Spread the love

A very rare inherited sleeping disorder is called “fatal familial insomnia”. Explanations.

In an article published in ELLE magazine, Victoria testifies to having lost all the members of her family, when she was only 34 years old. All died of the same thing: an extremely rare disease, called Fatal Familial Insomnia. She herself carries the genetic mutation that could make her sick one day. But what is this sleeping sickness, called IFF?

On the same subject

Tips for sleeping well and stopping dozing during the day

Fatal family insomnia is an encephalopathy (brain disorder of toxic origin or linked to degeneration) of genetic origin, recalls Inserm. But there is also a sporadic form (without heredity) specifies the MSD Manual. It is a mutation which causes it and which has an impact on the human prion protein. This is why it is called “prion disease”. There are three: fatal familial insomnia, Creutzfeldt-Jakob disease and Gerstmann-Straüssler-Scheinker syndrome. They represent 100 to 150 cases per year and still have no specific treatment to date..

“Prion diseases – also called transmissible subacute spongiform encephalopathies (TSSE) – are rare diseases, characterized by rapid and fatal degeneration of the central nervous system. They are due to the accumulation in the brain of a normally expressed but poorly shaped protein – the prion protein – which leads to the formation of deleterious aggregates for neurons. For the time being, no treatment can modify the course of these diseases”, recalls Inserm.

Triggering and Symptoms of IFF

In the case of Fatal Family Insomnia, the onset is around the age of 50 according to Inserm, but it can be declared very young, as Victoria, who lost her child brother, points out. It has an impact on the sleep of patients, who no longer manage to reach the paradoxical sleep phase. Then comes major insomnia, associated with neurovegetative disorders.

As a reminder, paradoxical sleep is a relatively rapid phase of the cycle when you are an adult, during which you dream. The cerebral activity is very intense but the body does not move any more, it is paralyzed. It is also during this phase that our eyes move rapidly under our eyelids, moreover this stage of sleep is also called REM for “rapid eye movement”. It’s something that evolves over the course of life, tending to last longer when you’re young (it’s most of the sleep of newborns and children) and to decrease as you get older.

But this phase, like the rest of the sleep phases, is essential. Many studies have linked sleep disorders with impaired cognitive abilities. It is while sleeping that our brain manages to evacuate toxins from its tissues. In an interview granted to ELLE magazine, doctor Jean-Philippe Brandel, specialist in prion diseases, specifies: “one should not imagine a classic insomnia where the patient would sleep only four hours per night. very severe, resistant to all treatments and often accompanied by hallucinations.”

The MSD Manual describes IFF as follows: “Early symptoms include minor difficulty falling asleep and staying awake, and sometimes muscle twitching, spasms, and stiffness. During sleep, people can move a lot and kick. Eventually, sleep is impossible. Later, cognitive functions deteriorate and coordination is lost (ataxia). The heartbeat may speed up, blood pressure may increase and sweating become profuse.”

Life expectancy and treatment for IFF

To detect it, we do a clinical examination, followed by a polysomnography (which detects sleep abnormalities), as well as a positional emission tomography (which looks for abnormalities of the thalamus), and finally a genetic test.

Unlike insomnia disorders that can be accompanied by drug treatments, such as sleeping pills for example, IFF has the particularity of being “resistant to any treatment“, notes Inserm. We do not know how to treat it, and not to cure it either. In fact, life expectancy is very short. When the disease occurs, insomnia is followed by movement disorders and then dementia.Between 6 and 30 months, patients die from it, according to Inserm.The MSD Manual mentions a period of time of 7 to 73 months.

Sources: ELLE, Inserm, MSD Manual

Leave a Reply

Your email address will not be published.