Genetic fatal insomnia – a family curse that is inherited
- 1 Causes of Fatal Family Insomnia
- 2 Probability of occurrence of the disease
- 3 Diagnostics
- 4 Stages and symptoms of fatal familial insomnia
- 5 Possibilities of modern medicine
Causes of Fatal Family Insomnia
Until recently, official medicine did not recognize family insomnia and attributed its symptoms to schizophrenia. However, with an increase in the number of cases of rare pathology described, the opinion of doctors began to change.
The breakthrough came in the 70s, when the Italian medical doctor Ignazio Reuter managed to establish that familial insomnia is hereditary. Two aunts and uncles of his wife died from this terrible disease. Reuter found out that several of his wife’s grandfathers also died due to lack of sleep.
An Italian physician has ensured that the brain of the deceased uncle is carefully examined. It turned out that a specific gene mutation was present in the cerebral cortex of the deceased relative Reuter.
What was it? In short, then:
- Fatal changes the 20th chromosome of DNA. Its 178th gene ceases to perform its natural function.
- Due to the deadly mutation of the gene instead of aspartic acid, without which the nervous system cannot function normally, asparagine is synthesized.
- As a result, an abnormal prion protein is produced. It is a dangerous lethal substance devoid of the genome.
- Its appearance in the body leads to disastrous mutations of the surrounding protein structures.
Prions begin to accumulate in the thalamus – part of the brain that is involved in many of the most important metabolic processes in the body. The thalamus in particular processes the nerve impulses that come from the central and peripheral nervous systems. It is thanks to this part of the brain that a person can sleep.
For fatal insomnia:
- Due to the accumulation of prions in the thalamus, plaques start to form from the harmful amyloid protein.
- The neurons of this most important brain region gradually cover a deadly patina like wax.
- The nuclei of the thalamus become porous and unable to function properly. That is why a person’s sleep disappears, a genetic fatal disease develops.
Probability of occurrence of the disease
The deadly mutation of the 20th chromosome is hereditary. Its transfer from parents to children is of the so-called autosomal dominant type. With this method of transmission pathology affects both men and women.
For familial insomnia to manifest, it is enough for a person to “inherit” a mutated gene from a father or mother suffering from a disease. Thus, the risk that children will suffer from this terrible disease is very high (50%).
The disease can occur in people without a genetic predisposition to it. In medical practice, there have been several cases of sporadic fatal insomnia, not associated with a hereditary gene mutation. The reason for the emergence of “non-hereditary” pathology has not yet been established.
To diagnose “prion” diseases is very difficult. Usually this is possible only after the death of the patient and the autopsy. But still sometimes it is possible to identify the disease, and some tests for insomnia should be passed to the patient. To diagnose, doctors:
- prescribe tomography of the brain;
- using puncturation take the cerebrospinal fluid (CSF) for analysis;
- thoroughly study the patient’s “genetic genealogy”, find out if no one in his family died of strange diseases like fatal insomnia.
Doctors also use a special verbal test for fatal insomnia, which consists of several dozen questions. It helps to confirm or deny the diagnosis.
Stages and symptoms of fatal familial insomnia
The disease usually begins to manifest itself when a person has already passed 50 years of age. Although cases of this rare genetic pathology were recorded in 30-35 years and even 20 years.
Fatal insomnia has 4 main phases.
For 1st phase characterized by progressive insomnia. Its duration is 3-4 months.
In this period:
- The patient wants to sleep, but cannot sleep for a long time. Any noises and rustles interrupt his superficial sleep.
- After 1-2 months, mental problems begin.
- covers clinical depression;
- there are constant nightmares that invade even the patient’s superficial sleep;
- tormented by panic attacks;
- annoying heavy phobias and neurosis.
After another month and a half, autonomic disorders are added to mental problems. In humans:
- palpitations and respiratory rate increase pathologically;
- high blood pressure appears;
- the body’s thermoregulation is disturbed, which is why the patient often sweats and suffers from fever. His saliva is too strong, or, on the contrary, he is constantly tormented by thirst, polyuria (pathologically frequent excretion of urine) appears;
- constipation, diarrhea, abdominal pain begin to torment.
Fatal pathology – familial hereditary insomnia, which is gradually gaining momentum. Its development very quickly reduces the quality of life.
2nd phase Fatal insomnia begins 4 months after the onset of pathology and lasts approximately 5 months. It is characterized by a general deterioration of the patient. The person is almost not sleeping at all, he has severe mental and neurological health problems.
The patient fully feels that such is fatal insomnia: hallucinations appear, body motility is disturbed, it becomes difficult to maintain balance while walking, arms and legs begin to tremble and twitch.
Inherited disease enters 3rd phase 8-9 months after the first signs and lasts about 3 months. Its main distinguishing feature is that the patient stops sleeping altogether. This is very quickly extremely depleting his body and leads to cachexia.
- rapidly losing weight;
- suffers from muscle weakness;
- deep wrinkles appear, skin dries out, the patient begins to look much older than his age;
- the patient’s personality changes dramatically for the worse: the person begins to have fits of anger, he commits rash acts.
Features of the last phase of the disease
4th “lethal” phase The disease occurs 11–12 months after its onset and lasts 5–6 months. This last stage of the terrible pathology is characterized by severe damage to the nervous system and serious disorders of mental activity.
A patient suffering from this terrible disease:
- dementia (dementia) appears;
- he does not react to anything — he does not speak, does not eat, and does not get out of bed;
- due to very low immunity, the patient’s body is literally occupied by various infectious diseases.
Phase 4 of family insomnia inevitably ends with the death of the patient. The main causes of death are the extreme degree of exhaustion or the inability of the body to combat a particular pathogen due to the almost complete lack of immunity.
Thus, a person dies approximately 18–20 months after the onset of the disease. However, all phases of pathology can proceed faster. The patient may die within 6-10 months after it began.
Possibilities of modern medicine
Currently, fatal genetic insomnia is not treatable. Even the most powerful hypnotics (hypnotic drugs) and powerful tranquilizers will not be able to help a person suffering from this hereditary pathology fall asleep.
Moreover, in many cases, psychotropic drugs only exacerbate the situation – lead to serious side effects and accelerate the course of the disease. The subsequent phase of insomnia due to such drugs appears faster. Does not help and artificial input of the patient in a coma. Even in this state, his brain does not fully “sleep” and continues to partially awake.
The medical community is trying hard to find a way to get rid of fatal insomnia. Most hopes are placed on breakthroughs in the field of genetic engineering. Scientists aim to suppress the activity of mutated genes that affect the brain thalamus. But so far there has been no significant progress in this area. Unable to synthesize and responsible for insomnia gene.
However, a little to extend and improve the quality of life of the patient is a doable task. A case has already been fixed when the patient managed to continue life for a whole year with the help of:
- special meditative techniques;
- carefully selected vitamin complexes;
- sleeping pills;
- methods of sensory deprivation – a complete or partial decrease in the sensitivity of some of the senses, its temporary “disconnection”.
This patient constantly had to be under the supervision of doctors, to be tested.
Fatal familial insomnia is a rare hereditary disease for which there is no cure. But, undoubtedly, soon in the future, advances in the field of genetic engineering will help to overcome this terrible pathology.