Symptoms of a rare brain disorder that keeps people awake and eventually kills them – Health

There’s nothing worse than having trouble sleeping, especially when you’re very tired.

But there is actually a brain disorder that ultimately leads to the complete loss of the ability to sleep and results in death.

Fatal familial insomnia (FFI) is an extremely rare genetic disorder that affects the nervous system and the brain. Only one to two people in a million suffer from FFI, and the symptoms can be difficult to spot.

What causes fatal familial insomnia?

FFI is caused by a mutation or change in the prion-related protein (PRNP) gene, which is responsible for making the prion protein PrPC. This exists in your brain and helps regulate bodily functions, such as sleep.

The Cleveland Clinic uses an example of folding laundry to demonstrate the importance of the PRNP gene.

“When there is a mutation in the PRNP gene, the amino acids that build PrPC proteins do not have instructions for building the proteins correctly. This mutation is similar to folding your laundry,” the site says.

“If you don’t know how to fold a t-shirt, you risk balling up the fabric and putting it in a drawer. Over time, that drawer gradually becomes difficult to close as you collect multiple t-shirts that don’t fit. are not folded correctly.

“Improperly folded t-shirts are PrPC proteins that build up in your brain and become toxic to the cells in your nervous system, creating symptoms.”

FFI can be inherited and only one parent must pass on the affected gene for their child to inherit the disease. Rare cases of FFI without a family history occur.

If you have FFI, you can potentially pass the mutation on to your own children.

What are the symptoms of deadly family insomnia?

The three main symptoms of FFI are insomnia or difficulty sleeping, memory loss, and muscle twitching or twitching. The disease is degenerative, meaning symptoms continue to get worse over time.

Overactivity of the nervous system, such as high blood pressure, anxiety, and an unusually fast heart rate, is also a symptom of FFI, as is experiencing hallucinations or seeing things that aren’t there. .

Weight loss and changes in mental health are also changes to watch for.

Symptoms usually begin between the ages of 20 and 70, with the average age to start experiencing symptoms being 40. Early symptoms may resemble those of dementia or Alzheimer’s disease.

Can should fatal family insomnia be treated?

The symptoms of FFI are life-threatening and there is currently no cure for this disease. Studies into appropriate treatment options to reduce the progression of symptoms and extend the life expectancy of people with this condition are underway, according to the Cleveland Clinic.

Death from FFI occurs due to damage to the brain and nervous system, leading to mental deterioration and insomnia.

Life expectancy can vary from a few months to a few years, with treatment generally focused on palliative care.