Creutzfeldt-Jakob Disease: Diagnosis & Treatment

Creutzfeldt-Jakob (CJD) is an extremely rare neurodegenerative disease that has been noted, in affecting 1of every 1 million individuals, with 300 cases being noted within the United States (CDC). Individuals over the age of 60 are at a higher risk, which is most likely due to decreased immunity. It is characterized by rapid, gradual dementia.

Types

CJD is ranked in three different classes.

  • Sporadic is a random type of CJD, since the symptoms will appear for no reason. This is the most common form of CJD.
  • Hereditary CJD is diagnosed, when family heredity has been proven.
  • Acquired is most often caused by a nosocomial infection through surgery or other medical procedures.

Transmissible Spongiform Encephalopathy

CJD is classed, as a TSE, which is a group of human and animal diseases. This disease should not be mistaken as “Mad Cow”, which is a bovine spongiform encephalopathy (BSE) disease. The brain will appear like a holey-sponge, when viewed under a microscope.

Symptoms

The onset of symptoms will appear and progress in a very rapid form.

  • Impaired Memory Function
  • Impaired Vision
  • Loss of Balance and Coordination

As the disease progresses other symptoms will appear including:

  • Myoclonus (Muscle Jerking)
  • Blindness
  • Aphasia (Inability to Speak)
  • Dementia
  • Loss of Muscle Control and Movement
  • Coma

Secondary infections will also be noted including pneumonia.

Etiology

CJD is caused by prions, which are infectious proteins. Normal prion proteins are found in most human cells, but are noted in a higher level in the brain and neurons. A malformed, infected prion protein may be linked to CJD. The abnormal prions will clump together, which lead to the death of neurons, then brain damage.

Mode of Transmission

Direct contact with infected cerebral spinal fluid, which most often occurs as a nosocomial infection. Contaminated blood may also be linked to the transmission of CJD, but has not been proven. Consumption of infection beef has been linked to BSE, but has not fully been linked to TSE or CJD.

Diagnosis

The only reliable diagnostic tool is a brain biopsy or a postmortem autopsy. A magnetic resonance imaging and computed tomography will be order to rule out brain tumors, meningitis, and CVAs (stroke).

A lumbar puncture or spinal tap may be ordered, so the cerebral spinal fluid can be tested for presence of 14-3-3 protein.

An electroencephalogram (EEG) may be ordered to detect abnormal electrical brain activity.

Treatment

There is no current treatment or cure for CJD. Of course, medications may be prescribed to treat some of the symptoms.

  • Antibiotics (Infections)
  • Interferon (Prevent Melanomas and Sarcomas)
  • Steroids (Reduce Inflammations)
  • Antiviral Agents
  • Muscle Relaxants

In the later stages of the disease, a full time caregiver, urinary catheter, and nutritional support (gastrostomy tube), and physical therapy to prevent contractures.

Death is inevitable, within a year of onset of symptoms.