{"orpha":306776,"name":"Sporadic hyperekplexia","type":"Disease","group":"Disorder","status":"active","flags":[],"synonyms":[],"definition":"A rare neurologic disease characterized by excessive startle response to unexpected auditory, tactile or visual stimuli, associated with hyperreflexia.","note":null,"url":"https://raremap.alftech.space/d/ORPHA-306776/","orphanet_url":"https://www.orpha.net/en/disease/detail/306776","names":{"fr":{"name":"Hyperexplexie sporadique","definition":"Maladie neurologique rare caractérisée par une réaction excessive à des stimuli visuels, tactiles ou auditifs inattendus, associée à une hyperréflexie."},"de":{"name":"Hyperekplexie, sporadische"},"es":{"name":"Hiperekplexia esporádica","synonyms":["Hiperecplexia esporádica","Hiperplexia esporádica"],"definition":"Es una enfermedad neurológica poco frecuente caracterizada por un reflejo de sobresalto exagerado en respuesta a estímulos auditivos, táctiles o visuales inesperados, asociada a hiperreflexia."},"it":{"name":"Iperecplessia sporadica","definition":"È una malattia neurologica rara caratterizzata da un anomalo soprassalto in risposta a stimoli uditivi, tattili o visivi improvvisi, associata a iperreflessia. È un'epilessia genetica rara caratterizzata da crisi epilettiche parziali semplici o complesse per lo più benigne accompagnate da aure autonomiche o psichiche. Le crisi sono rare, di breve durata e di solito rispondono bene alla terapia farmacologica. Lo sviluppo e l'intelligenza sono normali."},"nl":{"name":"Sporadische hyperekplexie","definition":"Een zeldzame, neurologische ziekte die gekarakteriseerd wordt door een overmatige schrikreactie op onverwachte auditieve, tactiele of visuele stimuli, geassocieerd met hyperreflexie."},"pt":{"name":"Hiperecplexia esporádica"},"pl":{"name":"Hiperekpleksja sporadyczna"},"cs":{"name":"Sporadická hyperekplexie"},"uk":{"name":"Спорадична гіперекплексія","definition":"A rare neurologic disease characterized by excessive startle response to unexpected auditory, tactile or visual stimuli, associated with hyperreflexia."},"zh":{"name":"散发的过度惊吓反应症","definition":"一种罕见的神经疾病，其特征是对意外的听觉、触觉或视觉刺激产生过度惊跳反射，伴反射亢进。"},"tr":{"name":"Sporadik hiperekpleksi"}},"xrefs":[{"source":"ICD-10","code":"G25.8","qualifier":"NTBT","icd_relation":"attributed","validated":true},{"source":"MONDO","code":"0017659","qualifier":"E","icd_relation":null,"validated":true},{"source":"UMLS","code":"C5191042","qualifier":"E","icd_relation":null,"validated":true}],"associations":[],"incoming_associations":[],"preferential_parent":{"orpha":98006,"name":"Rare neurologic disease"},"parents":[{"orpha":306773,"name":"Hyperekplexia","classifications":[181]}],"children":[],"genes":[],"genes_via_subtypes":[],"inheritance":[],"onset":[],"prevalence":[],"phenotypes":null}