Definition:
Fatal familial insomnia is a very rare and deadly disease that affects the central nervous system. It results to ‘spongiform degeneration' of the neurons inside the brain. It is characterized by extended incubation period, and it can be inherited, sporadic, or result from the intake of some contaminated food.
Diagnosis:
Diagnosis is based on genetic screening and tests, as well as history.
Treatment:
There has been no known cure for the disease. Hope rests on the continuing gene therapy, which has been unsuccessful so far. Sleeping pills give negative effects, typically bringing come faster. While it's presently impossible to reverse underlying illness, there's some proof that treatment methods focusing on symptoms may better quality of life.
Symptoms and Signs:
The disease's general symptoms include severe reduction of sleeping, acute restlessness, changes in automatic functions, dementia, and motor signs include disarthria, ataxia, and myoclonus. Symptoms can develop in stages and show progressive insomnia, bizarre phobias, panic attacks, hallucinations, intense perspirations, agitation, weight loss, muteness, and sudden death.
Causes:
An infectious agent called Proteinaceous Infectious Particle or PrP causes the disease. PrP is an abnormal isoform of normal ‘prion protein' that all humans possess. A single PrP is enough to cause transformation of the normal prion proteins, and the chain reaction explains the gradual incubation period. PrP causes ‘apoptosis' in the neural cells.
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