Fatal familial insomnia is a rare prion disease that interferes with sleep and leads to deterioration of mental and motor functions. Death comes about within a few months to a few years.
Fatal insomnia has an inherited or familial form, called fatal familial insomnia, due to a specific mutation in the PrPc gene.
This disease can also occur spontaneously, without a genetic mutation.
Such a form is called sporadic fatal insomnia. Sporadic fatal insomnia and fatal familial insomnia differ from other prion diseases because they affect predominantly one area of the brain, the thalamus, which influences sleep.
The disease generally begins between the ages of 40 and 60 but may begin in a person's late 30s. In the beginning, people may have minor difficulties falling asleep and occasional muscle twitching, spasms, and stiffness.
Finally, they cannot sleep. Occasionally, the signs are difficult to detect. Other changes: a rapid heart rate and dementia.
Usually death occurs about 7 to 36 months after symptoms begin.
The diagnosis is concluded by typical symptoms and a family history of the disease and can be confirmed by genetic testing. There is no treatment available.
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