{"orpha":3175,"name":"X-linked spasticity-intellectual disability-epilepsy syndrome","type":"Disease","group":"Disorder","status":"active","flags":[],"synonyms":[],"definition":"A rare ARX-related epileptic encephalopathy characterized by infantile onset of myoclonic epilepsy with generalized spasticity, severe global developmental delay, and moderate to profound intellectual disability. Obligate female carriers show subtle, generalized hyperreflexia. Late onset progressive spastic ataxia has also been reported.","note":null,"url":"https://raremap.alftech.space/d/ORPHA-3175/","orphanet_url":"https://www.orpha.net/en/disease/detail/3175","names":{"fr":{"name":"Syndrome de spasticité-déficience intellectuelle-épilepsie lié à l'X","definition":"Encéphalopathie épileptique rare liée à ARX, caractérisée par l'apparition infantile d'une épilepsie myoclonique avec spasticité généralisée, un retard de développement global sévère et une déficience intellectuelle modérée à profonde. Une hyperréflexie subtile et généralisée s'observe chez les femmes porteuses obligatoires. Une ataxie spastique progressive à apparition tardive a également été rapportée."},"de":{"name":"X-chromosomale Spastik-Intelligenzminderung-Epilepsie-Syndrom","definition":"Eine seltene ARX-assoziierte epileptische Enzephalopathie, die durch eine im Kindesalter einsetzende myoklonische Epilepsie mit generalisierter Spastik, schwerer globaler Entwicklungsverzögerung und mäßiger bis schwerer Intelligenzminderung gekennzeichnet ist. Weibliche Überträgerinnen zeigen eine subtile, generalisierte Hyperreflexie. Es wurde auch über eine spät einsetzende progressive spastische Ataxie berichtet."},"es":{"name":"Síndrome de espasticidad-discapacidad intelectual-epilepsia ligado al cromosoma X","definition":"Es una encefalopatía epiléptica poco frecuente asociada al gen ARX, caracterizada por el inicio en la lactancia de epilepsia mioclónica con espasticidad generalizada, grave retraso global del desarrollo y discapacidad intelectual de moderada a profunda. Las mujeres portadoras muestran una hiperreflexia leve y generalizada. También se ha descrito ataxia espástica progresiva de inicio tardío."},"it":{"name":"Sindrome spasticità-disabilità intellettiva-epilessia legata all'X","definition":"Si tratta di un'encefalopatia epilettica rara correlata ad ARX, caratterizzata da epilessia mioclonica ad esordio infantile associata a spasticità generalizzata, grave ritardo dello sviluppo globale e disabilità intellettiva moderata-profonda. Le portatrici obbligate presentano una lieve iperreflessia generalizzata. Sono stati documentati anche pazienti con un'atassia spastica progressiva ad esordio tardivo."},"nl":{"name":"X-gebonden spasticiteit - intellectuele achterstand - epilepsie-syndroom","definition":"Een zeldzame ARX-gerelateerde epileptische encefalopathie, gekarakteriseerd door infantiele aanvang van myoclonusepilepsie met gegeneraliseerde spasticiteit, ernstige algehele ontwikkelingsachterstand, en matige tot zeer ernstige intellectuele achterstand. Obligate vrouwelijke dragers vertonen subtiele, gegeneraliseerde hyperreflexie. Laat optredende progressieve spastische ataxie werd ook reeds gerapporteerd."},"pt":{"name":"Síndrome de espasticidade-perturbação do desenvolvimento intelectual-epilepsia ligada ao X"},"pl":{"name":"Spatyczność - niepełnosprawność intelektualna- padaczka sprzężona z chromosomem X"},"cs":{"name":"Syndrom zahrnující spasticitu, mentální retardaci a X-vázanou epilepsii"},"uk":{"name":"Х-зчеплений синдром спастичності-інтелектуальної недостатності-епілепсії","definition":"A rare ARX-related epileptic encephalopathy characterized by infantile onset of myoclonic epilepsy with generalized spasticity, severe global developmental delay, and moderate to profound intellectual disability. Obligate female carriers show subtle, generalized hyperreflexia. Late onset progressive spastic ataxia has also been reported."},"zh":{"name":"X连锁肌痉挛-智力障碍-癫痫综合征"},"tr":{"name":"X'e bağlı spastisite-zihinsel yetersizlik-epilepsi sendromu"}},"xrefs":[{"source":"OMIM","code":"308350","qualifier":"NTBT","icd_relation":null,"validated":true},{"source":"ICD-10","code":"G25.3","qualifier":"NTBT","icd_relation":"attributed","validated":true},{"source":"MONDO","code":"0017856","qualifier":"E","icd_relation":null,"validated":true},{"source":"UMLS","code":"C4510949","qualifier":"E","icd_relation":null,"validated":true}],"associations":[],"incoming_associations":[],"preferential_parent":{"orpha":98006,"name":"Rare neurologic disease"},"parents":[{"orpha":182079,"name":"ARX-related epileptic encephalopathy","classifications":[156,181]},{"orpha":611314,"name":"Rare syndromic intellectual disability without multiple congenital anomalies/dysmorphic syndrome","classifications":[156,181]}],"children":[],"genes":[{"symbol":"ARX","name":"aristaless related homeobox","gene_type":"gene with protein product","association":"Disease-causing germline mutation(s) in","status":"Assessed","source":"12177367[PMID]","hgnc":"18060","ensembl":"ENSG00000004848","omim":"300382","loci":["Xp21.3"]}],"genes_via_subtypes":[],"inheritance":["X-linked recessive"],"onset":["Infancy","Neonatal"],"prevalence":[{"type":"Cases/families","qualification":"Case(s)","class":null,"value":6.0,"area":"Worldwide","status":"Validated","source":"12177367[PMID]"},{"type":"Point prevalence","qualification":"Class only","class":"<1 / 1 000 000","value":0.0,"area":"Worldwide","status":"Validated","source":"ORPHANET_12177367[PMID]"}],"phenotypes":{"validation_status":"y","online":"y","validation_date":"2017-08-01","source":null,"terms":[{"hpo":"HP:0002301","label":"Hemiplegia","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0001276","label":"Hypertonia","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0001249","label":"Intellectual disability","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0003552","label":"Muscle stiffness","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0002063","label":"Rigidity","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0001257","label":"Spasticity","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0002133","label":"Status epilepticus","frequency":"Very frequent (99-80%)","criteria":null}]}}