Sleeping enough is a habit as important as eating properly or performing some physical activity. According to the Spanish Sleep Society«Sleeping is a necessary activity, because with it The basic physical and psychological balance of people is restored».
In addition, the rest that each person needs can vary according to age, the state of mental and physical health or other factors. «The ideal sleep time It is the one that allows us to carry out the daily activities normally, ”says the aforementioned source.
Consequently, lack of sleep or not to sleep can affect different levels of health, with symptoms such as finding us without energy or being in a bad mood, which can lead to much more serious conditions. There are different types of insomnialike the transitory, which lasts less than a week, which can last four weeks. If it exceeds that period of time, it would be considered chronic insomnia.
Although the factors involved in the appearance and maintenance of insomnia are many, there is a very remote reason that occurs in our country and that is A rare disease On which its existence is barely known: fatal family insomnia.
What is fatal or lethal family insomnia?
Núria Roure is a Expert Psychologist in Sleep And, in his passage through the podcast ‘he had the doubt’ of Judith Tira, one of the questions asked during the interview has derived in explaining what the fatal family insomnia consists of:
«It is one hereditary disease. There is only one strain in Spain, in the north, a strain of that gene that is transmitted by the family, they already know, that when they will arrive, more or less, 20, 30 years That gene is activated and stop sleeping. There is an affectation in the thalamus in the brain part and there comes a time that stops sleeping completely, ”he explains, although there are also cases in Jaén.
Given this explanation, the interviewer asks that if who suffers from this disease dies when he stops sleeping completely: «Eleven days die. They know it and There is no treatment nor anything we can help you. Imdate yourself if it is important to sleep, because if the body does not make those hours of sleep, it does not regenerate and are failing important parts of our body. All our systems are repaired when we sleep, ”says the psychologist.
In the interview they also deal with how the disease manages those affected by fatal family insomnia: «They already have many generations and They already know. It has no solutionwe have not found a cure, ”says the expert.
Fatal family insomnia symptoms
According to National Institute of Healththis disease is characterized by being progressive and neurodegenerativewhich means that over time there are less neurons (nerve cells) in the thalamus and has symptoms such as progressive insomnia, weight loss, high or low body temperature, lack of appetite, high blood pressure, excessive hyperventilation, sweating and salivation, erectile dysfunction and rapidly progressive dementia.
When The condition is more advanced others of its signs They are usually uncontrolled movements or ataxia, severe confusion, hallucinations, muscle spasms, inability to walk and speak and, finally, total disability to sleep.
In addition, the survival of this disease “is more or less 12 to 18 years, from the appearance of the first symptomsbut the new investigations may improve the prognosis ».
Regarding the way in which this disease is inherited, the source cited indicates that “it is autosomal dominant, if a copy of the abnormal gene is inherited the person can be affected […] If a person has a dominant autosomal disease The possibility of having an affected child or daughter with this disease is 50% for each pregnancy».
How is fatal family insomnia diagnosed?
To know if a person suffers from this disease, in addition to their genetic family history, one of the first signals is The rapid progressive or dementia cognitive deteriorationas indicated by National Institute of Health, «along with changes in behavior or mood, ataxia and sleep disorders.
The additional diagnosis includes the study of sleep and probably also a PET scanner (PET scan) to confirm talamic hypometabolism (which means that the thalamus in the brain is less active than it should be) ».
Does it affect more in Spain than in other countries?
In recent years, more than 100 cases of fatal family insomnia have been known in the world and 70 of them were in Spainaccording to an article from ‘Cadena Ser’. Most of these cases have been registered in the Basque Country and the explanation would be the so -called ‘founding effect’. This assumes that a person with that genetic mutation was established in that specific area and the genetic variation was transmitted from generation to generation.
This conclusion was derived from the doctoral thesis of Ana Belén Rodríguez, a Spanish biologist who studied the family trees of the affected families in the aforementioned territory, finding two ancestors in common, says ‘RTVE’.
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