User:Mr. Ibrahem/Fatal insomnia
Fatal insomnia | |
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MRI of a person with FFI showing abnormal signals in the frontoparietal subcortical areas. MRA showed smaller distal branches of cerebral arteries. | |
Specialty | Psychiatry, sleep medicine |
Symptoms | Progressive trouble sleeping, mental health problems, poor coordination, weight loss, excessive sweating[1] |
Usual onset | 40–60 years[1] |
Types | Fatal familial insomnia, sporadic fatal insomnia[2] |
Causes | Genetic mutation, sporadic[3] |
Risk factors | Family history[3] |
Diagnostic method | Sleep study, PET scan, genetic testing[1] |
Differential diagnosis | Creutzfeldt–Jakob disease, Alzheimer’s disease, frontotemporal dementia, Huntington disease, dementia with Lewy bodies[3] |
Treatment | Supportive care[2] |
Prognosis | Life expectancy 7 months to 6 years[2] |
Frequency | Rare[3] |
Fatal insomnia is a rare disorder that results in trouble sleeping.[2] It typically start out gradually and worsen over time.[3] Other symptoms may include mental health problems, poor coordination, weight loss, and excessive sweating.[1] When people who are affected sleep they often have vivid dreams.[3] Death generally occurs in 6 to 36 months from the onset of symptoms.[1]
Fatal insomnia is a prion disease of the brain.[2] It is usually caused by a mutation to the protein PrPC.[2] The mutation is typically inherited from a parent in an autosomal dominant fashion, though may rarely occur as a new mutation.[1] The form due to an underlying mutation is known as fatal familial insomnia (FFI), though the disease may also occur randomly, known as sporadic fatal insomnia (sFI).[3] Diagnosis is based on a sleep study, PET scan, and genetic testing.[1]
Fatal insomnia has no known cure, with efforts directed at improving a person's symptoms.[1][3] Fatal insomnia is rare.[3] Males and females are affected equally frequently.[3] Onset is typically between the ages of 40 and 60.[1] The first recorded case was an Italian man, who died in Venice in 1765.[4]
References[edit]
- ^ a b c d e f g h i "Fatal familial insomnia". Genetic and Rare Diseases Information Center (GARD) – an NCATS Program. Retrieved 17 May 2019.
- ^ a b c d e f "Fatal Insomnia - Neurologic Disorders". Merck Manuals Professional Edition. Retrieved 17 May 2019.
- ^ a b c d e f g h i j "Fatal Familial Insomnia". NORD (National Organization for Rare Disorders). Retrieved 17 May 2019.
- ^ Max, D. T. (2007). The Family that Couldn't Sleep: A medical mystery. New York: Random House Trade Paperbacks. p. 4.