New Delhi: Recent footage has brought to light the harrowing reality of fatal familial insomnia (FFI), a rare and progressive genetic disorder. This condition, which leads to severe sleep deprivation, is characterized by a gradual onset of symptoms that intensify over time. The footage showcases the debilitating effects of FFI, underscoring its impact on those affected and the severity of this largely misunderstood disease.What is fatal familial insomniaFatal Familial Insomnia (FFI) is a genetic degenerative brain disorder marked by profound sleep disturbances. The condition begins with subtle difficulties in sleeping, which worsen progressively. As the disorder advances, individuals experience total insomnia, referred to as agrypnia excitata. This lack of sleep is accompanied by severe symptoms such as speech impairments, problems with coordination and cognitive decline. The condition is fatal, leading to death within a few months to several years after symptoms onset.Watch video: Footage shows a man suffering from fatal familial insomnia, a rare genetic disorder causing progressive sleep loss. The condition begins gradually and worsens, leading to complete insomnia, speech and coordination problems, and sometimes even dementia. It usually results in death… pic.twitter.com/v6UYCxC4Gi— Morbid Knowledge (@Morbidful) September 5, 2024Who is affected by FFIFFI primarily affects individuals who inherit a specific genetic mutation from one of their parents. This disorder is autosomal dominant, meaning that inheriting just one copy of the mutated gene is sufficient to develop the condition. Consequently, families with a history of FFI are at higher risk. In extremely rare instances, FFI may occur in individuals without a family history of the disorder due to a new genetic mutation (de novo mutation).Prevalence of fatal familial insomniaFatal Familial Insomnia is exceedingly rare, affecting approximately 1 to 2 people per million globally. Since FFI is a genetic condition, it is present in about 50 to 70 families worldwide who carry the mutation responsible for the disorder.Impact on the bodyFatal Familial Insomnia targets the brain and central nervous system. The condition results from a genetic mutation that causes abnormal protein accumulation in the thalamus, the brain region responsible for regulating sleep and other essential functions. The primary and most severe symptom is persistent insomnia, which disrupts both mental capabilities and bodily functions. As the disorder progresses, symptoms become increasingly life-threatening.
