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]
Prion disease of the human brain
Medical condition
| 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. | |
| Specialty | Neurology, Psychiatry, Sleep medicine, Neuropathology |
| Symptoms | Progressive insomnia, ataxia, double vision, weight loss, high blood pressure, excessive sweating |
| Complications | Permanent state of hypnagogia later in the illness |
| Usual onset | 45–50 years old[1] |
| Types | Fatal familial insomnia, sporadic fatal insomnia[2] |
| Causes | Genetic mutation, sporadic form (very rare) |
| Risk factors | Family history |
| Diagnostic method | Suspected based on symptoms, Supported by Sleep study, PET scan and genetic testing (If Familial form is suspected)[3] |
| Differential diagnosis | Alzheimer's disease, frontotemporal dementia, other transmissible spongiform encephalopathies[4] |
| Prevention | None |
| Treatment | Supportive care[2] |
| Medication | None |
| Prognosis | Always fatal |
| Frequency | 70 families worldwide are known to carry the gene associated with the disease, 37 sporadic cases diagnosed (as of September 20th, 2022) |