Rare fatal diseases list
Fatal familial insomnia (FFI) is a type of genetic prion disease, also known as a transmissible spongiform encephalopathy (TSE). Prion diseases are progressive, neurodegenerative disorders that may affect humans and animals. The first symptoms of FFI usually begin in mid-life and may include insomnia that worsens over time and vivid dreams when sleep is achieved. These symptoms may be followed by high blood pressure; episodes of hyperventilation; excessive tearing; and/or sexual and urinary tract dysfunction. Other nervous system abnormalities then follow, and affected people develop ataxia (loss of muscle control) over a period of months. FFI usually leads to death within a few months to a few years. Genetic prion diseases are inherited in an autosomal dominant manner and may be caused by mutations in the gene. Treatment aims at alleviating symptoms when possible.
Last updated: 7/3/2014
- Fatal Familial Insomnia. Online Mendelian Inheritance in Man (OMIM). 2010; Accessed 7/26/2010.
- Prion disease. Genetics Home Reference (GHR). 2007; Accessed 7/26/2010.
- James A Mastrianni. Genetic Prion Diseases. GeneReviews. January 2, 2014; Accessed 7/3/2014.
September benefit targets rare disorder in infants.(Health and Fitness)(Congenital adrenal hyperplasia can be managed, but early detection is the key ... article from: The Register-Guard (Eugene, OR)
Book (The Register Guard)