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Fatal Familial Insomnia

Fatal Familial Insomnia

Fatal familial insomnia (FFI) is a rare genetic disorder that affects the thalamus, an area of the brain responsible for controlling sleep cycles. People with FFI have an 80% chance of inheriting it from one or more parents.

In the early stages of fatal familial insomnia, people experience difficulty falling asleep and may experience muscle twitching or spasms while asleep. They may also have vivid dreams and excessive sweating.

Eventually, symptoms become more severe. The person may have trouble falling or staying asleep, develop psychiatric issues like confusion, hallucinations and more severe dementia, as well as autonomic issues like rapid heart rate or high blood pressure.

If you believe you may have fatal familial insomnia, talk to your doctor. He or she can perform a physical exam, review your medical history, and refer you to a sleep specialist. In some cases, additional tests such as sleep studies and imaging studies may also be required.

Prion proteins responsible for FFI accumulate in the thalamus, a part of the brain that regulates sleep cycles and allows different areas to communicate. Misfolded prions can irritate this region of the brain, damaging nerve cells.

Unfortunately, it’s unknown what causes this disease; however, it appears to be due to a mutation in the prion protein gene. This alters how prions are made, leading to abnormally folded proteins accumulating in your brain.

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