Fatal familial insomnia is a rare sleep disorder which affects the thalamus, a brain structure which controls many important things, such as emotional expression and sleep. This type of insomnia runs in families and its main symptom is insomnia. However, the fatal familial insomnia also triggers a number of other symptoms, including speech problems and dementia.

An even rarer variant of insomnia is known as sporadic fatal insomnia, but there have been only a few cases with this sleep disorder documented. What’s more, the information regarding this insomnia is very scarce, but it seems like the sporadic fatal insomnia is not genetic.

Fatal familial insomnia is called like that because it often causes death within a year of two of symptoms starting. However, the time can vary from person to person. It’s part of a family of conditions known as prion diseases.

Prion diseases are extremely rare conditions which cause a loss of nerve cells in the brain and these include kuru and Creutzfeldt-Jakob disease. On an annual basis, there are only about 300 reported cases of prion diseases in the United States. In fact, fatal familial insomnia is considered one of the rarest prion diseases.

Fatal Familial Insomnia Symptoms

The symptoms of this sleep disorder vary from person to person and usually show up between the ages of 32 and 62. Nevertheless, younger or older people are no exception to this disease

Some of the possible symptoms of early-stage fatal familial insomnia include:

• difficulty falling and staying asleep
• muscle twitching and spasms
• muscle stiffness
• movement and kicking when sleeping
• loss of appetite
• rapidly progressing dementia

In case you have a more advanced FFI, you might experience symptoms like:

• in ability to sleep
• loss of coordination, or ataxia
• deteriorating cognitive and mental function
• fever
• increased blood pressure and heart rate
• excessive sweating
• trouble speaking or swallowing
• unexplained weight loss

Fatal Familial Insomnia Causes

This sleep disease is caused by a mutation of the PRNP gene. This mutation causes an attack on the thalamus, which controls your sleep cycles and allows different parts of your brain to communicate with each other.

It is a progressive neurodegenerative disease as it causes your thalamus to gradually lose nerve cells.

The genetic mutation responsible for FFI is passed down through families. A parent with the mutation has a 50 percent chance of passing on the mutation to their child.

Diagnosis and Treatment

In order to diagnose this condition, you might be asked to keep detailed notes about your sleeping habits and you might need to undergo a sleep study. A home sleep study will help you rule out any other causes of your sleep problems, such as sleep apnea or narcolepsy.

Then, you might need to do a PET test, which is a type of imaging test that gives your doctor a better idea about how well your thalamus works.

Unfortunately, there is no cure for fatal familial insomnia. However, there are a number of treatments which can effectively help manage symptoms, such as sleep medications.