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Fatal Insomnia

(Fatal Familial Insomnia; Sporadic Fatal Insomnia)

By

Pierluigi Gambetti

, MD, Case Western Reserve University

Last full review/revision Jun 2020| Content last modified Jun 2020
Click here for the Professional Version

Fatal insomnia is a rare prion disease that interferes with sleep and leads to deterioration of mental function and loss of coordination. Death occurs within a few months to a few years.

Fatal insomnia has two forms:

  • Familial: This form, called fatal familial insomnia, is inherited. It is due to a specific mutation in the gene for a normal protein called cellular prion protein (PrPC).

  • Sporadic: This form occurs spontaneously, without a genetic mutation.

Fatal familial insomnia and sporadic fatal insomnia differ from other prion diseases Overview of Prion Diseases Prion diseases are rare progressive, fatal, and currently untreatable degenerative disorders of the brain (and rarely of other organs) that result when a protein changes into an abnormal form... read more because they affect predominantly one area of the brain, the thalamus, which influences sleep.

In fatal familial insomnia, symptoms may begin in a person's late 20s to the early 70s (average is 40 years). Death usually occurs 7 to 73 months after symptoms begin. The sporadic form begins slightly later, and life expectancy is slightly longer.

Symptoms of Fatal Insomnia

In the familial form, early symptoms include minor difficulties falling and staying asleep and occasional muscle twitching, spasms, and stiffness. During sleep, people may move a lot and kick. Eventually, they cannot sleep at all. Later, mental function deteriorates and coordination is lost (called ataxia Coordination Disorders Coordination disorders often result from malfunction of the cerebellum, the part of the brain that coordinates voluntary movements and controls balance. The cerebellum malfunctions, causing... read more ). The heart rate may become rapid, blood pressure may increase, and people may sweat profusely.

In the sporadic form, early symptoms include a rapid decline in mental function and loss of coordination. People with this form may not report sleep problems, but sleep studies can detect abnormalities.

Diagnosis of Fatal Insomnia

  • A doctor's evaluation

  • Polysomnography and positron emission tomography

  • For the familial form, genetic testing

Doctors consider fatal insomnia as a rare possible diagnosis when people have typical symptoms, such as rapidly deteriorating mental function, loss of coordination, and/or sleep problems. The following are done to confirm the diagnosis:

The diagnosis of fatal familial insomnia is confirmed by genetic testing.

Treatment of Fatal Insomnia

  • Supportive measures

No treatment is available.

Treatment of fatal insomnia focuses on relieving symptoms and making the person as comfortable as possible. Measures to help people sleep have been tried, but the benefits were only temporary.

NOTE: This is the Consumer Version. DOCTORS: Click here for the Professional Version
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