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Sporadic Fatal Insomnia

genetic mutation

John Trombley

on 6 May 2010

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Transcript of Sporadic Fatal Insomnia

Fatal Familial Insomnia Stages

1. The patient suffers increasing insomnia, resulting in panic attacks, paranoia, and phobias. This stage lasts for about four months.
2.Hallucinations and panic attacks become noticeable, continuing for about five months. 3.Complete inability to sleep is followed by rapid loss of weight. This lasts for about three months. 4.Dementia, during which the patient becomes unresponsive or mute over the course of six months. This is the final progression of the disease, and the patient will subsequently die. Treatment There is no cure or treatment for FFI. Gene therapy is so far unsuccessful. While it is not currently possible to reverse the underlying illness, there is some evidence that treatments that focus upon the symptoms can improve quality of life. Presentation The age of onset is variable, ranging from 30 to 60, with an average of 50. However the disease tends to prominently occur in later years, primarily following childbirth. Death usually occurs between 7 and 36 months from onset. The presentation of the disease varies considerably from person to person, even among patients from within the same family.

The disease has four stages, taking 7 to 18 months to run its course Related conditions
There are other diseases involving the mammalian prion. Some are transmissible such as kuru, bovine spongiform encephalopathy , and chronic wasting disease in American deer and American elk in some areas of the United States and Canada, as well as Creutzfeldt-Jakob disease . These are generally not considered to be transmissible except by direct contact with infected tissue, such as from eating infected tissue, transfusion or transplantation.

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