{"orpha":204,"name":"Sporadic Creutzfeldt-Jakob disease","type":"Disease","group":"Disorder","status":"active","flags":[],"synonyms":["Sporadic CJD"],"definition":"A rare sporadic human prion disease characterized by rapidly progressive cognitive impairment in combination with variable neurologic signs and symptoms including myoclonus, visual or cerebellar problems, pyramidal or extrapyramidal features, or akinetic mutism. Brain imaging may show high signal intensity in caudate, putamen, and/or cortical regions, and a typical EEG pattern consisting of generalized periodic sharp wave complexes is observed in many cases. The disease is invariably fatal within less than two years. Neuropathologic examination reveals deposition of abnormal prion protein in brain tissue, as well as spongiform change and massive neuronal loss and gliosis.","note":null,"url":"https://raremap.alftech.space/d/ORPHA-204/","orphanet_url":"https://www.orpha.net/en/disease/detail/204","names":{"fr":{"name":"Maladie de Creutzfeldt-Jakob sporadique","synonyms":["MCJ sporadique"],"definition":"Maladie à prion humaine sporadique caractérisée par une déficience intellectuelle progressive associée à des signes et des symptômes neurologiques variables, notamment une myoclonie, des troubles visuels ou cérébelleux, des signes d'atteinte pyramidale ou extrapyramidale ou un mutisme akinétique. L'imagerie cérébrale peut mettre en évidence une intensité élevée de signal dans les régions du noyau caudé, du putamen et/ou de la région corticale, et, dans de nombreux cas, un schéma EEG typique consistant en des bouffées de polypointes-ondes généralisées. La maladie est invariablement létale, le décès survenant en moins de deux ans. La neuropathologie du tissu cérébral révèle des dépôts anormaux de protéine prion, ainsi qu'une modification spongiforme, une perte neuronale massive et une gliose."},"de":{"name":"Creutzfeldt-Jakob-Krankheit, sporadische","synonyms":["Sporadische CJD"],"definition":"Eine sporadisch auftretende Prionkrankheit des Menschen, die durch eine rasch fortschreitende kognitive Beeinträchtigung in Verbindung mit variablen neurologischen Zeichen und Symptomen wie Myoklonus, Seh- oder Kleinhirnproblemen, pyramidalen oder extrapyramidalen Merkmalen oder akinetischem Mutismus gekennzeichnet ist. Die zerebrale Bildgebung kann hohe Signalintensitäten in Caudatus-, Putamen- und/oder kortikalen Regionen zeigen, und in vielen Fällen wird ein typisches EEG-Muster beobachtet, das aus generalisierten periodischen scharfen Wellenkomplexen besteht. Die Krankheit verläuft in der Regel in weniger als zwei Jahren tödlich. Die neuropathologische Untersuchung zeigt Ablagerungen von abnormalem Prionprotein im Hirngewebe sowie spongiforme Veränderungen, massiven Neuronenverlust und Gliose."},"es":{"name":"Enfermedad de Creutzfeldt-Jakob esporádica","synonyms":["ECJ esporádica"],"definition":"Es una enfermedad priónica humana esporádica y poco frecuente que se caracteriza por un declive cognitivo rápidamente progresivo en combinación con signos y síntomas neurológicos variables que incluyen mioclonías, problemas visuales o cerebelosos, rasgos piramidales o extrapiramidales, o mutismo acinético. La neuroimagen puede mostrar una intensidad de señal elevada en el núcleo caudado, en el putamen y/o en las regiones corticales, y en muchos casos se observa un patrón de EEG típico consistente en complejos de ondas agudas periódicas generalizadas. La enfermedad es invariablemente mortal en menos de dos años. El examen neuropatológico revela la deposición de proteína priónica anómala en el tejido cerebral, así como cambios espongiformes y pérdida neuronal masiva y gliosis."},"it":{"name":"Malattia di Creutzfeldt-Jakob sporadica","synonyms":["CJD sporadica"],"definition":"Si tratta di una malattia umana rara sporadica da prioni, caratterizzata da deterioramento cognitivo a progressione rapida associato a segni clinici e sintomi neurologici variabili, che comprendono le mioclonie, le anomalie visive o cerebellari, i sintomi piramidali o extrapiramidali e il mutismo acinetico. Le neuroimmagini evidenziano un'elevata intensità del segnale nel nucleo caudato, nel putamen e/o nelle regioni corticali; in molti pazienti si osserva il tipico EEG costituito da complessi periodici di punte-onde generalizzati. La malattia è sempre letale entro due anni. L'esame neuropatologico evidenzia depositi di proteine prioniche anomale nel tessuto cerebrale, alterazioni spongiformi, perdita massiva di neuroni e gliosi."},"nl":{"name":"Sporadische ziekte van Creutzfeldt-Jakob","synonyms":["Sporadische CJD"],"definition":"Een zeldzame, sporadische humane prionziekte, gekenmerkt door snel progressieve cognitieve functiestoornis in combinatie met variabele neurologische verschijnselen en symptomen, waaronder myoclonus, visuele of cerebellaire problemen, piramidale of extrapiramidale kenmerken, of akinetisch mutisme. Beeldvorming van hersenen toont mogelijk signalen met hoge intensiteit in gebieden van nucleus caudatus, putamen, en/of cortex, en in vele gevallen wordt een typisch EEG-patroon bestaande uit gegeneraliseerde periodieke scherpe golfcomplexen waargenomen. De ziekte is steeds fataal na minder dan twee jaar. Neuropathologisch onderzoek toont depositie van abnormaal prionproteïne in hersenweefsel, alsook spongiforme verandering, massaal verlies van neuronen, en gliose."},"pt":{"name":"Doença de Creutzfeldt-Jakob esporádica"},"pl":{"name":"Choroba Creutzfeldta i Jakoba","synonyms":["Sporadic CJD"]},"cs":{"name":"Sporadická Creutzfeldtova-Jakobova nemoc","synonyms":["Sporadická CJD","Sporadická Creutzfeldt-Jakobova nemoc"]},"uk":{"name":"Спорадична хвороба Кройцфельда-Якоба","synonyms":["Спорадична CJD"],"definition":"A rare sporadic human prion disease characterized by rapidly progressive cognitive impairment in combination with variable neurologic signs and symptoms including myoclonus, visual or cerebellar problems, pyramidal or extrapyramidal features, or akinetic mutism. Brain imaging may show high signal intensity in caudate, putamen, and/or cortical regions, and a typical EEG pattern consisting of generalized periodic sharp wave complexes is observed in many cases. The disease is invariably fatal within less than two years. Neuropathologic examination reveals deposition of abnormal prion protein in brain tissue, as well as spongiform change and massive neuronal loss and gliosis."},"zh":{"name":"散发性克雅氏病","synonyms":["散发性克雅氏病"]},"tr":{"name":"Sporadik Creutzfeldt-Jakob hastalığı","synonyms":["Sporadik CJD"]}},"xrefs":[{"source":"OMIM","code":"123400","qualifier":"NTBT","icd_relation":null,"validated":true},{"source":"ICD-10","code":"A81.0","qualifier":"NTBT","icd_relation":"specific","validated":true},{"source":"ICD-11","code":"8E00","qualifier":"E","icd_relation":"specific","validated":true,"icd11_uri":"1553463690"},{"source":"MONDO","code":"0016079","qualifier":"E","icd_relation":null,"validated":true},{"source":"MeSH","code":"C565143","qualifier":"E","icd_relation":null,"validated":true},{"source":"UMLS","code":"C1852467","qualifier":"E","icd_relation":null,"validated":true},{"source":"GARD","code":"6956","qualifier":"E","icd_relation":null,"validated":true},{"source":"MedDRA","code":"10011384","qualifier":"E","icd_relation":null,"validated":true}],"associations":[],"incoming_associations":[],"preferential_parent":{"orpha":98006,"name":"Rare neurologic disease"},"parents":[{"orpha":306695,"name":"Miscellaneous movement disorder due to neurodegenerative disease","classifications":[181]},{"orpha":576356,"name":"Sporadic human prion disease","classifications":[181]}],"children":[],"genes":[],"genes_via_subtypes":[],"inheritance":["Not applicable"],"onset":["Adult","Elderly"],"prevalence":[{"type":"Annual incidence","qualification":"Value and class","class":"1-9 / 1 000 000","value":0.125,"area":"Australia","status":"Validated","source":"31876504[PMID]"},{"type":"Point prevalence","qualification":"Value and class","class":"<1 / 1 000 000","value":0.0937,"area":"Australia","status":"Validated","source":"31876504[PMID]"},{"type":"Annual incidence","qualification":"Value and class","class":"1-9 / 1 000 000","value":0.152,"area":"Austria","status":"Validated","source":"31876504[PMID]"},{"type":"Point prevalence","qualification":"Value and class","class":"1-9 / 1 000 000","value":0.114,"area":"Austria","status":"Validated","source":"31876504[PMID]"},{"type":"Annual incidence","qualification":"Value and class","class":"1-9 / 1 000 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spongiform changes","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0000726","label":"Dementia","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0030890","label":"Hyperintensity of cerebral white matter on MRI","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0002529","label":"Neuronal loss in central nervous system","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0002446","label":"Astrocytosis","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0001251","label":"Ataxia","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000708","label":"Atypical behavior","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0002059","label":"Cerebral atrophy","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0100543","label":"Cognitive impairment","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0001289","label":"Confusion","frequency":"Frequent 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