By: Researcher Taymur
Understanding Fatal Familial Insomnia
Fatal familial insomnia (FFI) is a very rare family sleep disorder. The thalamus is affected. This brain structure controls many important things, including sleep and emotion. While insomnia is the main symptom, FFI can also cause various other symptoms, including speech and dementia.
A rarer one is called fatal insomnia. There’s even more rare. As of 2016, however, only 24 cases were documented. Researchers have very little knowledge of sporadic fatal insomnia, but it doesn’t appear genetic.
FFI is partially named because, in the first two years of its symptoms, it often causes death. This schedule, however, may vary between persons.
This belongs to a class of disorders called prion diseases. These conditions are rare and cause nerve cell loss in the brain. Kuru and Creutzfeldt-Jakob disease are also prion diseases. According to Johns Hopkins Medicine, there are only approximately 300 reported prion disease cases every year in the United States. One of the rare prion diseases is FFI.
Understanding Fatal Familial Insomnia Symptoms
The FFI signs vary between individuals. Because they appear between 32 and 62 years of age. Nonetheless, at younger or older age it is possible for them to start.
Early stage FFI symptoms may include:
- because loss of appetite
- so rapidly progressing dementia
- therefore trouble falling asleep
- because muscle stiffness
- so trouble staying asleep
- because muscle twitching and spasms
- however movement and kicking when sleeping
Advanced stage FFI symptom may include:
- because inability to sleep
- so trouble speaking or swallowing
- therefore unexplained weight loss
- because deteriorating cognitive and mental function
- so excessive sweating
- because fever
- therefore loss of coordination, or ataxia
- so increased blood pressure and heart rate
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Understanding Fatal Familial Insomnia Causes
The mutation of the PRNP gene is responsible for the FFI. This mutation triggers a thalamus assault that regulates your sleep cycles and enables various parts of your brain to interact.
Therefore it is a gradual neurodegenerative disease. Because it results in your thalamus losing nerve cells gradually. However it is this cell loss that contributes to the symptoms of FFI.
Families share the genetic mutation that is responsible for FFI. A mutation parent has a 50% likelihood of transmitting the transmission to the son.
Understanding Fatal Familial Insomnia Diagnoses
You will probably start by asking your physician to keep details of your sleep habits for a certain period if you believe you have an FFI. You could also do a study of sleep. This involves sleep in a hospital or a sleep center, while your doctor records information on things like your brain and cardiac activity. This can also help to exclude any other causes such as sleep apnea or narcolepsy.
First, a PET scan might be required. This kind of imaging test gives your doctor a better idea of how your thalamus works.
Genetic tests can also help to confirm a diagnosis for your doctor. You need to have an FFI family history in the United States, however, or you must be able to demonstrate that past tests strongly suggest FFIs to do that. You are also eligible for prenatal genetic testing if you have a confirmed FFI case in your family.
Understanding Fatal Familial Insomnia Treatments
No FFI cure is available. Few treatments can assist with symptoms effectively. For example, sleep medicines may provide some people with temporary relief, but it does not work long-term.
Researchers are working actively on effective therapy and preventive action. A Trusted Source 2016 animal study suggests that immunotherapy may be helpful but further work, including human studies, is needed. A trusted source involving the use of doxycycline, an antibiotic, is also a continuing human study. Studies believe that FFI can be an effective way of preventing the genetic mutation in individuals who carry FFI.
Therefore many people with rare diseases find it helpful, either on-line and in a local support group, to connect with others in a similar situation. Because another example of this is the Creutzfeldt-Jakob Disease Foundation. So it provides various resources about prion diseases. Because it is non-profit.
The FFI signs can be seen years ago. But once they start, over the course of one or two years they continue to get much worse. Although work on possible therapies is underway, FFI remedies are not identified, although sleep aids could provide temporary relief.
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