Fatal Familial Insomnia: Causes, Symptoms and Treatment

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We all are well aware of the importance that sleeping holds in our life. It is not only important for our daily sustenance but without proper sleep, the body and the mind soon start to degenerate. The main threat to a person suffering from insomnia comes from the fact that unchecked insomnia has led to deaths in multiple cases, therefore, it becomes a necessity for all to look into all possible treatments and not to delay their visit to the doctor. Fatal familial insomnia is one of the broad categorical forms of insomnia that is inherited by the patient from the family elders. Familial insomnia is a result of some genetic mutation during birth which may be caused by suffering parents whose mutated genes may lay dormant but have activated in the body of the offspring.

Fatal familial insomnia is generally understood to be a change in the protein cell of the body namely cellular prion protein cell. This prion disease mainly affects the thalamus located in the back of the brain that controls the sleep and wake cycle of the body completely distorting its functioning ability. Like all prion diseases, familial insomnia is also a neurodegenerative disease that attacks the neurons and over time completely damages the nervous system of the body as well. In the recent scenario, there is no possible treatment of familial insomnia though studies and researches are still working their way towards finding an effective cure. The most shocking and heart-wrenching fact associated with this disease is that it leads to death within 12-18 months from the occurrence of the first symptom.

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A Guide for Fatal Familial Insomnia

fatal familial insomnia

What are the causes of familial insomnia?

Over the years many studies and researches have been conducted and only one answer comes forth for the cause of familial insomnia. Fatal familial insomnia is caused due to inheritance and mutation in the genes hence its name. The PrP cells damage the thalamus eventually obstructing the conceptive ability of the brain to understand the need for a sleeping cycle. The thalamus commonly known as the relay centre of the brain fails to communicate and send messages to the other parts of the body and that can be seen in the form of poor hand mind coordination. The medulla oblongata of the body is also distorted as a result of the affect insomnia has on the thalamus. Continuously losing the neurons of the body makes recovery an unachievable option for many.

In a few cases, the reason behind fatal familial insomnia is sporadic and the cause is PRNP gene of the body. In this disease, the protein cells of the body automatically change into abnormal shapes and lead to distortion of the mental activity at times leading to memory loss, speech problems and no control over the bowel movement of the body.

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What are the symptoms of fatal familial insomnia?

Every disease shows certain symptoms to warn the people of its onset and the need to visit the doctor is also highlighted. Fatal insomnia too has many symptoms that help in the detection and treatment of the disease. Some of the most noticeable symptoms of fatal insomnia are;

  • Trouble falling asleep: During the earlier stages of the disease, the patient has trouble in falling asleep and may keep on twisting and turning unable to fall asleep.
  • An extremely disturbed sleep in another symptom of FFI and the patient cannot stay asleep for long duration of time. The sleep is rather unsteady and causes restless and irritation in the patient.
  • As the disease progresses the condition of the neuron cells keeps on deteriorating and the body movements also suffer. This leads to continuous muscle spasms and cramping in the body.
  • Loss of appetite
  • Rapidly progressing dementia because of the continuous degeneration of the brain and the adverse effect it has on the thalamus and the medulla oblongata.

When fatal familial insomnia progresses to an advanced stage it leads to serious mental and physical troubles in the sufferer. Some of which are;

  • Deteriorating mental and cognitive ability of the brain
  • Increased blood pressure and heart rate
  • Trouble in speaking and swallowing food
  • Rapid weight loss as a result of no appetite
  • Constant fever and high body temperature
  • Excessive sweating in the body
  • Severe form of Ataxia

These were some of the most recurrent symptoms that can assist the doctors in not only diagnosing the disease but also determine the speed of progression of the disease.

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How can one treat the possibility of fatal familial insomnia?

Doctors can easily detect the presence of this disease in the body of the patient through positron emission tomography and polysomnography even then there is no set treatment for the disease of insomnia and one cannot give any medicine that can claim to completely cure the disease. Familial insomnia though can be diagnosed easily as a result of its multiple symptoms, yet there is no guaranteed for the same. Many types of research and studies are being carried out to find a cure for the disease. Medicines can only be prescribed to the patient that merely helps them manage the symptoms. For example, sleep medicines can be given for lack of sleep which may provide temporary relief to the patient. In an experiment in the lab, it was observed that immune therapy may help the patient in gaining slight normalcy yet it cannot completely cure them.

 Even though there is no known cure for the disease, one must never give up home and look into all possible treatments be it acupuncture or Ayurveda treatment. It is always advisable that if anyone is diagnosed of this rare disease they must search for a specialist to get the best results and an elongated lifespan. Thus, this was a deep outlook in regards to the fatal disease of familial insomnia.

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Reference

https://www.msdmanuals.com/home/brain,-spinal-cord,-and-nerve-disorders/prion-diseases/fatal-insomnia

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