DISEASE SCANNER

Global Incurable Diseases Tracker

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Neurological Disease

Creutzfeldt-Jakob Disease (CJD)

HIGH SEVERITY

A rare, fatal prion disease causing rapidly progressive dementia. Sporadic CJD (85% of cases), genetic (10-15%), and acquired/variant (<1%). Caused by misfolded prion protein (PrP^Sc) leading to spongiform changes in brain. Always fatal within months.

Global Affected

2.0K

Countries

15

Symptoms

Rapidly progressive dementia
Myoclonus
Visual disturbances
Ataxia
Speech difficulties
Akinetic mutism
Death within months

Treatment Options

Medications
Physical therapy
Occupational therapy
Speech therapy
Surgical interventions
Deep brain stimulation
Rehabilitation
Supportive care

Risk Factors

1Age
2Family history
3Genetic mutations
4Head trauma
5Vascular disease
6Environmental exposures
7Infections
8Autoimmune disease

Diagnostic Methods

  • 1Neurological examination
  • 2MRI/CT imaging
  • 3EEG
  • 4EMG/NCV
  • 5Lumbar puncture
  • 6Genetic testing
  • 7Neuropsychological testing

Prognosis

Rapidly progressive and universally fatal. Sporadic CJD: median survival 4-5 months, 90% die within 1 year. Variant CJD (from BSE): slower progression, median 14 months. Genetic forms vary by mutation. No curative treatment exists; management is supportive. Early diagnosis allows family counseling and prevents iatrogenic transmission. Autosomal dominant genetic forms have 50% transmission risk to offspring.

Prevention

  • Head protection
  • Cardiovascular health
  • Cognitive stimulation
  • Physical exercise
  • Healthy diet
  • Avoidance of toxins
  • Regular monitoring

Research Status

No effective treatment. Supportive care only. Antimalarials (quinacrine) and doxycycline ineffective in trials. RT-QuIC diagnostic test highly sensitive. Research focused on early detection and preventing transmission.

Sources

  • https://www.ncbi.nlm.nih.gov/books/NBK539800
  • https://www.ncbi.nlm.nih.gov/books
  • https://www.mayoclinic.org/diseases-conditions
  • https://rarediseases.org/rare-diseases

Medical Disclaimer

This information is for educational purposes only. Always consult healthcare professionals for medical advice, diagnosis, and treatment.