On Mystery Diagnosis: Most Shocking Cases, the most shocking real-life medical mysteries that left even the most seasoned specialists baffled are profiled.
Runtime: 60 minutes
Mystery Diagnosis: Most Shocking Cases - Fatal insomnia - Netflix
Fatal insomnia is an extremely rare sleep disorder which is typically inherited and results in death within a few months to a few years after onset. The main symptom is insomnia, but the disease can also cause a range of other symptoms, such as speech and physical coordination problems and dementia. It is a prion disease of the brain, and is almost always caused by a mutation to the protein PrPC. It has two forms. In the autosomal dominant inherited form, it is called fatal familial insomnia (FFI). It can also develop spontaneously as a noninherited mutation variant called sporadic fatal insomnia (sFI). The first recorded case was an Italian man, who died in Venice in 1765. Fatal insomnia has no known cure and involves progressively worsening insomnia, which leads to hallucinations, delirium, confusional states like that of dementia, and eventually, death. The average survival time for patients diagnosed with FFI after the onset of symptoms is 18 months. The mutated protein, called PrPSc, has been found in just 40 families worldwide, affecting about 100 people. If only one parent has the gene, the offspring have a 50% risk of inheriting it and developing the disease. With onset usually around middle age, potential patients must be tested if they wish to avoid passing FFI on to their children.
Mystery Diagnosis: Most Shocking Cases - Treatments and research - Netflix
Sleeping pills and barbiturates have not been found to be helpful; on the contrary, in 74% of cases, they have been shown to worsen the clinical manifestations and hasten the course of the disease. In 2009, a mouse model was made for FFI. These mice expressed a humanized version of the PrP protein that also contains the D178N FFI mutation. These mice appear to have progressively fewer and shorter periods of uninterrupted sleep, damage in the thalamus, and early deaths, similar to humans with FFI. As of 2016, studies are investigating whether doxycycline may be able to slow or even prevent the development of the disease.
Mystery Diagnosis: Most Shocking Cases - References - Netflix