Fatal insomnia

Prion disease of the human brain / From Wikipedia, the free encyclopedia

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Fatal familial insomnia (FFI) is an extremely rare genetic (and even more rarely, sporadic) disorder that results in trouble sleeping as its hallmark symptom.[2] The problems with sleeping typically start out gradually and worsen over time.[4] Eventually, the patient will succumb to total insomnia (agrypnia excitata), most often leading to other symptoms such as speech problems, coordination problems, and dementia.[5][6] It results in death within a few months to a few years and has no known cure.[2]

Quick facts: Fatal insomnia, Specialty, Symptoms, Complica...
Fatal insomnia
Cranial imaging of an FFI patient. In the MRI, there are abnormal signals in the bilateral frontoparietal subcortical area. MRA showed smaller distal branches of cerebral arteries.
SpecialtyNeurology, Psychiatry, Sleep medicine, Neuropathology
SymptomsProgressive insomnia, ataxia, double vision, weight loss, high blood pressure, excessive sweating
ComplicationsPermanent state of hypnagogia later in the illness
Usual onset45–50 years old[1]
TypesFatal familial insomnia, sporadic fatal insomnia[2]
CausesGenetic mutation, sporadic form (very rare)
Risk factorsFamily history
Diagnostic methodSuspected based on symptoms, Supported by Sleep study, PET scan and genetic testing (If Familial form is suspected)[3]
Differential diagnosisAlzheimer's disease, frontotemporal dementia, other transmissible spongiform encephalopathies[4]
TreatmentSupportive care[2]
PrognosisAlways fatal
Frequency70 families worldwide are known to carry the gene associated with the disease, 37 sporadic cases diagnosed (as of September 20th, 2022)