You may have been a little confused when you heard the name of this disease, thinking, "What is this strange disease?" Creutzfeldt-Jakob disease, or CJD (Creutzfeldt-Jakob Disease) as we call it for short, is a very rare but very serious condition that damages the functioning of our brain . Simply put, what happens is that our brain cells are gradually destroyed. This can cause things like memory loss, confusion, as well as behavioral changes and difficulty walking.
What are the symptoms of CJD?
The symptoms of this disease do not appear all at once. They develop gradually. They may start small and become more severe over time. Let's look at the main symptoms, in order from the earliest to the most severe:
- Forgetfulness and memory problems: It starts with forgetting small things. Things like where your keys are, someone's name. But this is a little more than just normal forgetfulness.
- Confusion and disorientation: Difficulty in remembering things like where you are and what time it is. Difficulty finding your way even in familiar places.
- Changes in behavior and personality: Not being the same as before, acting out of character, getting angry in strange ways, or suddenly becoming quiet. Trying to withdraw from society.
- Vision problems and difficulty understanding what you see: Sometimes you see double, or you can't figure out what you're seeing.
- Hallucinations or delusions: Seeing or hearing things that are not there, or having false beliefs that others are trying to harm you.
- Loss of balance and coordination problems (ataxia): Feeling out of control when walking, stumbling, and falling. Difficulty controlling limbs.
- Uncontrolled muscle twitching (myoclonus) and muscle stiffness (dystonia): Sudden jerking of the muscles in the body, tremors of the limbs. Sometimes the muscles become stiff and twist in an unusual way.
- Seizures: Can come on like a fit.
- Paralysis: Over time, parts of the body can become paralyzed.
- Muscle atrophy: Muscles atrophy and the body becomes thin.
These symptoms don't come on the same way or at the same speed for everyone, but if you or someone you know is experiencing any of these symptoms, it's best to see a doctor as soon as possible.
Why does CJD occur? What causes it?
This may seem a little complicated to understand, but let me explain it simply. Our bodies have a type of protein called a protein . These are like little machines that do their jobs one by one. In order for these proteins to work properly, they need to "fold" into a specific shape. Think of it like an origami leaf, if you fold it correctly, you get a beautiful shape.
So, sometimes these proteins fold incorrectly. A misfolded protein is not usable by our brain cells. CJD is caused by one of those misfolded, abnormal proteins. These are called "prions."
These prion proteins start to accumulate inside brain cells. Since the cells cannot remove them, they gradually damage the cells and eventually die. The most dangerous thing is that these prions can also misfold normal proteins, turning them into prions. Like an infectious disease, these prions multiply and spread throughout the brain. This is why the disease quickly becomes severe.
Imagine, this prion is doing something like a rotten apple spoiling other good apples.
Are there different types of CJD?
Yes, there are several main types of CJD. These are classified according to how they develop.
1. Sporadic CJD: This is the most common type. It develops suddenly, without any specific cause. The exact cause is still unknown.
2. Genetic CJD: This occurs when an abnormal gene is inherited from one or both parents. There are two subtypes of this: Gerstmann-Sträussler-Scheinker (GSS) syndrome and Fatal Familial Insomnia . These are very rare.
3. Acquired CJD: This is caused by an external cause. For example, it can be caused by an organ transplant , tissue transplant , or the use of surgical instruments that have not been properly sterilized. However, these are very rare these days, because medical technology has improved so much.
4. Variant CJD (vCJD): You may have heard of this as being related to the disease "Mad Cow Disease" or Bovine Spongiform Encephalopathy (BSE) . You can get vCJD by eating meat from a cow with BSE. The prion that causes BSE can also be transmitted to humans. However, this is now very rare in the world, due to safety measures taken in animal husbandry.
Who is most likely to develop CJD? Is it contagious?
In fact, anyone can get CJD. Sometimes you can have the prion in your body for years without showing any symptoms. But once symptoms do appear, the disease can quickly become severe as the brain is damaged.
This disease usually affects people between the ages of 50 and 80. However, genetic forms of CJD can sometimes be seen in people between the ages of 30 and 50.
Now you may be wondering if this is a contagious disease . A person with CJD cannot be spread from one person to another through casual contact, sneezing, or sharing food. There is nothing to worry about. The only way to get CJD is, as mentioned earlier, through a transplant of an organ or tissue from someone who has CJD, or through injections of certain hormones from someone who has CJD.
Variant CJD (vCJD) has been found to be transmitted through blood transfusions , but that is also very rare. The type of vCJD is also very rare worldwide.
How do doctors accurately diagnose CJD?
If you think you have symptoms of CJD, the first thing a doctor will do is listen carefully to your symptoms and do a physical and neurological exam. Sometimes they will ask you to do small things so they can get an idea of how your brain is working.
CJD belongs to a group of diseases called Transmissible Spongiform Encephalopathy . The name comes from the fact that a brain damaged by prions looks like a sponge with holes when viewed under a microscope.
Doctors are running several more tests to confirm CJD.
- MRI (Magnetic Resonance Imaging) scan: This takes detailed pictures of the brain and checks for any abnormalities in the brain.
- Spinal tap or lumbar puncture: This involves taking a sample of fluid from the spinal cord and testing it for prion proteins.
- EEG (Electroencephalogram) test: This measures the electrical activity of the brain and looks for abnormal patterns. A specific pattern can be seen in CJD.
In addition, further tests may be performed to rule out other conditions that have similar symptoms to CJD.
- Blood tests
- Genetic testing: If genetic CJD is suspected.
- Urinalysis
- Brain biopsy: This is done very rarely, only if all other tests fail to confirm the diagnosis, because it is a minor surgical procedure.
Is there a treatment for CJD?
Unfortunately, there is currently no cure for CJD, no treatment to stop the spread of the disease, or no treatment to slow it down . This is the saddest part of this disease.
However, palliative care can be provided to reduce the discomfort caused by symptoms and provide some relief to the patient. For example, medications can be given to control seizures, manage behavioral changes, or reduce uncontrolled muscle spasms. However, the benefits of these treatments are limited.
Because this condition can quickly worsen, it is important for the patient and family to receive supportive care. In the final stages of the disease, hospice services help the patient remain comfortable and free from pain.
Sometimes, if you are eligible, your medical team may also suggest that you participate in clinical trials, which study new treatments.
What can you expect if you develop CJD?
Since CJD is incurable and has no cure, there is little hope for the disease. After symptoms begin, the ability to function, walk, and talk gradually declines over time.
Because changes can happen so quickly, it's important to work with your healthcare team to discuss your wishes and needs and make decisions. In fact, it's a good idea for all of us, regardless of whether we have a disease, to have a document like an advance directive . This means that if you become unable to express your thoughts, you have written down what medical care you want and what you don't want. It's especially important to do this early in a rapidly spreading disease like CJD.
Because this disease is so severe, it can be very helpful for you and your loved ones to seek advice from a mental health professional . It can be a great strength to adjust to these changes and build your confidence.
What is the life expectancy of a CJD patient?
Most CJD patients die within a few months or a year of diagnosis. The only exception is genetic CJD , in which people can live from one to ten years after the onset of symptoms.
Your doctor can give you specific, up-to-date information about your condition. Remember, statistics are generalizations, and every person is different.
Can CJD be prevented?
Many types of CJD cannot be prevented. Especially sporadic CJD, which occurs spontaneously, has no way of preventing it.
The only preventable type is variant CJD (vCJD) . It is caused by eating beef infected with BSE ("mad cow disease"), and can be prevented.
Animal testing prevents BSE-infected cattle from entering the food chain. However, untested and improperly prepared meats can be a risk. Therefore, it is safest to avoid eating unregulated and untested meats, especially those containing parts such as brains and bone marrow .
Finally, things to remember
A diagnosis of CJD can be a life-changing experience. It can feel like you and the world around you are gone in the blink of an eye. Such a change can be difficult for you and your loved ones to bear.
If you're not sure what to think about this or how to proceed, your medical team is here to help. They can help you plan ahead and prepare for what's to come. Just remember that you're not alone.
` Creutzfeldt-Jakob Disease, CJD, Prion, Brain Disease, Neurological Disease, Memory Loss, Dementia, BSE, Mad Cow Disease
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