Which are the symptoms of Fatal Familial Insomnia?

Symptoms of Fatal Familial Insomnia

Fatal Familial Insomnia (FFI) is an extremely rare and devastating genetic disorder that affects the sleep-wake cycle. It is characterized by progressive insomnia, leading to a complete inability to sleep. FFI is inherited in an autosomal dominant pattern, meaning that if one parent carries the mutated gene, there is a 50% chance of passing it on to their children.

1. Insomnia: The hallmark symptom of FFI is the gradual and relentless onset of insomnia. Initially, individuals may experience difficulty falling asleep or staying asleep, but as the disease progresses, sleep becomes increasingly elusive. Eventually, complete insomnia sets in, and affected individuals are unable to sleep at all.

2. Hallucinations and delirium: As FFI progresses, individuals may experience vivid hallucinations and delirium. These hallucinations can be visual, auditory, or even tactile, and are often described as extremely distressing. Delirium can lead to confusion, disorientation, and impaired cognitive function.

3. Autonomic disturbances: FFI can also cause various autonomic disturbances, affecting the involuntary functions of the body. These disturbances may include fluctuations in blood pressure, heart rate, body temperature, and sweating. As the disease advances, these disturbances can become more pronounced and difficult to manage.

4. Motor abnormalities: Another characteristic symptom of FFI is the development of motor abnormalities. These can include uncoordinated movements, muscle stiffness, tremors, and jerking movements. As the disease progresses, individuals may experience muscle atrophy and loss of motor control.

5. Weight loss and physical deterioration: FFI can lead to significant weight loss and physical deterioration. The inability to sleep and the associated metabolic disturbances can result in a rapid decline in overall health. Individuals may appear emaciated, frail, and weak.

6. Emotional and behavioral changes: FFI can cause profound emotional and behavioral changes. Individuals may become increasingly irritable, anxious, and depressed. Personality changes, mood swings, and social withdrawal are also commonly observed.

7. Progressive dementia: In the later stages of FFI, individuals may develop progressive dementia. Memory loss, cognitive decline, and difficulties with reasoning and problem-solving become evident. This cognitive impairment further exacerbates the already devastating effects of the disease.

8. Death: Unfortunately, FFI is ultimately fatal. The average survival time from the onset of symptoms is around 18 months to 2 years, although the disease progression can vary. Death is usually a result of complications related to the severe sleep deprivation and the overall physical and neurological deterioration caused by FFI.

It is important to note that FFI is an extremely rare condition, with only a few hundred cases reported worldwide. Due to its rarity and the complexity of its symptoms, FFI is often misdiagnosed initially, leading to delays in appropriate management and support for affected individuals and their families.