET"}],"phenotypes":{"validation_status":"y","online":"y","validation_date":"2018-04-10","source":"17470496[PMID]","terms":[{"hpo":"HP:0000750","label":"Delayed speech and language development","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0001260","label":"Dysarthria","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0002066","label":"Gait ataxia","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0001265","label":"Hyporeflexia","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0002070","label":"Limb ataxia","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0001270","label":"Motor delay","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0000639","label":"Nystagmus","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0002839","label":"Urinary bladder sphincter dysfunction","frequency":"Occasional (29-5%)","criteria":null}]}}