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Creutzfeldt-Jakob Disease (CJD)


Creutzfeldt-Jakob disease (CJD) is a rare, degenerative, invariably fatal brain disorder that falls under the dementia category. It affects about one in every one million people per-year worldwide and in the United States there are about 200 cases per-year.
CJD usually appears in later life and runs a rapid course. Typically, onset of symptoms occurs at around age 60, and about 90 percent of individuals die within one year. In the early stages of disease, people may have failing memory, behavioral changes, lack of coordination, and visual disturbances. As the illness progresses, mental deterioration becomes pronounced and involuntary movements, blindness, weakness of extremities, and coma may occur. There are three major categories of Creutzfeldt-Jakob disease.

The Three Major Categories of CJD are:
  • Sporadic CJD: The disease appears even though the person has no known risk factors for the disease. This is by far the most common type of CJD and accounts for at least 85 percent of cases.

  • Hereditary CJD: The person has a family history of the disease and/or tests positive for a genetic mutation associated with CJD. About 5 to 10 percent of cases of CJD in the United States are hereditary.

  • Variant CJD: The disease is transmitted by exposure to brain or nervous system tissue, usually through certain medical procedures. There is no evidence that CJD is contagious through casual contact with a CJD patient. Since CJD was first described in 1920, fewer than 1 percent of cases have been acquired CJD.

CJD belongs to a family of human and animal diseases known as the transmissible spongiform encephalopathies (TSEs). Spongiform refers to the characteristic appearance of infected brains, which become filled with holes until they resemble sponges under a microscope.

CJD is the most common of the known human TSEs. Other human TSEs include kuru, fatal familial insomnia (FFI), and Gerstmann-Straussler-Scheinker disease (GSS). Kuru was identified in people of an isolated tribe in Papua New Guinea and has now almost disappeared. FFI and GSS are extremely rare hereditary diseases, found in just a few families around the world.

Other TSEs are found in specific kinds of animals. These include bovine spongiform encephalopathy (BSE), which is found in cows and is often referred to as "mad cow" disease; scrapie, which affects sheep and goats; mink encephalopathy; and feline encephalopathy. Similar diseases have occurred in elk, deer, and exotic zoo animals.


Symptoms of Creutzfeldt-Jakob disease:

Specific Creutzfeldt-Jakob disease symptoms experienced by an individual and the order in which they appear can differ significantly.

Some common symptoms CJD include:
  • Depression
  • Agitation, apathy and mood swings
  • Rapidly worsening confusion, disorientation, and problems with memory, thinking, planning and judgment
  • Difficulty walking
  • Muscle stiffness, twitches and involuntary jerky movements

As the disease progresses, mental symptoms worsen. Most people eventually lapse into a coma. Heart failure, respiratory failure, pneumonia or other infections are generally the cause of death. The disease usually runs its course in about seven months, although a few people may live up to one or two years after diagnosis.


Diagnosis of CJD:

Rapid symptom progression is one of the most important clues that a person may have Creutzfeldt-Jakob disease. There is no single test, or any combination of tests, that can conclusively diagnose sporadic CJD in a living person.

The following tests may help determine whether an individual has CJD:
  • Electroencephalogram (EEG) measures the brain's patterns of electrical activity similar to the way an electrocardiogram (ECG) measures the heart's electrical activity.

  • Brain magnetic resonance imaging (MRI) can detect certain brain changes consistent with CJD.
    Lumbar puncture (spinal tap) tests spinal fluid for the presence of certain proteins.

Treatment for CJD:

Currently, there is no treatment for Creutzfeldt-Jakob disease. For now, doctors focus on pain management and family support. More research needs to be done on this rare disease.



Works Cited:
  1. Creutzfeldt-Jakob disease. A.M.A.D. Medical Encyclopedia. n.d. Web. 30 January 2013.



 

 
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