{"orpha":586130,"name":"Sporadic fatal insomnia","type":"Disease","group":"Disorder","status":"active","flags":[],"synonyms":[],"definition":"A rare sporadic human prion disease characterized by adult onset of progredient neurodegeneration presenting as a combination of psychiatric, sleep, and oculomotor disturbances, with development of progressive cognitive impairment (the predominantly affected cognitive domains being memory, temporal and/or spatial orientation, language, executive functions, and attention), postural instability, and sometimes additional motor abnormalities and autonomic hyperactivity, in the course of the disease. Bilateral thalamic hypometabolism on FDG-PET imaging and positive prion seeding activity in the cerebrospinal fluid are present in many cases. The disease is fatal within typically two to three years.","note":null,"url":"https://raremap.alftech.space/d/ORPHA-586130/","orphanet_url":"https://www.orpha.net/en/disease/detail/586130","names":{"fr":{"name":"Insomnie fatale sporadique","definition":"Maladie à prions humaine sporadique rare, caractérisée par l'apparition à l'âge adulte d'une neurodégénérescence progressive se présentant sous la forme d'une combinaison de troubles psychiatriques, du sommeil et oculomoteurs, et du développement d'une déficience cognitive progressive (les domaines de la cognition principalement touchés étant la mémoire, l'orientation temporelle et/ou spatiale, le langage, le réseau exécutif attentionnel), d'une instabilité posturale, et parfois d'autres anomalies motrices et d'une hyperactivité autonome, au cours de la maladie. Un hypométabolisme thalamique bilatéral mesuré en TEP-FDG et une activité d'ensemencement en prions positive dans le liquide céphalo-rachidien sont présents dans de nombreux cas. L'issue de la maladie est fatale après deux à trois ans d'évolution."},"de":{"name":"Insomnie, fatale sporadische","synonyms":["SFI"],"definition":"Eine sporadisch auftretende Prionenkrankheit des Menschen, bei der im Erwachsenenalter eine progrediente Neurodegeneration einsetzt, die sich als eine Kombination aus psychiatrischen, schlafbezogenen und okulomotorischen Störungen äußert, wobei sich im Verlauf der Krankheit eine fortschreitende kognitive Beeinträchtigung (die vorwiegend betroffenen kognitiven Bereiche sind Gedächtnis, zeitliche und/oder räumliche Orientierung, Sprache, exekutive Funktionen und Aufmerksamkeit), Haltungsinstabilität und manchmal zusätzliche motorische Anomalien und autonome Hyperaktivität entwickeln. Bilateraler Thalamus-Hypometabolismus in der FDG-PET-Bildgebung und eine positive Keimbildungsaktivität der Prionen im Liquor sind in vielen Fällen vorhanden. Die Krankheit verläuft in der Regel innerhalb von zwei bis drei Jahren tödlich."},"es":{"name":"Insomnio fatal esporádico","definition":"Es una enfermedad priónica humana esporádica poco frecuente caracterizada por la aparición en el adulto de neurodegeneración progresiva que se presenta como una combinación de trastornos psiquiátricos, del sueño y oculomotores, con desarrollo de deterioro cognitivo progresivo (los dominios cognitivos predominantemente afectados son la memoria, la orientación temporal y/o espacial, el lenguaje, las funciones ejecutivas y la atención), inestabilidad postural y, en ocasiones, anomalías motoras adicionales e hiperactividad autonómica, durante el curso de la enfermedad. En muchos casos se detecta hipometabolismo talámico bilateral en las imágenes de PET-FDG y detección positiva de priones en líquido cefalorraquídeo. La enfermedad suele ser mortal en un plazo de dos a tres años."},"it":{"name":"Insonnia sporadica letale","definition":"Si tratta di una malattia umana sporadica rara da prioni, che esordisce nell'età adulta con neurodegenerazione progressiva che si manifesta con disturbi psichiatrici, del sonno e oculomotori, associata ad un progressivo deterioramento cognitivo (che colpisce prevalentemente la memoria, l'orientamento temporale e/o spaziale, il linguaggio, le funzioni esecutive e l'attenzione), all'instabilità posturale e, occasionalmente, ad altre anomalie motorie e all'iperattività del sistema autonomo. Molti pazienti presentano ipometabolismo talamico bilaterale (evidente alla PET con FDG) e attività della proteina prionica nel liquido cerebrospinale. La malattia è letale nell'arco di due-tre anni."},"nl":{"name":"Sporadische fatale insomnie","definition":"Een zeldzame sporadische humane prionziekte, gekarakteriseerd door aanvang in de volwassenheid van progressieve neurodegeneratie die zich presenteert als een combinatie van psychiatrische, slaap-, en oculomotorische stoornissen, met ontwikkeling van progressieve cognitieve functiestoornis (met vooral aantasting van geheugen, temporele en/of ruimtelijke oriëntatie, taal, executieve functies, en aandacht), posturale instabiliteit, en soms bijkomende motorische afwijkingen en autonome hyperactiviteit, tijdens het verloop van de ziekte. Bilateraal hypometabolisme van thalamus bij beeldvorming met FDG-PET en positieve prion-zaaiactiviteit in cerebrospinaal vocht zijn in vele gevallen aanwezig. De ziekte is doorgaans is fataal binnen twee tot drie jaar."},"pt":{"name":"Insónia fatal esporádica"},"pl":{"name":"Sporadyczna śmiertelna bezsenność"},"cs":{"name":"Sporadická fatální nespavost"},"uk":{"name":"Спорадичне фатальне безсоння","definition":"A rare sporadic human prion disease characterized by adult onset of progredient neurodegeneration presenting as a combination of psychiatric, sleep, and oculomotor disturbances, with development of progressive cognitive impairment (the predominantly affected cognitive domains being memory, temporal and/or spatial orientation, language, executive functions, and attention), postural instability, and sometimes additional motor abnormalities and autonomic hyperactivity, in the course of the disease. Bilateral thalamic hypometabolism on FDG-PET imaging and positive prion seeding activity in the cerebrospinal fluid are present in many cases. The disease is fatal within typically two to three years."},"zh":{"name":"Sporadic fatal insomnia"},"tr":{"name":"Sporadic fatal insomnia"}},"xrefs":[{"source":"ICD-10","code":"A81.9","qualifier":"NTBT","icd_relation":"attributed","validated":true},{"source":"ICD-11","code":"6D85.5","qualifier":"NTBT","icd_relation":"index","validated":true,"icd11_uri":"2144182249"},{"source":"MONDO","code":"0035614","qualifier":"E","icd_relation":null,"validated":true},{"source":"UMLS","code":"C5567889","qualifier":"E","icd_relation":null,"validated":true}],"associations":[],"incoming_associations":[],"preferential_parent":{"orpha":98006,"name":"Rare neurologic disease"},"parents":[{"orpha":576356,"name":"Sporadic human prion disease","classifications":[181]}],"children":[],"genes":[],"genes_via_subtypes":[],"inheritance":["Not applicable"],"onset":["Adult","Elderly"],"prevalence":[{"type":"Cases/families","qualification":"Case(s)","class":null,"value":27.0,"area":"Worldwide","status":"Validated","source":"30048013[PMID]"},{"type":"Point prevalence","qualification":"Class only","class":"<1 / 1 000 000","value":0.0,"area":"Worldwide","status":"Validated","source":"30048013[PMID]"}],"phenotypes":null}