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Start free with EleplanInherited Creutzfeldt-Jakob disease
ORPHA:282166Disease
Also called Inherited CJD
What it is
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.
Key facts
- Prevalence
- <1 / 1 000 000 (Europe)
- Age of onset
- Adult, Elderly
- Inheritance
- Autosomal dominant
- Classified as
- Disease
Prevalence figures describe populations, not individuals, and are often estimates from a single study. Where the figure is an incidence or a birth prevalence, it says so.
Signs and symptoms
Common30–79%
42- Abnormal autonomic nervous system physiology
- Abnormality of visionDiagnostic criterion
- Abnormal pyramidal signDiagnostic criterion
- Akinetic mutismDiagnostic criterion
- Anxiety
- Apathy
- Astrocytosis
- Babinski sign
- Bradykinesia
- Central nervous system degeneration
- Clumsiness
- Confusion
- DementiaDiagnostic criterion
- Depression
- Diffuse spongiform leukoencephalopathy
- EEG with persistent abnormal rhythmic activityDiagnostic criterion
- Emotional lability
- Focal T2 hyperintense basal ganglia lesionDiagnostic criterion
- Gait ataxia
- Global brain atrophy
- Hypersomnia
- Insomnia
- Irritability
- Loss of facial expression
- Muscle weakness
- MyoclonusDiagnostic criterion
- Neuronal loss in central nervous system
- Nystagmus
- Personality changes
- Poor visual behavior for age
- Progressive cerebellar ataxiaDiagnostic criterion
- Progressive extrapyramidal muscular rigidityDiagnostic criterion
- Progressive forgetfulness
- Seizure
- Senile plaques
- Short attention span
- Slurred speech
- Spastic dysarthria
- Spastic hemiparesis
- Stroke-like episode
- Supranuclear gaze palsy
- Tremor
These ranges are how often a sign appears across everyone diagnosed, not a prediction for one person — most people have some of these and not others. Orphanet also records findings that are specifically absent in this disease; those are in the data but not listed here.
Gene
ICD-10 codes
ICD-10 has no distinct code for most rare diseases, so many are filed under the nearest available one. A shared code identifies the group, not this disease — the ORPHAcode above is what identifies it.
Related health topics
Reached through the ICD-10 categories this disease is filed under, so these describe the broader group rather than this disease specifically.
Cross-references
Orphadata Science: Free access data from Orphanet. © INSERM 1999. Data version 2026-06-23. Available under CC BY 4.0. This is a reference, not medical advice.
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