{"orpha":3350,"name":"Tremor-nystagmus-duodenal ulcer syndrome","type":"Disease","group":"Disorder","status":"historical","flags":[],"synonyms":["Neuhauser-Daly-Magnelli syndrome"],"definition":"Tremor-nystagmus-duodenal ulcer syndrome is a rare hyperkinetic movement disorder characterized by mild to severe, progressive essential tremor, nystagmus (principally horizontal), duodenal ulceration and a narcolepsy-like sleep disturbance. Refractive errors and cerebellar signs, such as gait ataxia and adiadochokinesia, may be associated. There have been no further descriptions in the literature since 1976.","note":null,"url":"https://raremap.alftech.space/d/ORPHA-3350/","orphanet_url":"https://www.orpha.net/en/disease/detail/3350","names":{"fr":{"name":"Syndrome de tremblement essentiel-nystagmus-ulcère","synonyms":["Syndrome de Neuhauser-Daly-Magnelli"],"definition":"Syndrome de trouble du mouvement hyperkinétique rare caractérisé par un tremblement essentiel progressif léger à sévère, un nystagmus (principalement horizontal), un ulcère duodénal et un trouble du sommeil de type narcolepsie. Des erreurs de réfraction et des signes cérébelleux, tels qu'une ataxie de la marche et une adiadococinésie, peuvent être associés. Aucun cas n'a été décrit dans la littérature depuis 1976."},"de":{"name":"Tremor - Nystagmus - Ulkus"},"es":{"name":"Síndrome de temblor esencial-nistagmo-úlcera duodenal","synonyms":["Síndrome de Neuhauser-Daly-Magnelli"],"definition":"Es un trastorno del movimiento hipercinético poco frecuente que se caracteriza por temblor esencial progresivo de leve a grave, nistagmo (principalmente horizontal), ulceración duodenal y una alteración del sueño similar a narcolepsia. Puede tener asociados errores de refracción y signos cerebelosos, tales como ataxia de la marcha y adiadococinesia. No ha habido más casos descritos en la literatura desde 1976."},"it":{"name":"Tremore essenziale - nistagmo - ulcera","synonyms":["Sindrome di Neuhauser-Daly-Magnelli"],"definition":"La sindrome che associa il tremore, il nistagmo e l'ulcera duodenale è una malattia rara del movimento associata ad ipercinesia, con tremore essenziale progressivo lieve-grave, nistagmo (per lo più di tipo orizzontale), ulcera duodenale e disturbo del sonno simil-narcolessia. Può associarsi ad errori refrattivi e segni cerebellari, compresa l'andatura atassica e l'adiadococinesia. Non sono stati descritti nuovi casi dopo il 1976."},"nl":{"name":"Tremor - nystagmus - duodenale ulcus-syndroom","synonyms":["Syndroom van Neuhauser-Daly-Magnelli"],"definition":"Tremor - nystagmus - duodenale ulcus-syndroom is een zeldzame hyperkinetische bewegingsstoornis die gekarakteriseerd wordt door milde tot ernstige, progressieve essentiële tremor, nystagmus (voornamelijk horizontale), verzwering van het duodenum en een narcolepsie-achtige slaapstoornis. Refractiefouten en cerebellaire tekenen, zoals gangataxie en adiadochokinesie, kunnen geassocieerd zijn. Sinds 1976 zijn er geen bijkomende beschrijvingen in de literatuur."},"pt":{"name":"Síndrome de tremor-nistagmo-úlcera duodenal","synonyms":["Síndrome Neuhauser-Daly-Magnelli"]},"pl":{"name":"Drżenie - oczopląs - wrzód dwunastnicy","synonyms":["Zespół Neuhausera, Daly i Magnelli"]},"cs":{"name":"Syndrom zahrnující tremor, nystagmus a duodenální vřed","synonyms":["Neuhauserův-Dalyho-Magnelliové syndrom","Neuhauser-Daly-Magnelliové syndrom"]},"uk":{"name":"Синдром виразки дванадцятипалої кишки-тремору-ністагму","synonyms":["Синдром Нойхаузера-Дейлі-Магнеллі"],"definition":"Tremor-nystagmus-duodenal ulcer syndrome is a rare hyperkinetic movement disorder characterized by mild to severe, progressive essential tremor, nystagmus (principally horizontal), duodenal ulceration and a narcolepsy-like sleep disturbance. Refractive errors and cerebellar signs, such as gait ataxia and adiadochokinesia, may be associated. There have been no further descriptions in the literature since 1976."},"zh":{"name":"震颤-眼震-十二指肠溃疡综合征","synonyms":["Neuhauser-Daly-Magnelli综合征"]},"tr":{"name":"Tremor-nistagmus-duodenal ülser sendromu","synonyms":["Neuhauser-Daly-Magnelli sendromu"]}},"xrefs":[{"source":"OMIM","code":"190310","qualifier":"E","icd_relation":null,"validated":true},{"source":"ICD-10","code":"G25.0","qualifier":"NTBT","icd_relation":"attributed","validated":true},{"source":"MONDO","code":"0008591","qualifier":"E","icd_relation":null,"validated":true},{"source":"MeSH","code":"C536406","qualifier":"E","icd_relation":null,"validated":true},{"source":"UMLS","code":"C1860860","qualifier":"E","icd_relation":null,"validated":true}],"associations":[],"incoming_associations":[],"preferential_parent":{"orpha":98006,"name":"Rare neurologic disease"},"parents":[{"orpha":306712,"name":"Rare tremor disorder","classifications":[181]}],"children":[],"genes":[],"genes_via_subtypes":[],"inheritance":[],"onset":["Neonatal"],"prevalence":[{"type":"Cases/families","qualification":"Case(s)","class":null,"value":17.0,"area":"Worldwide","status":"Validated","source":"1248168[PMID]"},{"type":"Point prevalence","qualification":"Class only","class":"<1 / 1 000 000","value":0.0,"area":"Worldwide","status":"Validated","source":"ORPHANET_1248168[PMID]"}],"phenotypes":{"validation_status":"y","online":"y","validation_date":"2017-09-14","source":null,"terms":[{"hpo":"HP:0100022","label":"Abnormality of movement","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0002588","label":"Duodenal ulcer","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0000639","label":"Nystagmus","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0001251","label":"Ataxia","frequency":"Frequent (79-30%)","criteria":null}]}}