Sporadic fatal insomnia

Get in touch with RARE Concierge.

Contact RARE Concierge

Sporadic fatal insomnia

A rare sporadic human prion disease characterized by adult onset of progredient neurodegeneration presenting as a combination of psychiatric sleep and oculomotor disturbances with development of progressive cognitive impairment (the predominantly affected cognitive domains being memory temporal and/or spatial orientation language executive functions and attention) postural instability and sometimes additional motor abnormalities and autonomic hyperactivity in the course of the disease. Bilateral thalamic hypometabolism on FDG-PET imaging and positive prion seeding activity in the cerebrospinal fluid are present in many cases. The disease is fatal within typically two to three years.

Data from Orphanet are used to provide information on a disease's name, synonym(s), and overview.

Reference: Access aggregated data from Orphanet at Orphadata.

Orphadata: Free access data from Orphanet. © INSERM 1999. Available on http://www.orphadata.org. Data version April 2024

Newly diagnosed with
Sporadic fatal insomnia?

Our RARE Concierge Services Guides are available to assist you by providing information, resources and connections as you navigate your rare disease journey.

Get Concierge Help

Advocacy Organizations

Clinical Trials

For a list of clinical trials in this disease area, please click here.