Creutzfeldt Jacob disease sporadic Creutzfeldt-Jakob disease https://github.com/monarch-initiative/mondo/issues/9274 https://www.malacards.org/card/sporadic_creutzfeldt_jakob_disease sporadic CJD ICD9:046.19 NANDO:1200187 UMLS:C1852467 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. MONDO:0016079 MedDRA:10011384 GARD:0006956 Orphanet:204 icd11.foundation:1553463690 SCTID:713060000 MEDGEN:377682