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Tests For Fatal Familial Insomnia
Genetics: This is a very rare, progressive inherited fatal brain disease that presents in adulthood but can be tested for earlier. It kills w/in a few years or less and progresses through 4 stages. Here's info: https://en.wikipedia.org/wiki/Fatal_familial_insomnia It's not considered treatable - but some can find ways to live a bit better and longer. I wish you well. ...Read more
FFI is a very rare : genetic neurodegenerative disorder caused by a mutant prion protein gene on Chromosome 20p13. Each child of a parent with FFI has a 50% chance of inheriting it. Mis-folded prion protein "spreads" in the thalamus, the brain area that controls sleep-wake cycles, progressively damaging neurons there. www.cureffi.org/2012/12/03/introduction-to-fatal-familial-insomnia/ explains symptoms & prognosis. ...Read more
Familial Insomnia: Fatal familial insomnia is a human prion disease -- rare, transmissible, invariably fatal neurodegenerative disease with accumulation of a misfolded host protein (prion) in brain tissue. Symptoms: disrupted sleep w/daytime sleepiness; autonomic dysfunction; motor problems like myoclonus, ataxia, dysarthria, dysphagia, and pyramidal signs. Patient develops progressive dementia w/psychosis too.. ...Read more
See below: It cannot be done over this site. It is a rare prion disease that is usually inherited. Progressive insomnia, paranoia, hallucinations, and dementia are part of this condition. If you are concerned about it, it is recommended you consult your physician to go over a detailed history and examination to properly evaluate your symptoms. Hope that helps! ...Read more
Hi Doctors. How do I know if I have a neurological disorder like sporadic fatal familial insomnia?
Gene testing: Sffi is an exceedingly rare disease with both sporadic and genetic inheritance in an autosomal dominant pattern. Even if one of your parents had it you still only have a 50% chance of getting the gene that makes the mutated protein. The only reason to get testing done is if you are considering children and there is a possibility you might have it as there is no treatment ...Read more
What does it mean if a person have lacrimation problems with fatal familial insomnia or sporadic fatal insomnia?
Lacrimation problems: Early in familial or sporadic fatal insomnia, a person may experience altered attentiveness, trouble initiating sleep, and periods of high fever, sweating, salivation, and lacrimation. This is excessive lacrimation rather than inability to weep tears. There are also uncoordinated movements, myoclonus, and hyperreflexia on neuro exam. Lacrimation is not the center of this syndrome. ...Read more
If a person has fatal familial insomnia or sporadic fatal insomnia can that person ever go in to rem-sleep? Or does they directly go to rem-sleep?
No REM sleep: That is why these patients have problems. ...Read more
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