{"orpha":279882,"name":"Spasmus nutans","type":"Clinical syndrome","group":"Disorder","status":"active","flags":[],"synonyms":[],"definition":"Spasmus nutans (SN) is a rare eye disease characterized by the clinical triad of asymmetric and pendular nystagmus, head nodding, and torticollis.","note":null,"url":"https://raremap.alftech.space/d/ORPHA-279882/","orphanet_url":"https://www.orpha.net/en/disease/detail/279882","names":{"fr":{"name":"Spasmus nutans","definition":"Le spasmus nutans est une maladie oculaire rare caractérisée par la triade clinique : nystagmus pendulaire asymétrique, hochement de la tête et torticolis."},"de":{"name":"Spasmus nutans","definition":"Der Spasmus nutans (SN), eine seltene Störung der Augen, ist gekennzeichnet durch die klinische Trias 'Asymmetrischer Pendelnystagmus, Kopfnicken und Torticollis (Schiefhals)'."},"es":{"name":"Espasmo nutans","definition":"El espasmo nutans (SN) es una enfermedad ocular rara caracterizada por la tríada clínica de nistagmo pendular y asimétrico, cabeceo y tortícolis."},"it":{"name":"Spasmus nutans","definition":"Lo spasmus nutans (SN) è una malattia oculare rara caratterizzata dalla triade clinica: nistagmo pendolare e asimmetrico, ciondolamento del capo e torcicollo."},"nl":{"name":"Spasmus nutans","definition":"Spasmus nutans (SN) is een zeldzame oogaandoening die gekarakteriseerd wordt door de klinische triade van asymmetrische en pendulaire nystagmus, hoofdknikken, en torticollis."},"pt":{"name":"Spasmus nutans"},"pl":{"name":"Utrzymujące się drgawki","definition":"Spasmus nutans (SN) to rzadka choroba oczu charakteryzująca się triadą objawów klinicznych: asymetrycznym i wahadłowym oczopląsem, kiwaniem głową i kręczem szyi."},"cs":{"name":"Spasmus nutans"},"uk":{"name":"Spasmus nutans","definition":"Spasmus nutans (SN) is a rare eye disease characterized by the clinical triad of asymmetric and pendular nystagmus, head nodding, and torticollis."},"zh":{"name":"点头状痉挛","definition":"点头状痉挛是一种罕见的眼病，临床表现为非对称性、摆动性眼球震颤、点头和斜颈三联征。"},"tr":{"name":"Spasmus nutans"}},"xrefs":[{"source":"ICD-10","code":"F98.4","qualifier":"NTBT","icd_relation":"index","validated":true},{"source":"ICD-11","code":"8A04.Y","qualifier":"NTBT","icd_relation":"index","validated":true,"icd11_uri":"1868433558"},{"source":"MONDO","code":"0017201","qualifier":"E","icd_relation":null,"validated":true},{"source":"UMLS","code":"C1527306","qualifier":"E","icd_relation":null,"validated":true},{"source":"MedDRA","code":"10059593","qualifier":"E","icd_relation":null,"validated":true}],"associations":[],"incoming_associations":[],"preferential_parent":{"orpha":97966,"name":"Rare ophthalmic disorder"},"parents":[{"orpha":519341,"name":"Rare brainstem or cerebellar disorder with ophthalmic involvement as a major feature","classifications":[189]}],"children":[],"genes":[],"genes_via_subtypes":[],"inheritance":["Unknown"],"onset":["Infancy"],"prevalence":[{"type":"Point prevalence","qualification":"Class only","class":"Unknown","value":0.0,"area":"Worldwide","status":"Validated","source":"ORPHANET"}],"phenotypes":{"validation_status":"y","online":"y","validation_date":"2016-06-01","source":null,"terms":[{"hpo":"HP:0100022","label":"Abnormality of movement","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0000639","label":"Nystagmus","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0000473","label":"Torticollis","frequency":"Very frequent (99-80%)","criteria":null}]}}