Creutzfeldt-Jakob disease (CJD) is a rare, degenerative, invariably fatal brain disorder. It affects about one person in every one million people per year worldwide; in the United States there are about 200 cases per year.

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CJD usually appears in later life and runs a rapid course. Typically, onset of symptoms occurs about age 60, and about 90 percent of individuals die within 1 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. In 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. In 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. In acquired CJD, the disease is transmitted by exposure to brain or nervous system tissue, usually through certain medical procedures.

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    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).
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    Spongiform refers to the characteristic appearance of infected brains, which become filled with holes until they resemble sponges under a microscope.
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    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.
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    Similar diseases have occurred in elk, deer, and exotic zoo animals.
    What are the Symptoms of the Disease? CJD is characterized by rapidly progressive dementia. Initially, individuals experience problems with muscular coordination; personality changes, including impaired memory, judgment, and thinking; and impaired vision.
    People with the disease also may experience insomnia, depression, or unusual sensations. CJD does not cause a fever or other flu-like symptoms.

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    As the illness progresses, mental impairment becomes severe.
    Individuals often develop involuntary muscle jerks called myoclonus, and they may go blind.
    They eventually lose the ability to move and speak and enter a coma. Pneumonia and other infections often occur in these individuals and can lead to death.
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    There are several known variants of CJD. These variants differ somewhat in the symptoms and course of the disease.
    For example, a variant form of the disease-called new variant or variant (nv-CJD, v-CJD), described in Great Britain and France-begins primarily with psychiatric symptoms, affects younger individuals than other types of CJD, and has a longer than usual duration from onset of symptoms to death.
    Another variant, called the panencephalopathic form, occurs primarily in Japan and has a relatively long course, with symptoms often progressing for several years.