This Rare Type of Genetic Insomnia Could Cause Death
Fatal familial insomnia or FFI is not like any other insomnia condition. It is a rare condition that, according to medical experts, runs in the family.
This ailment affects mainly the thalamus, the brain structure that regulates many things such as expression of emotion and sleep.
While FFI has similar symptoms to the more common type, it can lead to a range of other symptoms, including dementia and speech disorders.
Previous studies found an even rarer variant, also known as sporadic fatal insomnia. Only 24 cases have been documented as of 2016. More so, scientists have known only a few sporadic fatal insomnia cases, except that it does not appear to be genetic.
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Fatal familial insomnia is not an ordinary 'insomnia condition.' It is a rare condition that, according to medical experts, runs in the family
Why the It's Called FFI
FFI got its name partly from the fact that the condition frequently causes death within one year from the first appearance of symptoms. However, this timeline could differ from one person to another.
FFI is found to belong to a family of conditions called "prion diseases." These are rare or unusual conditions that lead to the loss of nerve cells in the brain.
According to Johns Hopkins Medicine, there are roughly 300 reported cases of prion diseases every year in the United States.
According to those who have studied the condition, FFI is considered to be one of the rarest occurrences of prion diseases.
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What are the Causes and Symptoms of FFI?
As earlier mentioned, FFI symptoms vary from one person to another. They tend to appear in individuals whose age ranges from 32 to 62 years old.
For early-stage FFI, one can experience trouble falling or staying asleep, spasms, loss of appetite, and fast-developing dementia.
Those suffering from advanced FFI may experience an inability to sleep, weakening mental and cognitive function, excessive sweating, high blood pressure, fever, and difficulty speaking and swallowing.
Medical research indicates that FFI results from a mutation of the PRNP gene. Such a mutation leads to an attack on or damages the thalamus, which controls the sleep cycles and enables the different bran parts to interact.
Experts say that the genetic mutation which is responsible for fatal familial insomnia is passed on through families. For instance, a parent with the said genetic mutation has a half-a chance of passing it on to his child.
Is There a Treatment for FFI?
Experts say FFI has no cure, although few treatments can efficiently help alleviate symptoms. For instance, sleep medications may provide momentary relief for some patients, but they are not effective for long-term use.
Researchers have actively been working to find treatments and preventive measures that will work. An animal study conducted in 2016 recommended that immunotherapy may contribute to treating FFI, although additional research and human trials are needed.
In 2018, researchers conducted a human study, which involved the use of the antibiotic doxycycline.
The study authors thought antibiotics might be an effective way to prevent the occurrence of FFI in individuals who were carrying the genetic mutation that leads to the condition.
A lot of people who have rare conditions like FFI find it beneficial to connect with other individuals in the same situation they are in, be it online or in other local support groups like the nonprofit Creutzfeldt-Jakob Disease Foundation, for one.
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Sep 25, 2020 07:20 AM EDT
