Fatal Family Insomnia: Cause and Treatment

Although it is rare, today, it becomes more frequent to hear about this condition known as Fatal Family Insomnia.

It is a severe sleep disorder that progresses rapidly in unavoidable conditions. It is caused by a genetic mutation, which affects the central nervous system and alters the sleep-wake states.

Fatal family insomnia usually begins when someone has trouble falling asleep, a common symptom among all the different types of insomnia. Within several months this condition causes a severe inability, intractable, to sleep, a fatal disease for the body.

Other symptoms known to this disorder, in addition to implacable insomnia that develops over several months, are collectively called dysautonomia, which refers to the abnormal functioning of the autonomic nervous system, part of the nervous system responsible for the automatic functions of the body, such as maintenance of blood pressure, heart rate, and temperature among others.

Therefore, fatal familial insomnia also causes blood pressure to be high, with a rapid heart rate and excessive sweating. Other symptoms include difficulty walking, muscle spasms called myoclonus, and tremors.

The disease lasts from six months to 3 years, rapidly progressing to coma and death.

Causes

The cause of fatal familial insomnia is genetic. It is likely due to an autosomal dominant inheritance pattern in more complex terms due to a gene mutation in the substitution of one amino acid for another. Amino acids are the building blocks of proteins, and this substitution results in protein misfolding and dysfunction. Ultimately, protein problems lead to a severe loss of neurons and changes in healing called gliosis in part of the brain known as the thalamus.

Family Lethal Insomnia Treatment

Unfortunately, there are few treatment options available for fatal family insomnia. Medications such as barbiturates and benzodiazepines can be used to induce sleep patterns on the EEG (electroencephalogram). However, the effects of this sleep disorder are implacable, and, as the name says, it is fatal.