Difficulty walking and loss of body control: Let's talk about Friedreich's Ataxia.

Have you ever felt like you were suddenly swaying when you walked, or rather, losing your balance? Or do you find it difficult to speak or reach for something with your hands? These could be signs of something deeper than just fatigue. Today we are talking about a rare condition that many people in our country have not even heard of, but it is very important to be aware of. That is Friedreich 's Ataxia (FA).

What exactly is Friedreich's Ataxia (FA)?

Simply put, it's a genetic disease that gradually damages our nervous system over time, causing abnormal body movements, difficulty walking, talking, and swallowing, as well as impaired vision and hearing.

Think of the nerves in our bodies as telephone wires. These nerves carry messages from the brain to the rest of the body. This communication is essential for us to move our limbs, walk, and talk. In FA, these nerve wires gradually weaken and stop working properly.

This disease also affects the part of our brain called the cerebellum . This part is very important for controlling our body movements and balance. But the best thing is, FA disease does not affect your memory, intelligence, or ability to think. That means, even if you have this disease, your thinking ability remains normal.

Why is this happening?

This is a completely genetic condition. That means it runs in families from generation to generation. As you know, everything in our bodies is controlled by genes. The cause of this disease is a defect in a gene called FXN. For a person to develop this disease, they must inherit copies of this defective FXN gene from both their mother and father.

The FXN gene instructs the body to make a special protein called frataxin . This protein is essential for our cells, especially nerve cells and heart muscle cells, to produce energy. When you have two defective FXN genes, the body cannot make enough of the frataxin protein.

When this protein is lacking, not only can cells not produce energy properly, but toxic substances, especially iron, begin to accumulate inside the cells. Over time, this is what damages the nervous system and causes the symptoms of FA.

What are the main symptoms of this disease?

Symptoms usually begin between the ages of 5 and 15. However, sometimes symptoms can appear earlier or much later, in adulthood.

The first symptoms are difficulty standing and walking, and loss of balance . Doctors call this gait ataxia . Over time, these symptoms gradually increase, and new symptoms may appear.

How do you accurately diagnose this disease?

When you or your child sees a doctor, he or she will first examine your body and ask you questions about your symptoms. He or she will pay particular attention to the following:

• Do you have balance problems?
• Have you lost feeling in your joints?
• Are reflexes lost?
• Are there any other symptoms related to the nervous system?

If the doctor suspects that this could be FA based on these symptoms, he will definitely refer you for a genetic test. Only through that test can we definitively determine whether there is a defect in the FXN gene.

In addition, several other tests may be done to see how much damage has been done to the heart and nerves:

• MRI or CT scans to examine the brain and spinal cord.
• An electromyogram (EMG) test to check muscle and nerve function.
• Nerve conduction studies look at the speed at which messages travel through nerves.
• Check the function of the heart with an electrocardiogram (EKG/ECG) and/or an echocardiogram (Echocardiogram) .
• Blood tests to check blood sugar levels and vitamin E levels.

What are the treatments for this?

There is currently no cure for FA. However, there are many things you can do to manage the symptoms and make life easier. Recently, the FDA in the United States approved a drug called Skyclarys (omaveloxolone) for the disease.

Your doctor, physiotherapist, and other specialists will work together to help you. The treatment plan may include:

• Surgery or the use of special supports (braces) for back pain or foot deformities.
• Physical therapy to keep the body as active as possible.
• Speech therapy for speaking and swallowing difficulties.
• Equipment such as special shoes, canes, or wheelchairs to make walking easier.
• Medication for pain if needed.
• Treating conditions such as diabetes and heart conditions that may occur with this disease.

Mental health and getting support

It's normal to feel overwhelmed and shocked when you learn that you have a rare, incurable disease like this. That's why it's so important to think about your mental health as much as your physical health.

Remember, depression is a treatable condition. It can also be helpful to talk about your feelings with family and friends. Joining a support group can help you feel less alone, as you can meet other people who are living with the same illness as you.

Friedreich's Ataxia, neurological disease, genetic disease, difficulty walking, loss of body control, gait ataxia, scoliosis, frataxin