{"orpha":166427,"name":"Startle epilepsy","type":"Disease","group":"Disorder","status":"active","flags":[],"synonyms":[],"definition":"Startle epilepsy is a rare neurologic disease characterized by frequent and spontaneous epileptic seizures (frequently with symmetrical or asymmetrical tonic features) triggered by a normal startle in response to a sudden and unexpected somatosensory (most frequently auditory) stimulus. Falls are common and can be traumatic. In most cases, the disease is associated with spastic hemi-, di-, or tetraplegia and intellectual disability.","note":null,"url":"https://raremap.alftech.space/d/ORPHA-166427/","orphanet_url":"https://www.orpha.net/en/disease/detail/166427","names":{"fr":{"name":"Epilepsie-sursaut","definition":"L'épilepsie sursaut est une maladie neurologique rare caractérisée par des crises épileptiques spontanées et fréquentes (avec le plus souvent des caractéristiques toniques symétriques ou asymétriques), déclenchées par un sursaut normal en réponse à un stimulus somato-sensoriel soudain ou inattendu (le plus souvent auditif). Les chutes sont fréquentes et peuvent être traumatiques. Dans la plupart des cas, la maladie est associée à une hémiplégie, une diplégie ou une tétraplégie, et un déficit intellectuel."},"de":{"name":"Schreckepilepsie","synonyms":["Startle-Epilepsie"],"definition":"Die Schreckepilepsie ist eine seltene neurologische Erkrankung, die durch häufige und spontane epileptische Anfälle (häufig mit symmetrischen oder asymmetrischen tonischen Merkmalen) gekennzeichnet ist, ausgelöst durch einen normalen Schreck als Reaktion auf einen plötzlichen und unerwarteten somatosensorischen (meist auditiven) Reiz. Stürze sind häufig und können traumatisch sein. In den meisten Fällen ist die Krankheit mit spastischer Hemi-, Di- oder Tetraplegie und Intelligenzminderung verbunden."},"es":{"name":"Epilepsia del sobresalto","definition":"La epilepsia del sobresalto es un tipo de epilepsia muy poco frecuente caracterizada por crisis epilépticas frecuentes y espontáneas (habitualmente con características tónicas simétricas o asimétricas) desencadenadas por un sobresalto normal en respuesta a un estímulo somatosensorial repentino e inesperado (con mayor frecuencia auditivo). Las caídas son comunes y pueden ser traumáticas. En la mayoría de los casos, la enfermedad se asocia con hemi-, di- o tetraplejía espástica y discapacidad intelectual."},"it":{"name":"Epilessia indotta da sussulti","definition":"L'epilessia da attacchi di sorpresa è una malattia neurologica rara caratterizzata da crisi epilettiche frequenti e spontanee (spesso simmetriche o asimmetriche toniche) scatenate da un normale soprassalto in risposta ad uno stimolo somato-sensoriale inaspettato (in genere acustico). Le cadute sono comuni e posso causare traumi. Nella maggior parte dei casi, la malattia si associa a emiplegia, diplegia o tetraplegia spastica e disabilità intellettiva."},"nl":{"name":"Schrikepilepsie","synonyms":["Epilepsie door schrikken"],"definition":"Schrikepilepsie is een zeldzame neurologische ziekte die gekarakteriseerd wordt door frequente en spontane epileptische aanvallen (vaak met symmetrische of asymmetrische tonische kenmerken) uitgelokt door een normale schrikreactie op een plotse en onverwachte somatosensorische (meestal auditieve) stimulus. Valpartijen komen geregeld voor en kunnen traumatisch zijn. In de meeste gevallen is de ziekte geassocieerd met spastische hemi-, di-, of tetraplegie en intellectuele achterstand."},"pt":{"name":"Epilepsia do susto"},"pl":{"name":"Padaczka z zaskoczenia"},"cs":{"name":"Úleková epilepsie"},"uk":{"name":"Епілепсія з рефлекторними судомами, повязаними з відчуттям переляку","definition":"Startle epilepsy is a rare neurologic disease characterized by frequent and spontaneous epileptic seizures (frequently with symmetrical or asymmetrical tonic features) triggered by a normal startle in response to a sudden and unexpected somatosensory (most frequently auditory) stimulus. Falls are common and can be traumatic. In most cases, the disease is associated with spastic hemi-, di-, or tetraplegia and intellectual disability."},"zh":{"name":"惊吓性癫痫","definition":"惊吓性癫痫是一种罕见的神经系统疾病，其特征是对突如其来或意想不到的躯体感觉刺激(听觉最常见)做出正常惊吓反应而引起的频繁和自发性癫痫发作(通常为对称或不对称的强直特征)。常见跌倒，且可能会造成创伤。在大多数病例中，该疾病与痉挛性偏瘫、双侧瘫痪或四肢瘫痪和智力障碍相关。"},"tr":{"name":"Startle epilepsisi"}},"xrefs":[{"source":"ICD-10","code":"G40.5","qualifier":"NTBT","icd_relation":"attributed","validated":true},{"source":"ICD-11","code":"8A61.40","qualifier":"NTBT","icd_relation":"index","validated":true,"icd11_uri":"1012101161"},{"source":"MONDO","code":"0015648","qualifier":"E","icd_relation":null,"validated":true},{"source":"UMLS","code":"C4706527","qualifier":"E","icd_relation":null,"validated":true}],"associations":[],"incoming_associations":[],"preferential_parent":{"orpha":98006,"name":"Rare neurologic disease"},"parents":[{"orpha":310,"name":"Reflex epilepsy","classifications":[156,181]}],"children":[],"genes":[],"genes_via_subtypes":[],"inheritance":[],"onset":[],"prevalence":[],"phenotypes":null}