Symptoms of FFI

The major symptom of FFI consists of an increasing and debilitating type of insomnia which begins as the common form we can all associate with. However in FFI this insomnia continues to worsen until patients are totally incapable of maintain no more than a few minutes of REM sleep which resembles only a very light dozing or 'stupor' manifestation.

Early stage symptoms associated with FFI include panic attacks, paranoia and phobias. Hallucinations and rapid weight loss become noticeable in latter stages of the disease where the patient loses the complete ability to sleep, finally suffering from acute dementia and becoming unresponsive and mute (hypoviligence) eventually dying due to the complete shutdown of the body.

Basically patients of FFI die from complete exhaustion due the lack of rest supplied only by deep NREM (non-rapid eye movement) sleep, which most of the general population take for granted.

FFI Genetics

Since FFI is an autosomal dominant inherited disorder, a parent has a 50% chance of transferring the gene mutation onto their offspring. What make FFI so deverstating is that the disease only manifests itself after child-bearing years whereby the mother may not know that she has the disease.

Therefore in families suspected of carrying the gene mutation, it is essential that they are tested for the gene mutation (genotyping) as they are then able to make informed decisions about having children. This maybe a necessary albeit a drastic measure of eliminating FFI from the genepool and to future generations.

This image illustrates the genetic transfer of an autosomal dominant mutation. FFI is one such example and characteristically if one parent is affected, there is a 50% chance that the mutation will be transferred to the offspring.

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