2024-01-25 20:45:00
Fatal familial insomnia is an extremely rare and fatal disease. There is no treatment option. What is known about the disease.
There are diseases that are so rare that you have never heard of them. But that doesn’t make them any less scary – quite the opposite. This category also includes fatal familial insomnia, also known as fatal familial insomnia.
The “mountain doctor” Martin Gruber (played by Hans Sigl) also had to deal with this rare disease. But what exactly is behind the deadly disease?
What exactly is fatal familial insomnia?
Fatal familial insomnia is a rare, genetic neurodegenerative brain disease that leads to serious sleep disorders. It is caused by a mutation in the so-called PRNP gene (prion protein gene). Prions are abnormal proteins that tend to deform and disrupt the function of healthy proteins. These abnormal proteins accumulate in the brain of those affected and lead to neurodegenerative symptoms.
What are neurodegenerative diseases?
Neurodegenerative diseases involve a loss of structure or function of nerve cells in the brain or peripheral nervous system. This process often has a chronic and progressive course.
Fatal familial insomnia is a form of transmissible spongiform encephalopathy (TSE), which also includes Creutzfeldt-Jakob disease (CJD, known in animals as BSE). It is estimated that around 50 to 70 families worldwide carry the mutated gene. Cases are also known in Germany and Austria.
Which symptoms are typical?
The symptoms of fatal familial insomnia usually appear in adulthood, on average around 50 years of age. These include:
- Sleep disorders: Those affected suffer from serious sleep disorders that worsen over time. If the disease is advanced, deep sleep phases no longer occur.
- Psychiatric symptoms: Psychological symptoms may also occur as the disease progresses, including hallucinations, paranoia, anxiety, and other behavioral changes.
- Autonomic dysfunction: Autonomic nervous system function is impaired, which can lead to things like unstable heart rates, blood pressure problems, and excessive sweating.
- Motor impairment: Coordination of movements may be impaired, leading to accidents, falls, and other motor problems.
Early in the onset of the disease, symptoms may resemble those of Alzheimer’s. In any case, those affected should consult a doctor.
How is the disease treated?
Fatal familial insomnia cannot be cured and leads to death in all cases. Once it breaks out, those affected have a few months to two years left. In some cases death occurs suddenly, in others the disease progresses until a so-called apallic syndrome – also known as vegetative state – occurs. Affected patients then die due to the serious damage to the brain and nervous system, and often also from secondary diseases such as pneumonia.
Since there is currently no cure for fatal familial insomnia, only the symptoms of the disease are treated, not the cause. Drugs that promote sleep are often administered, but these are usually no longer effective in later stages. In many cases, those affected receive end-of-life care in a hospice.
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