Idiogram of chromosome 20 showing gene PRP location The presentation of the disease varies considerably from person to person, even among people within the same family. Death usually occurs between 7–36 months from onset. The disease can be detected prior to onset by genetic testing. The age of onset is variable, ranging from 18 to 60 years, with an average of 50. During these stages, people commonly and repeatedly move their limbs as if dreaming. As the disease progresses, the person becomes stuck in a state of pre-sleep limbo, or hypnagogia, which is the state just before sleep in healthy individuals. The sporadic form of the disease often presents with double vision. Other symptoms include profuse sweating, pinpoint pupils, the sudden entrance into menopause for women and impotence for men, neck stiffness, and elevation of blood pressure and heart rate. Dementia, during which the person becomes unresponsive or mute over the course of six months, is the final stage of the disease, after which death follows.Complete inability to sleep is followed by rapid loss of weight.Hallucinations and panic attacks become noticeable, continuing for about five months.The person has increasing insomnia, resulting in panic attacks, paranoia, and phobias.The first recorded case was an Italian man, who died in Venice in 1765. The average survival time from onset of symptoms is 18 months. Similar to other prion diseases, the diagnosis can only be confirmed by a brain autopsy at post-mortem.įatal insomnia has no known cure and involves progressively worsening insomnia, which leads to hallucinations, delirium, confusional states like that of dementia, and eventually death. Diagnosis is suspected based on symptoms and can be supported by a sleep study, a PET scan, and genetic testing if the patient's family has a history of the disease. It has two forms: fatal familial insomnia (FFI), which is autosomal dominant and sporadic fatal insomnia (sFI) which is due to a noninherited mutation. It is usually caused by a mutation to the gene encoding protein PrP C. It results in death within a few months to a few years. Other symptoms may include speech problems, coordination problems, and dementia. The problems with sleeping typically start out gradually and worsen over time. Prion disease characterized by subacute onset of insomnia showing as a reduced overall sleep time, autonomic dysfunction, and motor disturbancesįatal insomnia is an extremely rare disorder that results in trouble sleeping as its hallmark symptom.
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