Fatal insomnia

Fatal familial insomnia (FFI) is a prion disease. It always causes death. Victims will suffer from symptoms that include: severe insomnia (lack of sleep that gets worse), memory loss, hallucinations (seeing/hearing stuff that is not really there), and involuntary muscle twitching or jerking (myoclonus).

 Causes of FFI 
FFI is caused by a change (mutation) in the PRNP gene. This gene makes the prion protein PrPc.       

The gene is inherited in an autosomal dominant pattern (meaning that only one of the mutated gene from a parent is needed to cause the disease). 

 Diagnosing FFI 
FFI can be diagnosed by the following tests:

 Polysomnography (sleep test)
 Genetic Testing: testing that looks for a specific mutation in the PRNP gene
 Brain imaging, such as
 PET scan: shows how well the thalamus in the brain is working
 MRI: shows a detailed image of the brain
 EEG: records brainwave activity to look for abnormalities
 Cerebrospinal Fluid (CSF) analysis: looks at the fluid around the brain and spinal cord

 Treatments for FFI 
Because there is no cure for FFI, treatment is focused on controlling symptoms and decreasing the discomfort of the person with FFI. 

The following are treatments for FFI. 

 Medications for activating deep sleep (gamma-hydroxybutyrate and phenothiazines)
 Drugs such as clonazepam for controlling muscle spasms
 Vitamins such as iron and B6
 Psychosocial therapy
 Hospice care during the last stage of the disease 

 References 

Category:Sleep disorders
Category:Health problems
Category:Genetic disorders
Category:Diseases caused by prions