Fatal familial insomnia (FFI) is a very rare sleep disorder that runs in families. It affects the . This brain structure controls many important things, including emotional expression and sleep. While the main symptom is insomnia, FFI can also cause a range of other symptoms, such as speech problems and dementia. Show
There’s an even rarer variant called sporadic fatal insomnia. However, there have only been 24 documented cases as of 2016. Researchers know very little about sporadic fatal insomnia, except that it doesn’t seem to be genetic. FFI gets its name partly from the fact that it often causes death within a year of two of symptoms starting. However, this timeline can vary from person to person. It’s part of a family of conditions known as prion diseases. These are rare conditions that cause a loss of nerve cells in the brain. Other prion diseases include kuru and Creutzfeldt-Jakob disease. There are only about 300 reported cases of prion diseases each year in the United States, according to Johns Hopkins Medicine. FFI is considered one of the rarest prion diseases. What are the symptoms?The symptoms of FFI vary from person to person. They tend to show up between the ages of 32 and 62. However, it’s possible for them to start at a younger or older age. Possible symptoms of early stage FFI include:
Symptoms of more advanced FFI include:
What causes it?FFI is caused by a mutation of the PRNP gene. This mutation causes an attack on the thalamus, which controls your sleep cycles and allows different parts of your brain to communicate with each other. It’s considered a progressive neurodegenerative disease. This means it causes your thalamus to gradually lose nerve cells. It’s this loss of cells that lead to FFI’s range of symptoms. The genetic mutation responsible for FFI is passed down through families. A parent with the mutation has a 50 percent chance of passing on the mutation to their child. How is it diagnosed?If you think you might have FFI, your doctor will likely start by asking you to keep detailed notes about your sleeping habits for a period of time. They might also have you do a sleep study. This involves sleeping in a hospital or sleep center while your doctor records data about things such as your brain activity and heart rate. This can also help rule out any other causes of your sleep problems, such as sleep apnea or narcolepsy. Next, you may need a PET scan. This type of imaging test will give your doctor a better idea about how well your thalamus is functioning. Genetic testing can also help your doctor confirm a diagnosis. However, in the United States, you must have a family history of FFI or be able to show that previous tests strongly suggest FFI in order to do this. If you have a confirmed case of FFI in your family, you’re also eligible for prenatal genetic testing. How is it treated?There’s no cure for FFI. Few treatments can effectively help manage symptoms. Sleep medications, for example, may provide temporary relief for some people, but they don’t work long term. However, researchers are actively working toward effective treatments and preventive measures. A2016 animal studysuggests that immunotherapy may help, but additional research, including human studies, are needed. There’s also an ongoinghuman studyinvolving the use of doxycycline, an antibiotic. Researches think it may be an effective way to prevent FFI in people who carry the genetic mutation that causes it. Many people with rare diseases find it helpful to connect with others who are in a similar situation, either online or in a local support group. The Creutzfeldt-Jakob Disease Foundation is one example. It’s a nonprofit that provides several resources about prion diseases. Living with FFIIt can be years before the symptoms of FFI start to appear. However, once they start, they tend to get rapidly worse over the course of a year or two. While there’s ongoing research about potential cures, there’s no known treatment for FFI, though sleep aids may provide temporary relief. Fatal insomnia is a rare prion disease that interferes with sleep and leads to deterioration of mental function and loss of coordination. Death occurs within a few months to a few years. (See also Overview of Prion Diseases Overview of Prion Diseases Prion diseases are rare progressive, fatal, and currently untreatable degenerative disorders of the brain (and rarely of other organs) that result when a protein changes into an abnormal form... read more .) Fatal insomnia has two forms:
Fatal familial insomnia and sporadic fatal insomnia differ from other prion diseases Overview of Prion Diseases Prion diseases are rare progressive, fatal, and currently untreatable degenerative disorders of the brain (and rarely of other organs) that result when a protein changes into an abnormal form... read more because they affect predominantly one area of the brain, the thalamus, which influences sleep. In fatal familial insomnia, symptoms may begin in a person's late 20s to the early 70s (average is 40 years). Death usually occurs 7 to 73 months after symptoms begin. The sporadic form begins slightly later, and life expectancy is slightly longer. Symptoms of Fatal InsomniaIn the familial form, early symptoms include minor difficulties falling and staying asleep and occasional muscle twitching, spasms, and stiffness. During sleep, people may move a lot and kick. Eventually, they cannot sleep at all. Later, mental function deteriorates and coordination is lost (called ataxia Coordination Disorders Coordination disorders often result from malfunction of the cerebellum, the part of the brain that coordinates voluntary movements and controls balance. The cerebellum malfunctions, causing... read more ). The heart rate may become rapid, blood pressure may increase, and people may sweat profusely. In the sporadic form, early symptoms include a rapid decline in mental function and loss of coordination. People with this form may not report sleep problems, but sleep studies can detect abnormalities. Diagnosis of Fatal Insomnia
Doctors consider fatal insomnia as a rare possible diagnosis when people have typical symptoms, such as rapidly deteriorating mental function, loss of coordination, and/or sleep problems. The following are done to confirm the diagnosis:
The diagnosis of fatal familial insomnia is confirmed by genetic testing. Treatment of Fatal Insomnia
No treatment is available. Treatment of fatal insomnia focuses on relieving symptoms and making the person as comfortable as possible. Measures to help people sleep have been tried, but the benefits were only temporary. What part of the nervous system is most affected by fatal familial insomnia the spinal cord cerebrum thalamus cerebellum?In FFI, the abnormal prions build up primarily within the thalamus of the brain. This leads to the progressive loss of nerve cells (neurons) and the various symptoms associated with this disorder.
Does FFI destroy the thalamus?In people suffering from FFI, this mutated form of the prion protein accumulates in the thalamus part of the brain, eventually destroys nerve cells there.
Who does fatal familial insomnia affect?Fatal familial insomnia begins at an average age of 50, though cases have been recorded in people as young as 21 and as old as their early 70s. On average, sporadic fatal insomnia symptoms begin at 43 years of age, though they have been documented in people as young as 13 years old.
What thalamic nucleus is preferentially affected in fatal familial insomnia?FFI is characterized by severe thalamic gliosis and neuronal loss in the anterior thalamic nuclei and occasionally in other thalamic and hypothalamic nuclei.
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