What Is Dysautonomia?

All of the symptoms of FFI combined are referred to as “dysautonomia,” which means a person has an abnormality in the functioning of the autonomic nervous system. Therefore, the condition also causes high blood pressure, rapid heart rate along with excessive perspiration. Other signs could include difficulty while walking, muscle twitching, and tremors.

What Is The Mechanism Of Action For FFI?

People normally experience different stages during normal sleeping. Those with fatal familial insomnia will not be able to go past the first stage of sleep, hence the brain does not get the rest needed to revive itself. Most reviving and repairing of the brain and body take place during the deeper phases of sleep. Since someone with FFI isn’t able to reach a deep phase of sleeping the body becomes worn out each passing day and the condition causes coma and eventual death.

Fatal Familial Insomnia: Stages

FFI manifests itself in four different stages and each one is worse than the next and includes the following:

• Stage I: Sudden and unexplainable onset of insomnia that results in panic attacks and lasts for about four months.
• Stage II: As an individual becomes sleep deprived, the panic attacks become more severe and hallucinations begin. This stage can last for around four to five months.
• Stage III: The total insomnia results in a person rapidly losing weight and experiencing limited mental functioning, lasting for up to three months.
• Stage IV: In the last stage, a person will suffer from dementia and become unresponsive. The final stage can last for up to six months with the individual eventually slipping into a coma and dying.

Diagnostic Testing For FFI

If a person is suspected of having FFI, a doctor may order a sleep study to be performed. Typically, with fatal familial insomnia, a sleep study will demonstrate a lack of short wave sleep. Additionally, there would be a decreased amount of stage two, non REM-sleep. Lastly, there would be a dissociated REM sleep without a person losing muscle tone.

A routine electroencephalogram or EEG, will show something called “diffuse slowing,” while a routine brain image like a CT scan or MRI would reveal a normal brain structure. A PET scan will show the individual has a decrease in glucose metabolism in the thalamus and putamen areas of the brain. While doing cognitive tests, an individual would demonstrate poor attention, hallucinations, confusion and disorientation.

Treatment Options For FFI

Because FFI is a genetic disorder, there is a 50 percent change of a parent passing it along to their children. It’s been shown sleeping pills and barbiturates are not effective for FFI treatment. On the contrary, these medications may actually worsen the clinical manifestations and quicken the course of the disease.

READ Chronic Insomnia

Unfortunately, there are no treatment options that will alleviate DDI symptoms. The course of this disease is unrelenting and as its name suggests, it is always ultimately fatal.