Fatal Familial Insomnia Definition, Reason, Symptoms, Treatment & Prevention

Understanding

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 primarily affects the thalamus, the part of the brain that controls sleep cycles. This area 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. Loss of neurons in the thalamus and other mechanisms that are not fully understood in this disease are factors that contribute to the signs and symptoms of fatal familial insomnia.

Early signs and symptoms of fatal familial insomnia usually first appear in middle age and can include progressive insomnia, weight loss, decreased appetite, and body temperature that is too high or too low. It can also occur progressive dementia.

Symptoms

Signs and symptoms of fatal familial insomnia often appear in middle age. However, this condition can occur at any age.

Insomnia, or trouble sleeping, isn’t always the first symptom you experience. Sometimes, the first symptom experienced is progressive dementia. Insomnia generally starts suddenly and gets worse slowly.

Other signs and symptoms that can occur are panic attacks, phobias, weight loss, decreased appetite, and body temperatures that are too high or too low. In addition, high blood pressure, episodes of hyperventilation, excessive sweating or drooling, and/or erectile dysfunction may occur.

As the disease progresses, most people with fatal familial insomnia experience uncoordinated abnormal movements (ataxia), hallucinations, severe confusion (delirium), and muscle contractions. Dementia generally starts with forgetfulness and confusion, and can then be followed by difficulty walking and talking. Difficulty sleeping at all is also quite common in the late phase of the disease.

Reason

Fatal familial insomnia is a relatively rare type of prion-induced genetic disease. In almost every case, a specific mutation is found in the PRNP gene, which causes the prion protein formed by that gene to take on a different shape.

Because of their different shapes, these proteins cannot function properly. The protein causes changes in the thalamus, including progressive loss of nerve cells.

The thalamus plays a role in the regulation of sleep cycles, the flow of visual, auditory and motor information, balance, personality, emotional experience, memory, speech and language comprehension. Therefore, the reduced number of neurons in the thalamus can cause various symptoms due to a decrease in these functions.

Diagnosis

The diagnosis of fatal familial insomnia can be determined based on medical interviews, physical examinations, and certain investigations. In the process of determining the diagnosis, it can be observed from dementia or progressive cognitive impairment, accompanied by changes in mood or behavior, impaired movement coordination, and sleep disturbances.

Investigations that can be carried out include sleep examinations or sleep studies and positron emission tomography (PET) to evaluate the activity of the thalamus in the brain. In addition, genetic testing can also be used to confirm the diagnosis, although this is rarely done.

Treatment

The goal of treatment for fatal familial insomnia is to relieve complaints and increase comfort in individuals with this condition. However, various studies are being conducted and several treatments that can potentially treat the condition are being developed. Currently, there are several types of treatment that show success in slowing the progression of the disease.

Prevention

There is no method that has been proven to be completely effective in preventing fatal familial insomnia.