Symptoms
Symptoms of CJD vary but often include:
Rapidly developing dementia
Difficulty with coordination and balance (ataxia)
Muscle stiffness, twitching, and jerks (myoclonus)
Vision problems (sometimes blindness)
Difficulty speaking
Changes in personality
Anxiety
Depression
Insomnia
Causes
CJD is caused by misfolded proteins called prions. These prions cause normal prion proteins to misfold, leading to brain damage. CJD can arise in several ways:
Sporadic CJD: The most common form, occurring for unknown reasons (the prion protein spontaneously misfolds).
Familial CJD: Caused by inherited genetic mutations in the prion protein gene.
Acquired CJD: Very rare; acquired through exposure to infected brain or nervous system tissue, usually through medical procedures (e.g., contaminated surgical instruments or corneal transplants). Variant CJD (vCJD), linked to bovine spongiform encephalopathy (BSE or "mad cow disease"), is another form of acquired CJD, acquired by eating beef from BSE-infected cattle.
Medicine Used
There is currently no cure for CJD. Treatment focuses on managing symptoms and providing supportive care. Medications may be used to relieve pain and muscle jerks.
Is Communicable
CJD is not communicable through casual contact like touching, kissing, or sharing utensils. Acquired CJD can be transmitted through exposure to infected brain or nervous system tissue, which is now a rare occurrence due to stringent sterilization procedures in healthcare settings. Variant CJD (vCJD) can be transmitted by blood transfusion, but this is extremely rare.
Precautions
Standard precautions are taken in healthcare settings when handling patients with suspected or confirmed CJD to prevent the spread of prions through contaminated medical equipment. These precautions include:
Using disposable instruments whenever possible.
Strictly following sterilization procedures for reusable instruments.
Proper disposal of contaminated materials.
Avoiding contact with brain and nervous system tissue.
How long does an outbreak last?
CJD is not an outbreak-related disease. It is a rare, sporadic, inherited, or acquired disease that affects individuals. Variant CJD (vCJD) has been associated with outbreaks in the past due to the consumption of BSE-infected beef products, but these are not technically "outbreaks" of CJD itself, but of the underlying BSE in cattle.
How is it diagnosed?
Diagnosing CJD can be challenging. Diagnosis usually involves:
Neurological examination: Assessing symptoms and signs.
Electroencephalogram (EEG): Measuring brain activity, which may show characteristic patterns.
Magnetic Resonance Imaging (MRI): Brain imaging to identify brain abnormalities.
Cerebrospinal fluid (CSF) analysis: Testing CSF for specific protein markers (e.g., 14-3-3 protein, real-time quaking-induced conversion [RT-QuIC]).
Genetic testing: For familial forms of CJD.
Brain biopsy or autopsy: To confirm the diagnosis, usually performed after death.
Timeline of Symptoms
The timeline of CJD symptoms can vary, but it's typically rapidly progressive.
Early stages: Subtle memory problems, personality changes, lack of coordination.
Middle stages: Worsening dementia, myoclonus, visual disturbances, difficulty speaking and swallowing.
Late stages: Severe mental impairment, loss of physical function, coma. The disease duration is generally short, with most patients dying within a year of symptom onset.
Important Considerations
CJD is a devastating disease with no cure.
Early diagnosis can help in managing symptoms and providing supportive care.
Genetic counseling may be recommended for families with a history of familial CJD.
Research is ongoing to better understand CJD and develop potential treatments.
Variant CJD (vCJD) is linked to BSE ("mad cow disease"), emphasizing the importance of food safety measures.