Fatal Insomnia is a prion disease with symptoms including insomnia, mental deterioration, and loss of coordination. It predominantly affects the thalamus. Fatal Familial Insomnia (FFI) is inherited. Sporadic Fatal Insomnia (SFI) occurs spontaneously.
Typical early symptoms: severe insomnia that continues to worsen, accompanied by ataxia (inability to coordinate movements) and mental confusion.
Dementia and weight loss increase over time.
May also include excessive sweating, unsteady gait, jerky eye movements, double vision, dysarthria, high blood pressure, hyperventilation, excessive tearing, hallucinations, panic.
Generally genetic (with rare cases of Sporadic Fatal Insomnia)
At least 25 known families, rarest genetic prion disease
Mid-life, typically 30s, 40s, 50s
Clinical examination, family history, genetic testing, polysomnography (sleep study) and positron emission tomography, spinal fluid testing (RT-QuIC). Fatal Insomnia, particularly sFI, is confirmed by autopsy. (Contact the CJD Foundation for specifics).
