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Fatal family insomnia

Medical expert of the article

Professor Shlomo KONSTANTINI

Children's neurosurgeon

Alexey Kryvenko, medical expert
Last reviewed: 23.04.2024

Epidemiology

Symptoms
Diagnostics
Who to contact?

Fatal familial insomnia is a typical hereditary prion disease causing sleep disorders, movement disorders and death.

trusted-source [1], [2], [3],

Epidemiology

Fatal family insomnia is a very rare (sporadic) autosomal dominant disease, to date, no more than 40 cases have been reported worldwide. The average age of debut of the disease is about 40 years (from 30 to 60).

trusted-source [4], [5], [6], [7]

Symptoms of the fatal familial insomnia

In the early stages, fatal familial insomnia manifests as a sleep disorder and intermittent motor disorders (myoclonic cramps, spastic paresis). This stage can last for several months, but is eventually aggravated with the development of severe insomnia, myoclonus, hyperreactivity of the sympathetic nervous system (high blood pressure, tachycardia, hyperthermia, increased sweating) and dementia. Death occurs on average after 13 months.

Suspicion of a fatal family insomnia should occur if the patient has motor disorders, sleep disorders and family history.

trusted-source [8], [9], [10]

Diagnostics of the fatal familial insomnia

Conduct a genetic test that can confirm the diagnosis.

trusted-source [11], [12], [13], [14]

Who to contact?

Neuropathologist