What are the symptoms of fatal familial insomnia?
Symptoms of fatal familial insomnia include:
- Difficulty sleeping that gets worse over time (progressive insomnia).
- Nervous system overactivity including high blood pressure, a faster-than-normal heart rate and anxiety.
- Memory loss.
- Hallucinations or seeing or thinking that something’s there when it isn’t.
- Involuntary muscle twitching or jerking (myoclonus).
Symptoms of fatal familial insomnia (FFI) begin between the ages of 20 and 70. The average onset of symptoms is age 40.
Early symptoms of FFI can look similar to those of dementia and Alzheimer’s disease. If you experience symptoms, visit a healthcare provider to receive an accurate diagnosis. As the condition indicates in the name, symptoms can be life-threatening.
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What causes fatal familial insomnia?
A mutation or change of the PRNP gene causes fatal familial insomnia (FFI). The PRNP gene is responsible for making the prion protein PrPC. Prion protein PrPC exists in your brain, specifically in the thalamus, which helps regulate body functions like sleep.
When there’s a mutation on the PRNP gene, the amino acids that build the PrPC proteins don’t have instructions to build the proteins correctly. This mutation is similar to folding your laundry. If you’re unsure how to fold a t-shirt, you might ball up the fabric and put it in a drawer. Over time, that drawer progressively becomes difficult to close because you collect several t-shirts that aren’t folded correctly. Misfolded t-shirts are PrPC proteins that collect on your brain and become toxic to the cells in your nervous system, which creates symptoms.
Can I inherit fatal familial insomnia?
Yes, you can inherit fatal familial insomnia (FFI). This genetic mutation passes in an autosomal dominant pattern, where only one parent needs to pass the affected gene for you to inherit the condition.
Rare cases of FFI occur sporadically, which means that there’s no history of the condition in your family and the gene is a new mutation. You can pass the new mutation onto your future children.
If you plan on becoming pregnant and want to understand your risk of having a child with a genetic condition, talk to your healthcare provider about genetic testing.
What is the cause of death among people diagnosed with fatal familial insomnia?
The cause of death for people diagnosed with fatal familial insomnia is damage to the brain and nervous system. This damage, caused by prion proteins accumulating in the thalamus, creates symptoms of insomnia and mental deterioration.
Why is sleep important?
Sleep plays an important role in keeping you healthy. Sleeping improves your mental and physical health. When you’re asleep, your brain works with your body to support itself so you feel awake and energized in the morning. If you don’t get enough sleep, your brain loses the ability to recharge and it affects your ability to think and function normally. If your brain isn’t functioning at 100%, it consequently affects how your body feels and functions.
People diagnosed with fatal familial insomnia are unable to sleep, which disrupts how their brain functions. This creates negative side effects that challenge their overall well-being, causing life-threatening symptoms.
