User:Mr. Ibrahem/Fatal insomnia

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Fatal insomnia
MRI of a person with FFI showing abnormal signals in the frontoparietal subcortical areas. MRA showed smaller distal branches of cerebral arteries.
SpecialtyPsychiatry, sleep medicine
SymptomsProgressive trouble sleeping, mental health problems, poor coordination, weight loss, excessive sweating[1]
Usual onset40–60 years[1]
TypesFatal familial insomnia, sporadic fatal insomnia[2]
CausesGenetic mutation, sporadic[3]
Risk factorsFamily history[3]
Diagnostic methodSleep study, PET scan, genetic testing[1]
Differential diagnosisCreutzfeldt–Jakob disease, Alzheimer’s disease, frontotemporal dementia, Huntington disease, dementia with Lewy bodies[3]
TreatmentSupportive care[2]
PrognosisLife expectancy 7 months to 6 years[2]
FrequencyRare[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]

  1. ^ 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.
  2. ^ a b c d e f "Fatal Insomnia - Neurologic Disorders". Merck Manuals Professional Edition. Retrieved 17 May 2019.
  3. ^ a b c d e f g h i j "Fatal Familial Insomnia". NORD (National Organization for Rare Disorders). Retrieved 17 May 2019.
  4. ^ Max, D. T. (2007). The Family that Couldn't Sleep: A medical mystery. New York: Random House Trade Paperbacks. p. 4.