Gradually the patient stops responding to all stimuli and enters a deep state of dementia. There are also tremors, myoclonus, incoordination, alterations in speech and a visible deterioration of vital functions.Īlso the eyes of the patient look different, since the pupil remains very dilated. It lasts approximately 3 months, and at this stage the patient hardly sleeps. At this point, symptoms of fatal familial insomnia are likely to be confused with some psychiatric disorder. This second stage lasts approximately 5 months, during which the hallucinations begin to appear. Insomnia gets worse, the person sleeps less and less time and panic attacks become more frequent and intense.
Other symptoms that usually occur at this stage are anxiety, lack of interest in the environment, concentration problems And daytime sleepiness.įor those who observe the situation from the outside, these symptoms may be incomprehensible, which increases the anguish and fear that the patient experiences. In addition to severe insomnia, the person usually To suffer panic attacks. Usually the disease begins to manifest itself in the 50's and 60's, although cases have also been described in young adults. It usually lasts about four months, and time can vary depending on the age of the affected. Usually, in the evolution of fatal familial insomnia four stages can be distinguished: Stage 1 In one of the cases studied, it was observed that although the patient seemed to sleep and closed his eyes, in fact the brain waves did not behave as they normally do during sleep. This can only be demonstrated with a Polysomnography. In other words, it is possible that these people did not notice that they were sleeping poorly, although in fact it was so. In these patients insomnia was not a perceived problem, although there probably was alteration in the intrinsic processes of sleep. In some German patients it was observed that the serum alterations were slight, or that they were only recognized by the patients after a detailed retrospective questioning. However, in some cases insomnia may not be the most important symptom. In this way, patients may also suffer from hypertension, tachycardia, increased sweating, hyperthermia, urinary disorders and disturbances in the circadian rhythm.Īs the disease progresses, the person remains more time without sleep and there are problems of memory, hallucinations, difficulties to perform tasks and gradual loss of Cognitive functions. This insomnia is also progressive, worsens over time and is accompanied by autonomic nervous system. The main symptom is severe insomnia that does not respond to treatment with drugs. Those who have the genetic alteration caused by the IFF suffer from the disease and have a 50% chance of transmitting it to their offspring. In this way, the affected patients suffer a permanent alteration of their sleep cycle and can not sleep, which causes symptoms that aggravate in a short time, until cause the death. In the case of fatal familial insomnia, prions formed mainly damage neurons of the thalamus, one of the sleep regulating centers. Prions are able to transform normal proteins into prions, and they accumulate in certain areas of the brain causing damage to neurons.įrom this point of view, fatal familial insomnia is similar to Disease of the"mad cow", Which is also caused by prions that cause damage to the brain. This mutation causes the formation of an altered protein, Called prion. Causes of Fatal familial insomniaįatal familial insomnia is an inherited neurological disease caused by a particular mutation in the 178 gene. The propi Lugaresi had a close relative who suffered from this disorder, and after observing his symptoms carefully during the evolution of the degenerative picture, he concluded that it was not a psychiatric illness, but another type of alteration, which turned out to be a Genetic mutation. Many of them were hospitalized in psychiatric hospitals and died without their disease being correctly diagnosed. How was fatal familial insomnia discovered?īefore an Italian neurologist named Elio Lugaresi first described this disease in 1986, it was believed that those who actually suffered from fatal familial insomnia were being affected by some type of dementia The mental disorder. The presentation of the disease varies considerably from person to person, even among patients from the same family. Death usually occurs between seven and thirty-six months from the start. The disease can be detected before the onset by genetic tests. The age of onset is variable, from 18 to 60 years, with an average of 50. If only one parent has the gene, offspring have a 50% risk of inheriting and developing the disease. Mutated protein has been found in only 40 families worldwide, affecting about 100 people.
The average survival time for patients diagnosed with this disease after the onset of symptoms is 18 months.
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