Fatal Familial Insomnia (FFI) is a rare and devastating genetic disorder that primarily affects the central nervous system, leading to progressive and eventual total sleeplessness. It is classified as a prion disease, caused by an inherited mutation in the PRNP gene.
Characterized by a gradual and irreversible deterioration of the sleep-wake cycle, FFI typically begins with mild and intermittent sleep disturbances, such as difficulty falling asleep or staying asleep. Over time, these disruptions worsen, resulting in a complete inability to sleep. However, FFI affects more than just sleep, as it also impacts various neurological functions. Patients with FFI often experience a plethora of cognitive, motor, and autonomic dysfunctions.
As the disease progresses, individuals may develop hallucinations, delusions, and severe cognitive decline, leading to dementia. Additionally, uncontrollable movements, akinetic mutism (inability to move or speak), and severe autonomic dysfunction may manifest in later stages. Most tragically, FFI is ultimately fatal, with a median survival time of about 18 months from the onset of symptoms.
Due to the genetic nature of FFI, it is primarily inherited from one generation to another, with approximately 50% of children of affected individuals inheriting the disorder. Diagnosis is challenging, and typically relies on a combination of clinical evaluation, genetic testing, sleep studies, and ruling out other possible causes.
Unfortunately, there is no known cure for FFI. Management of symptoms generally involves palliative care and providing comfort to patients and their families as they progress through the devastating stages of this incurable condition.
