Genetic Disorder
Fatal familial insomnia (FFI) is an exceedingly rare genetic disorder that leads to severe sleep disturbances, dementia, and involuntary muscle twitching.
This neurodegenerative prion disease progressively worsens over time, with no known cure. While there is no treatment to eliminate the disease, symptoms can be temporarily slowed with medical interventions, though this only provides brief relief, as per Cleveland Clinic.
FFI affects approximately one to two individuals per million people annually, according to data from the National Organization for Rare Disorders.
The condition is inherited, passed from parent to child, with between 50 and 70 families worldwide believed to carry the genetic mutation responsible for the disorder.
The root cause of FFI lies in a mutation in the PRNP gene, which leads to the production of abnormal prion proteins. These prions, which are misfolded versions of normal proteins, accumulate in the body, particularly in the brain.
The unusual shape of these prions is toxic to cells, most notably neurons. The thalamus, a crucial part of the brain responsible for regulating body functions such as sleep, temperature, and appetite, is particularly affected. This damage to the thalamus is central to the progression of FFI.
Inheriting just one copy of the mutated PRNP gene from a parent is sufficient to develop the disease. However, in some rare cases, individuals may develop the mutation without a family history of FFI, and they can then pass the mutation on to their children.
The hallmark symptom of FFI is insomnia. Those afflicted struggle to fall asleep or stay asleep, and over time, the condition worsens to the point where individuals cannot sleep at all.
Other symptoms include severe memory loss, high blood pressure, hallucinations, involuntary muscle jerking or twitching, excessive sweating, and a loss of coordination and concentration.
While the onset of these symptoms typically occurs around the age of 40, they can also appear in people as young as their 20s or as late as their 70s.
As the disease progresses, patients eventually enter a coma-like state, and death typically follows within nine to 30 months after the onset of symptoms.
Unfortunately, despite the lack of a cure, the medical community continues to research FFI, hoping to find more effective treatments in the future.
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