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Inherited Creutzfeldt-Jakob disease

Disease definition

A rare form of genetic prion disease 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.

ORPHA:282166

Classification level: Disorder
  • Synonym(s):
    • Inherited CJD
  • Prevalence: <1 / 1 000 000
  • Inheritance: Autosomal dominant 
  • Age of onset: Adult, Elderly
  • ICD-10: A81.0
  • ICD-11: 8E02.0
  • OMIM: 123400
  • UMLS: C0751254
  • MeSH: -
  • GARD: -
  • MedDRA: -

  A summary on this disease is available in Español (2015) Italiano (2015) Nederlands (2015)

Detailed information

General public

Disease review articles

ERN produced/endorsed by ERN(s)   FSMR produced/endorsed by FSMR(s)

Additional information

Further information on this disease

Patient-centred resources for this disease

Research activities on this disease

Specialised Social Services

The documents contained in this web site are presented for information purposes only. The material is in no way intended to replace professional medical care by a qualified specialist and should not be used as a basis for diagnosis or treatment.