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fatal familial insomnia

s the result of one mutant gene yielding one mutant protein, yet causes many physical abnormalities such as skin blotches, lack of tears, etc.In the case study of an Italian family where of 288 relatives over 6 generations, 29 are affected by the disorder. The average age of onset of the disease is 49, but this may vary with the individual as with one female who was 61 years of age. Her disease lasted 18 months and followed the following pattern of the disease. There are four stages of the disease before an individual's life ends. The first stage is progressive insomnia, the trade mark of fatal familial insomnia. The first stage develops over approximately four months and includes a collection of psychiatric problems such as panic attacks and bizarre phobias. The second stage includes hallucinations, panic, agitation and sweating and lasts about five months. The third stage lasts about three months and is total insomnia with weight loss. The individual at this point looks much older and may experience incontinence. The fourth stage is around six months long and is recognized as dementia, total insomnia and sudden death after becoming mute.This disease does not show until or past child bearing years when potentially affected individuals may have already had children that may also be potentially affected. Because of this fact, modern biotechnology must be employed for early diagnosis. Techniques such as DNA sequencing or molecular hybridization with a probe which seeks to detect the defective gene may be used for early diagnosis.As for the treatment of this disease, hope may be found in the advancement of something called gene therapy. This treatment involves the insertion of the correct gene into an affected individual altering his/her gene expression making it what it should be for the expression of the correct protein. In order for this to happen, early diagnosis of an individual must be accomplished, possibly by the mentioned biotechn...

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