Fatal familial insomnia is a prion disease, or a type of protein that can cause other proteins in the brain to become abnormal. It is genetically inherited and mainly affects the thalamus, which is the part of the brain that controls the sleep cycle. This part is also known as the relay center of the brain because it helps other parts of the brain to communicate with each other.
Like all prion diseases, fatal familial insomnia is a progressive neurodegenerative disease. That is, the number of nerve cells will decrease over time. The loss of neurons in the thalamus as well as other mechanisms not yet fully understood from the disease are the factors that cause the onset of signs and symptoms of fatal familial insomnia.
Fatal Familial Insomnia Symptoms
Signs and symptoms of fatal familial insomnia often arise in middle age. However, this condition can occur at any age.
Insomnia, or difficulty sleeping, is not always the first symptom experienced. Sometimes, the first symptom experienced is progressive dementia. Insomnia generally arises suddenly and becomes worse slowly.
Other signs and symptoms that can arise are panic attacks, phobias, weight loss, decreased appetite, and body temperature that is too high or too low. In addition, there can also be high blood pressure, hyperventilating episodes, excessive sweating or drooling, and/or ere**ctile dysfunction.
Along with the increasing progression of the disease, most people with fatal familial insomnia experience abnormal uncoordinated movements (ataxia), hallucinations, severe confusion (delirium), as well as muscle contractions. Dementia generally begins with easy forget and confusion, and can then also be followed by difficulty walking and talking. Difficulty sleeping at all is also quite often observed in the final phase of the disease.
Symptoms that may occur in early stage FFI include:
- Difficulty sleeping
- Difficulty staying asleep
- Muscle twitching and convulsions
- Muscle stiffness
- Movement and kicking while sleeping
- Loss of appetite
- Rapidly growing dementia
Meanwhile, further symptoms of FFI include:
- Inability to sleep
- Deterioration of cognitive and mental functions
- Loss of coordination, or ataxia
- Increased blood pressure and heart rate
- Excessive sweating
- Difficulty speaking or swallowing
- Unexplained weight loss
Fatal Familial Insomnia Causes
FFI is caused by a mutation of the PRNP gene. This mutation causes an attack on the thalamus, which controls your sleep cycle and allows different parts of your brain to communicate with each other.
It is considered a progressive neurodegenerative disease. This means causing your thalamus to gradually lose nerve cells. This loss of cells that causes various symptoms of FFI.
The genetic mutation that causes FFI to be passed down through the family. Parents with mutations have a 50 percent chance of passing the mutation on to their child.
Bad Effects Of Insomnia
Fatal Familial Insomnia Diagnosis
If you think you may be suffering from FFI, your doctor will likely start by asking you to make detailed notes about your sleep habits for a period of time. They may also ask you to do a sleep study. This involves sleeping in a hospital or a sleep center while your doctor records data on things like your brain activity and heart rate. It can also help get rid of other causes of your sleep problems, such as sleep apnea or narcolepsy.
Next, you may need a PET scan. This type of imaging test will give your doctor a better picture of how well your thalamus functions.
Genetic tests can also help your doctor confirm a diagnosis. However, in the United States, you must have a family history of FFI or be able to show that previous tests strongly advised FFI to do this. If you have a confirmed case of FFI in your family, you are also eligible for prenatal genetic testing.
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