Many us us suffer from sleep issues, otherwise you might not be reading this blog. As you may know from my other posts, I have struggled most of my life with sleep–either not being able to fall asleep, or waking up in the middle of the night and not being able to fall back asleep, or getting too much sleep due being on medications. And I’ve suffered rebound insomnia from going off sleep medications. It’s no fun, as you know.
But I never considered that insomnia could actually be fatal, although on many sleepless nights it sure felt that way.
It turns out that if you suffer from the inability to fall asleep, you have a very slight chance of suffering from a rare genetic disease known as fatal familial insomnia. It actually slowly leads to death within two years.
When I fist heard about this disease the first thing that came to mind was the sad case of Michael Jackson. Could he have been suffering from fatal familial insomnia?
In case you were wondering, the initial warning sign is difficulty falling asleep, but leads to an activation of the autonomous system, leading to high blood pressure, elevated pulse, and night sweats. Other signs include difficulty walking, muscle twitching, and shaking.
Here is more information you might find useful about this horrible condition:
Exploring the Cause of Fatal Familial Insomnia
The cause of fatal familial insomnia is genetic. In more complex term, it’s likely due to an autosomal dominant pattern of inheritance. A gene mutation results in the substitution of one amino acid for another. Amino acids are the building blocks of proteins, and this substitution leads to protein misfolding and dysfunction. Ultimately, the protein problems lead to severe loss of neurons and scarring changes called gliosis in part of the brain known as the thalamus.
What Do Tests Show?
Typically the sleep study, or polysomnogram, for fatal familial insomnia will demonstrate an absence of slow-wave sleep. In addition, there will be decreased amounts of stage 2 NREM sleep. Finally, there is dissociated REM sleep without loss of muscle tone.
A routine EEG will show something known as “diffuse slowing” while routine imaging of the head such as CT or MRI will reveal normal brain structure. A PET scan shows decreased glucose metabolism in areas of the brain called the thalamus and putamen. Cognitive testing may show poor attention, disorientation, confusion, or hallucinations. These findings tend to become apparent late in the disease.
Treatment of Fatal Familial Insomnia
Unfortunately, there are few treatment options available for fatal familial insomnia. Medications such as barbiturates and benzodiazepines may be used to induce sleep patterns on EEG. However, the course in fatal familial insomnia is relentless and, as the name implies, ultimately fatal.
If you suspect that you are developing symptoms of this illness, please consult your doctor right away. Although there are no known treatments at present, ones may be in the works.
Source:…More at Fatal Familial Insomnia