Characteristics Of Fatal Familial Insomnia

Fatal familial insomnia is a rare genetic disease, and the incidence of it is quite low. Thus, people with the condition usually have a family history of the disorder.

It is actually an inherited pathology, although it may also be due to the prion-abnormal disease-causing proteins. Both factors combine to transmit this prion, and carry the disease from parents to children.

As the name suggests, fatal familial insomnia is the inability to sleep. The causative prions change the patient’s circadian rhythm to the point of keeping them awake at all times. Of course, the mental and physical strain leads to a kind of coma that ends with death.

Fatal familial insomnia falls within the group of prion diseases called spongiform encephalopathies. Perhaps the most well-known disorder of this type is mad cow disease, and it is definitely similar to this disease in terms of causes.

The prion is activated and the symptoms usually begin between the ages of 30 and 60 when the prion is activated and causes symptoms. There are registrations of younger cases, but they are not the norm. Some families expect it because they have a family history with it.

Causes of fatal familial insomnia

As we mentioned above, fatal familial insomnia is a prion disease. These are derived from a DNA mutation that is eventually expressed in a defective protein. The prion then attacks the neurons and leads to spongiform encephalopathy.

The mechanism of this condition is similar to mad cow disease and Creutzfeldt-Jakob disease; it is genetic.

The genetic modification of the prion disease has now been identified and referred to as PRNP. The altered protein affects the thalamus area, the region that regulates most circadian rhythms, especially the sleep-wake cycle. The thalamus gradually degenerates and leads to coma.

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Symptoms of the disease

The most characteristic sign of fatal familial insomnia is the inability to sleep. A person just can not do it even when he is tired and tired. Then they will probably enter a period of drowsiness and usually come out of that agitation, with hallucinations and with changes in the respiratory rhythm.

The course of the disease in this condition leads to coma. This is because the body needs sleep for the physiology of neurons and other cells to restart and continue. The cause of hallucinations, memory loss and behavioral changes is a consequence of this lack of rest.

Stress is very high, of course. As you may imagine, a person who does not get a proper night’s sleep already feels disturbed and may not feel well. In addition, the change in circadian rhythm is coupled with an increase in the secretion of cortisol, a hormone that generates stress symptoms.

Diagnosis of fatal familial insomnia

Diagnosing fatal familial insomnia can be easy or difficult. There is a well-founded suspicion that there is a family history about it.

Usually, a person first consults a doctor for insomnia – the inability to fall asleep. Then they can add other symptoms such as stress and memory loss. The person skilled in the art will probably prescribe a sleep study first.

The next complementary method is positron emission tomography, to identify metabolic changes in the thalamus. The most common finding is a decrease in metabolic activity in the region due to the degeneration it causes.

Gene identification is now possible thanks to genetics. Today, professionals will also conduct studies on children and grandchildren. It is the best way to detect the mutation in a family that has a history of fatal familial insomnia before the signs appear.

The most severe insomnia of all

Fatal familial insomnia is a serious disease without a cure. It develops gradually by destroying the thalamus, causing coma and ending in death. As you can imagine, the quality of life of these patients is terrible in the last months of life.

It is actually a rare disease, so research on it does not attract many followers or large funds. However, there are research groups that are exclusively dedicated to finding treatments for these people.