Creutzfeldt-Jakob disease (CJD) is one of a group of rare and fatal brain disorders called prion diseases. It causes a form of dementia that progresses unusually fast and results in a rapid deterioration of thinking and reasoning, as well as mood changes, involuntary muscle movements, difficulty walking and confusion. “Mad cow disease” is a form of Creutzfeldt-Jakob disease that occurs in cattle and is occasionally transmitted to humans.
Experts recognize three types of CJD:
Any symptoms causing concern should be addressed with a family doctor, especially since symptoms of CJD progress quite rapidly. Symptoms include:
Disease symptom manifestation can vary widely from individual to individual.
Creutzfeldt-Jakob disease causes prion proteins to “misfold” into abnormal 3-dimensional shapes, causing a domino effect of damage to the brain. The disease also causes many sponge-like lesions to form throughout the brain.
Creutzfeldt-Jakob disease occurs in one in one million people worldwide annually, with approximately 300 of those being in the United States. Sporadic CJD has no known cause. Familial CJD increases the risk of developing the disease due to variations in the prion protein gene. Scientists have isolated more than 50 prion protein mutations associated with Familial CJD. Acquired CJD results from exposure to an external source of infectious prion protein in contaminated meat, from contaminated surgical instruments and from contaminated tissue (such as transplanted tissues or organs).
Creutzfeldt-Jakob disease is a fatal and rare brain disorder. As is the case with most dementias, CJD is difficult to diagnose. Due to its fast progression, it’s critical that a diagnosis is received as quickly as possible so steps can be taken to delay the onset of new or worsening symptoms, in essence, to prolong life. Its rapid progression is one of the most important clues that it may be CJD. The following tests may help to diagnose CJD, although, there is no one single test to conclusively diagnose the disorder:
CJD progresses rapidly and those affected eventually lose the ability to move or speak, requiring full-time care. 90% of those diagnosed with sporadic CJD live less than 12 months. Persons developing familial and acquired CJD tend to survive somewhat longer.
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