fatal familial insomnia

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insomnia

 [in-som´ne-ah]
abnormal wakefulness; a sleep disorder consisting of an inability to fall asleep easily or to remain asleep throughout the night. The frequency of persistent insomnia is high; epidemiologic data indicate that it is the most common sleep disorder in the industrialized world. The causes may be physical, psychological, psychiatric, or presence of a specific sleep disorder. adj., adj insom´niac. 

The American Academy of Sleep Medicine recommends that health care practitioners should screen all patients for symptoms of insomnia during health examinations. Fatigue, irritability, reduction in memory, and loss of ability to concentrate are among the daytime manifestations of insomnia.

The treatment of insomnia must be individualized, based on the underlying cause. Physical and mental health problems must be addressed, although they cannot always be successfully treated. Specific medications for sleep, such as sedatives, hypnotics, and other agents are frequently used but are often asociated with development of tolerance, or with rebound insomnia when they are discontinued. Nonpharmacologic treatments that have strong research support include the following: stimulus control to retrain the person who is unable to sleep so that he or she re-associates the bed and bedroom with sleep; progressive muscle relaxation; paradoxical intention therapy where the patient stays awake to eliminate performance anxiety related to sleep; biofeedback; and multi-component (cognitive) therapy.

Numerous papers and guidelines to support evidence-based practice in the management of insomnia are available by writing to the American Academy of Sleep Medicine, 6301 Bendel Road NW, Suite 101, Rochester, MN 55901 or looking at their web site at http://www.aasmnet.org/practiceparameters.htm.
fatal familial insomnia an inherited prion disease, transmitted as an autosomal dominant trait. The cause is unknown, but it seems to affect primarily the thalamus with disruptions in the sleep-wake cycle. Onset is typically in midlife, characterized by progressive insomnia, hallucinations, and motor abnormalities followed by stupor and coma ending in death within 6 months to 3 years of onset. There may also be excessive sweating, elevated body temperature and blood pressure, and tachycardia.
primary insomnia a dyssomnia characterized by persistent difficulty initiating or maintaining sleep or by persistently nonrefreshing sleep, but not due to any other psychological or physical condition.

fatal familial insomnia

[MIM*600072] an autosomal dominant progressive neuropathy with progressive insomnia and thalamic lesions.

fa·tal fa·mil·i·al in·som·ni·a

(fātăl fă-milē-ăl in-somnē-ă)
[MIM*600072] A progressive neuropathy with worsening sleeplessness and thalamic lesions.

fatal familial insomnia

A genetically-determined condition occurring between the ages of 40 and 60, involving progressively worsening insomnia, intolerance to heat, watering eyes, progressive difficulty in walking, memory deterioration, speech defect, muscle jerks, progressive physical and mental deterioration and death within 7 to 33 months of onset. The disease, which features severe loss of nerve fibres in the thalamic nuclei at the base of the brain, is one of the growing list of serious disorders caused by abnormal prion proteins—a list that also includes Creutzfeldt-Jakob disease, new variant CJD, kuru, and Gerstmann-Sträussler disease. Sporadic fatal insomnia is also a prion disease and is probably identical to fatal familial insomnia.
References in periodicals archive ?
Prions are the cause of many degenerative brain diseases, such as Creutzfeldt-Jakob (CJD), Gerstmann-Straussler-Scheinker, fatal insomnia, and new-variant CJD, which, so far, has afflicted about 100 young adults in Great Britain and Europe.
Familial fatal insomnia involves the thalamus, and Heidenhain's variant involves the occipital lobes.
Reports of a small number of patients presenting with FFI type symptoms but without mutations in the PRNP raise the possibility of a sporadic form of fatal insomnia, one with no familial link (Gambetti et al.
Brief report: Prion protein conformation in a patient with sporadic fatal insomnia.
In humans, the prion diseases include CJD, Kuru, familial fatal insomnia (FFI) and Gerstmann-Straussler-Scheinker syndrome (GSS).