{"orpha":1179,"name":"Benign paroxysmal tonic upgaze of childhood with ataxia","type":"Disease","group":"Disorder","status":"active","flags":[],"synonyms":["Ouvrier-Billson syndrome"],"definition":"Benign paroxysmal tonic upgaze of childhood with ataxia is a rare paroxysmal movement disorder characterized by episodes of sustained, conjugate, upward deviation of the eyes and down beating saccades in attempted downgaze (with preserved horizontal eye movements) which is accompanied by ataxic symptomatology (unsteady gait, lack of balance and movement coordination disturbances) in an otherwise healthy individual. Bilateral vertical nystagmus is associated. Symptoms generally disappear spontaneously within 1-2 years after onset.","note":null,"url":"https://raremap.alftech.space/d/ORPHA-1179/","orphanet_url":"https://www.orpha.net/en/disease/detail/1179","names":{"fr":{"name":"Déviation tonique paroxystique bénigne du regard avec ataxie","synonyms":["Syndrome d'Ouvrier-Billson"],"definition":"La déviation tonique paroxystique bénigne du regard avec ataxie est un trouble rare du mouvement paroxystique caractérisé par des épisodes de déviation conjuguée et soutenue des yeux vers le haut, et des saccades rythmées vers le bas lorsque le patient tente de regarder vers le bas (les mouvements oculaires horizontaux sont préservés). Elle s'accompagne d'une symptomatologie ataxique (démarche instable, trouble de l'équilibre, trouble de la coordination des mouvements) chez des patients apparemment sains. Un nystagmus vertical bilatéral est associé. Habituellement, les signes disparaissent spontanément un à deux ans après leur apparition."},"de":{"name":"Ataxie mit tonischer Aufwärtsabweichung der Augen","synonyms":["Ouvrier-Billson-Syndrom"],"definition":"Eine seltene paroxysmale Bewegungsstörung, die durch Episoden anhaltender, konjugierter Aufwärtsabweichung der Augen und abwärtsschlagender Sakkaden bei versuchtem Abwärtsblick (mit erhaltenen horizontalen Augenbewegungen) gekennzeichnet ist und von einer ataktischen Symptomatik (unsicherer Gang, Gleichgewichtsstörungen und Störungen der Bewegungskoordination) bei einem ansonsten gesunden Individuum begleitet wird. Ein bilateraler vertikaler Nystagmus ist assoziiert. Die Symptome verschwinden in der Regel spontan innerhalb von 1-2 Jahren nach Auftreten."},"es":{"name":"Desviación tónica paroxística benigna de la mirada hacia arriba de la infancia con ataxia","synonyms":["Síndrome de Ouvrier-Billson"],"definition":"La desviación tónica paroxística benigna de la mirada hacia arriba de la infancia con ataxia es un trastorno poco frecuente de los trastornos paroxísticos del movimiento. Se caracteriza por episodios de desviación sostenida, conjugada y ascendente de los ojos y movimientos sacádicos hacia abajo en el intento de bajar la mirada (con conservación de los movimientos oculares horizontales) acompañado de sintomatología atáxica (marcha inestable, falta de equilibrio y alteraciones en la coordinación del movimiento) en un individuo por lo demás saludable. Está asociado a nistagmo vertical bilateral. Por lo general, los síntomas desaparecen espontáneamente entre 1-2 años después del inicio."},"it":{"name":"Deviazione superiore tonica parossistica benigna infantile degli occhi con atassia","synonyms":["Sindrome di Ouvrier-Billson"],"definition":"La deviazione superiore tonica parossistica benigna degli occhi ad insorgenza nell'infanzia associata ad atassia è un'anomalia parossistica rara del movimento, caratterizzata da episodi di deviazione superiore degli occhi simultanea e prolungata nel tempo e da saccadi a scatto verso il basso quando il paziente cerca di deviare lo sguardo verso il basso (i movimenti orizzontali degli occhi sono conservati), associati a sintomatologia atassica (andatura instabile, mancanza dell'equilibrio e anomalie della coordinazione del movimento) in pazienti per il resto apparentemente sani. È presente anche il nistagmo verticale bilaterale. In genere i sintomi scompaiono spontaneamente dopo 1-2 anni dall'esordio."},"nl":{"name":"Goedaardig paroxysmaal tonisch omhoogdraaien van ogen in de kindertijd met ataxie","synonyms":["Syndroom van Ouvrier-Billson"],"definition":"Goedaardig paroxysmaal tonisch omhoog draaien van de ogen in de kindertijd met ataxie is een zeldzame paroxysmale bewegingsstoornis die wordt gekarakteriseerd door episodes met een aanhoudende, geconjugeerde, opwaartse afwijking van de ogen en schokkende neerwaartse bewegingen in een poging naar omlaag te kijken (met behoud van horizontale oogbewegingen), vergezeld van ataxische symptomatologie (onstabiele gang, gebrek aan evenwicht en verstoorde coördinatie van bewegingen) in een voor het overige gezond individu. Bilaterale verticale nystagmus is geassocieerd. Doorgaans verdwijnen symptomen spontaan binnen 1-2 jaar na aanvang."},"pt":{"name":"Desvio tónico paroxístico benigno do olhar da infância com ataxia","synonyms":["Síndrome Ouvrier-Billson"]},"pl":{"name":"Napadowe toniczne patrzenie ku górze u niemowląt z ataksją","synonyms":["Zespół Ouvriera i Billsona"]},"cs":{"name":"Benigní paroxyzmální tonický pohled dětského věku s ataxií","synonyms":["Ouvrierův-Billsonův syndrom","Ouvrier-Billsonův syndrom"]},"uk":{"name":"Доброякісне пароксизмальне тонічне відведення погляду вгору дитячого віку з атаксією","synonyms":["Синдром Оврієра-Білльсона"],"definition":"Benign paroxysmal tonic upgaze of childhood with ataxia is a rare paroxysmal movement disorder characterized by episodes of sustained, conjugate, upward deviation of the eyes and down beating saccades in attempted downgaze (with preserved horizontal eye movements) which is accompanied by ataxic symptomatology (unsteady gait, lack of balance and movement coordination disturbances) in an otherwise healthy individual. Bilateral vertical nystagmus is associated. Symptoms generally disappear spontaneously within 1-2 years after onset."},"zh":{"name":"儿童良性阵发性强直性上凝视伴共济失调","synonyms":["Ouvrier-Billson综合征"]},"tr":{"name":"Çocukluk çağında ataksi ile birlikte selim tonik yukarı bakışlı paroksismal nöbet","synonyms":["Ouvrier-Billson sendromu"]}},"xrefs":[{"source":"OMIM","code":"168885","qualifier":"E","icd_relation":null,"validated":true},{"source":"ICD-10","code":"G96.8","qualifier":"NTBT","icd_relation":"attributed","validated":true},{"source":"ICD-11","code":"9C83.11","qualifier":"NTBT","icd_relation":"index","validated":true,"icd11_uri":"1667853234"},{"source":"MONDO","code":"0008206","qualifier":"E","icd_relation":null,"validated":true},{"source":"MeSH","code":"C566817","qualifier":"E","icd_relation":null,"validated":true},{"source":"UMLS","code":"C1868576","qualifier":"E","icd_relation":null,"validated":true},{"source":"GARD","code":"4176","qualifier":"E","icd_relation":null,"validated":true}],"associations":[],"incoming_associations":[],"preferential_parent":{"orpha":98006,"name":"Rare neurologic disease"},"parents":[{"orpha":306768,"name":"Rare paroxysmal movement disorder","classifications":[156,181]}],"children":[],"genes":[],"genes_via_subtypes":[],"inheritance":[],"onset":["Infancy","Neonatal"],"prevalence":[{"type":"Cases/families","qualification":"Case(s)","class":null,"value":12.0,"area":"Worldwide","status":"Validated","source":"8495825[PMID]"},{"type":"Point prevalence","qualification":"Class only","class":"<1 / 1 000 000","value":0.0,"area":"Worldwide","status":"Validated","source":"ORPHANET_8495825[PMID]"}],"phenotypes":{"validation_status":"y","online":"y","validation_date":"2016-06-01","source":null,"terms":[{"hpo":"HP:0000496","label":"Abnormality of eye movement","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0002131","label":"Episodic ataxia","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0000639","label":"Nystagmus","frequency":"Very frequent (99-80%)","criteria":null}]}}