Fatal familial insomnia
A rare inherited human prion disease characterized by adult onset of progressive disturbance and loss of circadian rhythms dysautonomia with increased sympathetic activity and cognitive impairment with fluctuating vigilance impaired long-term memory disorientation and oneiric states. Motor disturbances include myoclonus cerebellar ataxia and pyramidal signs. The disease rapidly leads to a somnolent or comatose state and is typically fatal after 9 or 30 months on average (bimodal course). Neuropathologic examination shows marked neuronal loss and gliosis predominantly in thalamic nuclei and inferior olives while deposition of abnormal prion protein may be relatively sparse.
Data from Orphanet are used to provide information on a disease's name, synonym(s), and overview.
Orphadata: Free access data from Orphanet. © INSERM 1999. Available on http: //www.orphadata.org. Data version September 2023.
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Fatal familial insomnia?
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Genetic Support Network of Victoria
The Genetic Support Network of Victoria is an organisation that supports people living with genetic, undiagnosed and rare conditions and those who support them including community and families, patient support organisations, health professionals and industry. Our vision is our community flourishing and living their best lives.
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Childhood Dementia Initiative
Childhood Dementia Initiative (CDI) is driving world first action in the consideration of the 70+ genetic conditions that cause childhood dementia under the one umbrella.
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Curing single-gene disorders
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