Understanding Creutzfeldt-Jakob Disease (CJD)

A Comprehensive Guide to Rare Prion Disease

Neurology

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Last updated: Mar 24, 2025

What is CJD?

Creutzfeldt-Jakob Disease is a rare, degenerative brain disorder caused by abnormal proteins called prions. It belongs to a family of human and animal diseases known as transmissible spongiform encephalopathies (TSEs).

Types of CJD

  • Sporadic CJD (sCJD)
    • Most common form (85-90% of cases)
    • Occurs spontaneously with no known trigger
  • Familial CJD (fCJD)
    • Inherited genetic mutation
    • Accounts for 10-15% of cases
  • Acquired CJD
    • Variant CJD (vCJD) - linked to consuming BSE-infected beef
    • Iatrogenic CJD - from medical procedures

Symptoms

Early Signs:

  • Rapid cognitive decline
  • Memory problems
  • Personality changes
  • Vision problems
  • Depression

Progressive Symptoms:

  • Involuntary movements
  • Blindness
  • Weakness
  • Coma

Diagnosis

Diagnosis involves multiple tests:

  1. Neurological examination
  2. MRI brain scans
  3. EEG monitoring
  4. Spinal fluid tests
  5. Genetic testing (for familial cases)

Treatment & Management

  • No cure currently exists
  • Treatment focuses on symptom management
  • Supportive care to maintain quality of life
  • Family support and counseling

Prognosis

CJD typically progresses rapidly:

  • Average survival: 1 year after symptom onset
  • Some patients may survive longer

Prevention

Preventive measures include:

  • Strict medical instrument sterilization
  • Screening of donated blood
  • Food safety regulations
  • Genetic counseling for at-risk families

Support Resources

  • National CJD organizations
  • Support groups for families
  • Specialized medical centers
  • Palliative care services

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