Fatal insomnia: Difference between revisions

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{{SI}}
{{Infobox medical condition
| name            = Fatal insomnia
| image          = [[File:Cranial_imaging_of_a_FFI_patient.jpg|250px]]
| caption        = Cranial imaging of a patient with fatal familial insomnia
| field          = [[Neurology]]
| symptoms        = [[Insomnia]], [[hallucinations]], [[delirium]], [[confusion]], [[autonomic dysfunction]]
| onset          = Middle adulthood
| duration        = Months to a few years
| types          = [[Fatal familial insomnia]], [[Sporadic fatal insomnia]]
| causes          = [[Prion disease]]
| risks          = Genetic mutation in the [[PRNP]] gene
| diagnosis      = [[Polysomnography]], [[Genetic testing]], [[MRI]]
| differential    = [[Other prion diseases]], [[Alzheimer's disease]], [[Lewy body dementia]]
| treatment      = Supportive care
| prognosis      = Poor, invariably fatal
| frequency      = Extremely rare
}}
== Fatal Insomnia ==
== Fatal Insomnia ==
[[File:Cranial_imaging_of_a_FFI_patient.jpg|thumb]]
[[File:Cranial_imaging_of_a_FFI_patient.jpg|left|thumb]]
[[File:Location_of_PRNP-gene_in_chromosome_20.png|thumb|left]]
[[File:Location_of_PRNP-gene_in_chromosome_20.png|left|thumb]]
[[File:FFI_Diagrams.jpg|thumb]]
[[File:FFI_Diagrams.jpg|left|thumb]]
[[File:FFI_timeline.jpg|thumb|left]]
[[File:FFI_timeline.jpg|left|thumb]]
Fatal insomnia is a rare disorder characterized by difficulty sleeping, which gradually worsens over time. Other symptoms may include speech and coordination problems, as well as dementia. This prion disease of the brain eventually leads to death within months to years.
Fatal insomnia is a rare disorder characterized by difficulty sleeping, which gradually worsens over time. Other symptoms may include speech and coordination problems, as well as dementia. This prion disease of the brain eventually leads to death within months to years.
=== Signs and Symptoms ===
=== Signs and Symptoms ===
Fatal insomnia progresses through four stages:
Fatal insomnia progresses through four stages:
Increasing insomnia, leading to panic attacks, paranoia, and phobias (about 4 months)
Increasing insomnia, leading to panic attacks, paranoia, and phobias (about 4 months)
Hallucinations and panic attacks become noticeable (about 5 months)
Hallucinations and panic attacks become noticeable (about 5 months)
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Dementia, unresponsiveness, or muteness, followed by death (about 6 months)
Dementia, unresponsiveness, or muteness, followed by death (about 6 months)
Additional symptoms may include profuse sweating, pinpoint pupils, sudden menopause for women or impotence for men, neck stiffness, elevated blood pressure and heart rate, and constipation.
Additional symptoms may include profuse sweating, pinpoint pupils, sudden menopause for women or impotence for men, neck stiffness, elevated blood pressure and heart rate, and constipation.
=== Cause ===
=== Cause ===
Fatal insomnia is caused by a mutation in the protein PrPC. It has two forms: [[Fatal Familial Insomnia]] (FFI), which is autosomal dominant, and [[Sporadic Fatal Insomnia]] (sFI), which is due to a non-inherited mutation.
Fatal insomnia is caused by a mutation in the protein PrPC. It has two forms: [[Fatal Familial Insomnia]] (FFI), which is autosomal dominant, and [[Sporadic Fatal Insomnia]] (sFI), which is due to a non-inherited mutation.
=== Diagnosis ===
=== Diagnosis ===
Diagnosis is typically based on a sleep study, PET scan, and genetic testing.
Diagnosis is typically based on a sleep study, PET scan, and genetic testing.
=== Treatments ===
=== Treatments ===
There is currently no known cure for fatal insomnia. Treatment involves supportive care, and sleeping pills have not been found helpful.
There is currently no known cure for fatal insomnia. Treatment involves supportive care, and sleeping pills have not been found helpful.
=== Prognosis ===
=== Prognosis ===
The disorder is invariably fatal, with life expectancy ranging from 7 months to 6 years, and an average of 18 months.
The disorder is invariably fatal, with life expectancy ranging from 7 months to 6 years, and an average of 18 months.
=== Epidemiology ===
=== Epidemiology ===
Cases of fatal insomnia have been reported in various countries, including Italy, the United States, and the Netherlands. The age of onset varies from 18 to 60 years, with an average of 50.
Cases of fatal insomnia have been reported in various countries, including Italy, the United States, and the Netherlands. The age of onset varies from 18 to 60 years, with an average of 50.
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Latest revision as of 16:22, 6 April 2025

Editor-In-Chief: Prab R Tumpati, MD
Obesity, Sleep & Internal medicine
Founder, WikiMD Wellnesspedia &
W8MD medical weight loss NYC and sleep center NYC

Fatal insomnia
Synonyms N/A
Pronounce N/A
Specialty N/A
Symptoms Insomnia, hallucinations, delirium, confusion, autonomic dysfunction
Complications N/A
Onset Middle adulthood
Duration Months to a few years
Types Fatal familial insomnia, Sporadic fatal insomnia
Causes Prion disease
Risks Genetic mutation in the PRNP gene
Diagnosis Polysomnography, Genetic testing, MRI
Differential diagnosis Other prion diseases, Alzheimer's disease, Lewy body dementia
Prevention N/A
Treatment Supportive care
Medication N/A
Prognosis Poor, invariably fatal
Frequency Extremely rare
Deaths N/A


Fatal Insomnia[edit]

Fatal insomnia is a rare disorder characterized by difficulty sleeping, which gradually worsens over time. Other symptoms may include speech and coordination problems, as well as dementia. This prion disease of the brain eventually leads to death within months to years.

Signs and Symptoms[edit]

Fatal insomnia progresses through four stages: Increasing insomnia, leading to panic attacks, paranoia, and phobias (about 4 months) Hallucinations and panic attacks become noticeable (about 5 months) Complete inability to sleep, accompanied by rapid weight loss (about 3 months) Dementia, unresponsiveness, or muteness, followed by death (about 6 months) Additional symptoms may include profuse sweating, pinpoint pupils, sudden menopause for women or impotence for men, neck stiffness, elevated blood pressure and heart rate, and constipation.

Cause[edit]

Fatal insomnia is caused by a mutation in the protein PrPC. It has two forms: Fatal Familial Insomnia (FFI), which is autosomal dominant, and Sporadic Fatal Insomnia (sFI), which is due to a non-inherited mutation.

Diagnosis[edit]

Diagnosis is typically based on a sleep study, PET scan, and genetic testing.

Treatments[edit]

There is currently no known cure for fatal insomnia. Treatment involves supportive care, and sleeping pills have not been found helpful.

Prognosis[edit]

The disorder is invariably fatal, with life expectancy ranging from 7 months to 6 years, and an average of 18 months.

Epidemiology[edit]

Cases of fatal insomnia have been reported in various countries, including Italy, the United States, and the Netherlands. The age of onset varies from 18 to 60 years, with an average of 50.

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