{"orpha":576379,"name":"Iatrogenic Creutzfeldt-Jakob disease","type":"Disease","group":"Disorder","status":"active","flags":[],"synonyms":["Iatrogenic MCJ","iCJD"],"definition":"A rare acquired human prion disease characterized by progressive, invariably fatal neurodegeneration resulting from accidental transmission of CJD prions in the course of medical procedures or treatments (treatment with human pituitary growth hormone or gonadotrophin, human dura mater or corneal graft, exposure to contaminated neurosurgical instruments). Patients present rapidly progressive cognitive impairment, as well as myoclonus, visual or cerebellar problems, pyramidal or extrapyramidal features, and/or akinetic mutism. EEG examination may show characteristic generalized periodic sharp wave complexes. Neuropathologic analysis reveals spongiform change, neuronal loss and gliosis, and deposition of abnormal prion protein.","note":null,"url":"https://raremap.alftech.space/d/ORPHA-576379/","orphanet_url":"https://www.orpha.net/en/disease/detail/576379","names":{"fr":{"name":"Maladie de Creutzfeldt-Jakob iatrogène","synonyms":["MCJ iatrogène","i-MCJ"],"definition":"Maladie à prion humaine acquise rare caractérisée par une neurodégénérescence progressive, systématiquement létale, résultant d'une transmission accidentelle de prions de la maladie de Creutzfeldt-Jakob (MCJ) au cours d'actes ou de traitements médicaux (traitement par hormone de croissance ou gonadotrophine hypophysaire humaine, greffe de dure-mère ou de cornée humaine, exposition à des instruments neurochirurgicaux contaminés). Les patients présentent des troubles cognitifs rapidement progressifs, ainsi que des myoclonies, des troubles visuels ou cérébelleux, des signes d'atteinte pyramidale ou extrapyramidale, et/ou un mutisme akinétique. Des complexes périodiques de pointes-ondes généralisées caractéristiques sont identifiés par EEG. L'analyse neuropathologique révèle un changement spongiforme, une perte neuronale et une gliose, ainsi qu'un dépôt d'une protéine prion anormale."},"de":{"name":"Creutzfeldt-Jakob-Krankheit, iatrogene","synonyms":["Iatrogene CJD","iCJD"],"definition":"Eine seltene erworbene menschliche Prionkrankheit, die durch eine fortschreitende, ausnahmslos tödliche Neurodegeneration gekennzeichnet ist, die auf eine versehentliche Übertragung von CJD-Prionen im Rahmen medizinischer Verfahren oder Behandlungen (Behandlung mit menschlichem hypophysärem Wachstumshormon oder Gonadotropin, menschlicher Dura mater oder Hornhauttransplantat, Kontakt mit kontaminierten neurochirurgischen Instrumenten) zurückzuführen ist. Die Patienten zeigen rasch fortschreitende kognitive Beeinträchtigungen sowie Myoklonus, Seh- oder Kleinhirnprobleme, pyramidale oder extrapyramidale Merkmale und/oder akinetischen Mutismus. Die EEG-Untersuchung kann charakteristische generalisierte periodische scharfe Wellenkomplexe zeigen. Die neuropathologische Analyse zeigt spongiforme Veränderungen, neuronalen Verlust und Gliose sowie Ablagerungen von abnormalem Prionprotein."},"es":{"name":"Enfermedad de Creutzfeldt–Jakob iatrogénica","synonyms":["iCJD"],"definition":"Es una enfermedad priónica humana, adquirida y poco frecuente, caracterizada por neurodegeneración progresiva e invariablemente letal, a consecuencia de la transmisión accidental de priones de la ECJ en el curso de procedimientos o tratamientos médicos (tratamiento con hormona de crecimiento hipofisaria de origen humano o con gonadotropina, injerto de córnea o de duramadre humanas, exposición a instrumentos neuroquirúrgicos contaminados). Los pacientes se presentan con un deterioro cognitivo rápidamente progresivo, así como con mioclonías, problemas visuales o cerebelosos, signos piramidales o extrapiramidales y/o mutismo acinético. El examen EEG puede mostrar complejos característicos de ondas agudas periódicas generalizadas. El análisis neuropatológico revela cambios espongiformes, pérdida neuronal y gliosis, y depósitos de proteína priónica anómala."},"it":{"name":"Malattia iatrogena di Creutzfeldt-Jakob","synonyms":["MCJ iatrogena","iCJD"],"definition":"Si tratta di una malattia umana rara acquisita da prioni, caratterizzata da neurodegenerazione progressiva, sempre letale, causata dalla trasmissione accidentale dei prioni della MCJ (malattia di Creutzfeldt-Jakob) nel corso di procedure o trattamenti medici (trattamento con l'ormone della crescita ipofisario o la gonadotropina umana, trapianto di dura madre o cornea umane, esposizione a strumenti neurochirurgici contaminati). I pazienti presentano un deterioramento cognitivo a progressione rapida, mioclonie, deficit visivi o cerebellari, sintomi piramidali o extrapiramidali e/o mutismo acinetico. L'EEG evidenzia i caratteristici complessi periodici di punte-onde generalizzati. L'analisi neuropatologica evidenzia alterazioni spongiformi, perdita dei neuroni, gliosi, e accumuli di proteine prioniche anomale."},"nl":{"name":"Iatrogene ziekte van Creutzfeldt-Jakob","synonyms":["Iatrogene CJD","iCJD"],"definition":"Een zeldzame, verworven humane prionziekte, gekenmerkt door progressieve, altijd fatale neurodegeneratie als gevolg van accidentele transmissie van CJD-prionen tijdens medische verrichtingen of behandelingen (behandeling met humaan groeihormoon uit hypofyse of gonadotropine, transplantaat van humane dura mater of cornea, blootstelling aan gecontamineerde neurochirurgische instrumenten). Patiënten vertonen snel progressieve cognitieve functiestoornis, alsook myoclonus, visuele of cerebellaire problemen, piramidale of extrapiramidale kenmerken, en/of akinetisch mutisme. EEG-onderzoek toont mogelijk kenmerkende gegeneraliseerde periodieke scherpe golfcomplexen. Neuropathologische analyse toont spongiforme verandering, verlies van neuronen en gliose, en depositie van abnormaal prionproteïne."},"pt":{"name":"Doença Creutzfeldt-Jakob iatrogénica"},"pl":{"name":"Choroba Creutzfeldta i Jakoba jatrogenna","synonyms":["Iatrogenic MCJ","iCJD"]},"cs":{"name":"Iatrogenní Creutzfeldtova-Jakobova nemoc","synonyms":["Iatrogenní Creutzfeldt-Jakobova nemoc"]},"uk":{"name":"Ятрогенна хвороба Крейтцфельдта-Якоба","synonyms":["Ятрогенний MCJ","iCJD"],"definition":"A rare acquired human prion disease characterized by progressive, invariably fatal neurodegeneration resulting from accidental transmission of CJD prions in the course of medical procedures or treatments (treatment with human pituitary growth hormone or gonadotrophin, human dura mater or corneal graft, exposure to contaminated neurosurgical instruments). Patients present rapidly progressive cognitive impairment, as well as myoclonus, visual or cerebellar problems, pyramidal or extrapyramidal features, and/or akinetic mutism. EEG examination may show characteristic generalized periodic sharp wave complexes. Neuropathologic analysis reveals spongiform change, neuronal loss and gliosis, and deposition of abnormal prion protein."},"zh":{"name":"医源性克罗伊茨费尔特-雅各布病","synonyms":["医源性MCJ"]},"tr":{"name":"İatrojenik Creutzfeldt-Jakob hastalığı","synonyms":["iCJD","İyatrojenik MCJ"]}},"xrefs":[{"source":"ICD-10","code":"A81.0","qualifier":"NTBT","icd_relation":"specific","validated":true},{"source":"ICD-11","code":"8E01.0","qualifier":"E","icd_relation":"specific","validated":true,"icd11_uri":"437591130"},{"source":"MONDO","code":"0034976","qualifier":"E","icd_relation":null,"validated":true},{"source":"UMLS","code":"C2349757","qualifier":"E","icd_relation":null,"validated":true}],"associations":[],"incoming_associations":[],"preferential_parent":{"orpha":98006,"name":"Rare neurologic disease"},"parents":[{"orpha":454700,"name":"Acquired Creutzfeldt-Jakob disease","classifications":[181]}],"children":[],"genes":[],"genes_via_subtypes":[],"inheritance":["Not applicable"],"onset":["Adult"],"prevalence":[{"type":"Cases/families","qualification":"Case(s)","class":null,"value":516.0,"area":"Worldwide","status":"Validated","source":"ORPHANET"},{"type":"Point prevalence","qualification":"Class only","class":"<1 / 1 000 000","value":0.0,"area":"Worldwide","status":"Validated","source":"ORPHANET"}],"phenotypes":null}