Orphanet: Inherited Creutzfeldt Jakob disease

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Inherited Creutzfeldt-Jakob disease

Disease definition

Inherited or familial Creutzfeldt-Jakob disease (fCJD) is a very rare form of genetic prion disease (see this term) characterized by typical CJD features (rapidly progressive dementia, personality/behavioral changes, psychiatric disorders, myoclonus, and ataxia) with a genetic cause and sometimes a family history of dementia.


Classification level: Disorder
  • Synonym(s):
    • Inherited CJD
  • Prevalence: <1 / 1 000 000
  • Inheritance: Autosomal dominant 
  • Age of onset: Adult, Elderly
  • ICD-10: A81.0
  • OMIM: 123400
  • UMLS: -
  • MeSH: -
  • GARD: -
  • MedDRA: -

Detailed information

Article for general public


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