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arifonfire28
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2025-06-06 04:00:44
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Fatal familial insomnia is a very rare and invariably fatal autosomal dominant neurodegenerative prion disease caused by a mutation of the prion protein (PRNP) gene.  Hallmarks of the disease include aggressively progressive insomnia, subsequent autonomic disturbances, including tachycardia, hyperhidrosis, and hypertension, cognitive disturbances including deficits in short-term memory and attention, balance problems, and endocrine dysfunction.  The disease is currently incurable and has an average duration of 18 months, ultimately leading to death. This activity describes the pathophysiology, presentation, and management of fatal familial insomnia and highlights the role of the interprofessional team in the care of affected patients and families. Fatal familial insomnia (FFI) is a remarkably rare and invariably fatal inherited neurodegenerative prion disease. The mode of inheritance of this disease is autosomal dominant and involves a mutation of the prion protein (PRNP) gene.  Aggressively progressive insomnia, with subsequent autonomic (tachycardia, hyperhidrosis, hypertension), cognitive (short-term memory and attentional deficits), motor system (balance problems), and endocrine dysfunction are a hallmark of the disease. The disease is currently incurable and has a mean course of 18 months, ultimately leading to death.  The earliest description of the disease dates back to 1765 with a report of an Italian man with symptoms suggestive of FFI. The disease was formally identified and clinically described in 1986 by Lugaresi E. et al., followed by subsequent studies, further describing its pathophysiology, etiology, and clinical course.  Genetic prion diseases are very rare. Annually, there are 1 to 1.5 new cases of genetic and non-genetic prion diseases per one million people. Genetic forms of prion disease constitute approximately 10% of the total cases of prion diseases. FFI is exceptionally rare with the disease-causing mutation found in around 50 families worldwide.  Patients with fatal familial insomnia (FFI) most commonly present between the ages of 20 and 61 years with a mean of 50 years and it affects males and females equally.  #fyp #fypシ #FFI #fatalfamilialinsomnia #insomnia #disturbing #1990s #horror #scary #camcorder
Fatal familial insomnia is a very rare and invariably fatal autosomal dominant neurodegenerative prion disease caused by a mutation of the prion protein (PRNP) gene. Hallmarks of the disease include aggressively progressive insomnia, subsequent autonomic disturbances, including tachycardia, hyperhidrosis, and hypertension, cognitive disturbances including deficits in short-term memory and attention, balance problems, and endocrine dysfunction. The disease is currently incurable and has an average duration of 18 months, ultimately leading to death. This activity describes the pathophysiology, presentation, and management of fatal familial insomnia and highlights the role of the interprofessional team in the care of affected patients and families. Fatal familial insomnia (FFI) is a remarkably rare and invariably fatal inherited neurodegenerative prion disease. The mode of inheritance of this disease is autosomal dominant and involves a mutation of the prion protein (PRNP) gene. Aggressively progressive insomnia, with subsequent autonomic (tachycardia, hyperhidrosis, hypertension), cognitive (short-term memory and attentional deficits), motor system (balance problems), and endocrine dysfunction are a hallmark of the disease. The disease is currently incurable and has a mean course of 18 months, ultimately leading to death. The earliest description of the disease dates back to 1765 with a report of an Italian man with symptoms suggestive of FFI. The disease was formally identified and clinically described in 1986 by Lugaresi E. et al., followed by subsequent studies, further describing its pathophysiology, etiology, and clinical course. Genetic prion diseases are very rare. Annually, there are 1 to 1.5 new cases of genetic and non-genetic prion diseases per one million people. Genetic forms of prion disease constitute approximately 10% of the total cases of prion diseases. FFI is exceptionally rare with the disease-causing mutation found in around 50 families worldwide. Patients with fatal familial insomnia (FFI) most commonly present between the ages of 20 and 61 years with a mean of 50 years and it affects males and females equally. #fyp #fypシ #FFI #fatalfamilialinsomnia #insomnia #disturbing #1990s #horror #scary #camcorder

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