Have you suddenly started to feel weakness or tingling in your legs? Do you often lose your balance and fall when you walk? You may also notice some changes in the shape of your feet. Don't dismiss these things as normal fatigue. Because these may be symptoms of a specific, genetic neurological condition called Charcot-Marie-Tooth (CMT). Although the name is a bit complicated, there is nothing to be afraid of. Today, let's talk about this disease, its symptoms, and what can be done about it in a very simple and friendly way.
What is Charcot-Marie-Tooth (CMT) disease?
Simply put, CMT is a condition that affects the nerves outside our brain and spinal cord . We call these nerves peripheral nerves. These nerves carry messages from our brain to our limbs and bring sensations (heat, cold, pain) from our limbs back to the brain. In CMT, these nerves are damaged.
This strange name comes from the names of the three doctors who first discovered the disease in 1886 (Jean-Martin Charcot, Pierre Marie, and Howard Henry Tooth). It is also called `(hereditary motor and sensory neuropathy)` and `(peroneal muscular atrophy)`. This is not actually a single disease, but a group of diseases that are caused by genetic factors. So far, more than 90 types of CMT have been identified.
The most important thing is that this is not a contagious disease. That means it cannot be spread from one person to another through sneezing or touching.
What causes CMT disease?
This disease is caused by a genetic mutation in our genes . This is something that is passed down from parent to child. Think of our nervous system as a network of telephone wires. The brain is the main hub. From there, it sends messages to the muscles in our arms and legs to "stretch" and "stretch out." What happens in CMT is that these telephone wires, or nerves, don't work properly.
This genetic defect prevents the nerves from transmitting messages accurately and quickly. Over time, these nerves gradually weaken, become damaged, and can even disappear. This is when symptoms such as muscle weakness and loss of sensation appear.
What are the common symptoms of this disease?
Symptoms of CMT usually begin to appear in late childhood or adolescence . These symptoms are first seen in the feet and legs.
| Symptom | Simple explanation |
|---|---|
| Change in foot shape | The top of the foot is unnecessarily high arched. Also, the toes are bent in the middle, forming a hammer shape. We call this ``hammertoes``. This makes it difficult to walk, and can cause sores, blisters, and calluses when wearing shoes. |
| Difficulty walking | It becomes difficult to lift the foot off the ground when walking. This is called ``foot drop.'' This causes the foot to drag on the ground, or you have to walk with a ``slapping'' gait. |
| Muscle weakness | Over time, the muscles, especially in the lower legs, become thin and weak. |
| Loss of sensation and balance problems | Tingling or numbness in the feet and hands may occur. It becomes difficult to maintain balance in the body. |
As the disease progresses, these symptoms can also affect the muscles of the hands and arms. However, people with this disease can usually live long, full lives .
How does a doctor accurately diagnose this disease?
If you or your child has these symptoms, the best thing to do is see a doctor . Your doctor may refer you to a neurologist, a doctor who specializes in the nervous system.
They do several tests to diagnose the disease, such as:
- Family medical history : Ask if anyone in your family has had these symptoms.
- Physical examination: Tests such as the knee-jerk reflex are performed. These reflexes are often very weak in people with CMT. They also test for muscle weakness by asking them to walk on their soles.
- Nerve Conduction Velocity test: This involves attaching small electrodes to the skin and sending a very small electrical current to measure how quickly the nerves are conducting messages. This speed is slow in CMT patients.
- Electromyography (EMG): A very thin needle is inserted into a muscle and the electrical activity of the muscle is measured while you perform an action, such as clenching your fist.
- DNA test: A blood sample is taken to check for genetic defects that cause CMT. However, the absence of a defect in this test does not mean that CMT is not present, because not all genes that cause the disease have been identified.
What are the treatments for CMT?
Unfortunately, there is no cure for CMT yet . However, there are many treatments that can help control symptoms and lead a good life.
The most important thing is to manage the disease. There are various ways to do this.
- Physical Therapy: This is very important. Muscle strengthening and stretching exercises are done under the guidance of a therapist. Exercises that do not put weight on the joints, such as swimming and cycling, are very good. It is very important to start this treatment in the early stages , before the muscles become weak.
- Occupational Therapy: This therapy helps when the disease affects the hands and makes it difficult to perform daily tasks (eating, dressing). It involves training in skills to strengthen the grip and make things easier.
- Assistive Devices: Leg braces and custom footwear can make walking easier and provide better support for the body.
- Medication: Painkillers and other medications are available for things like muscle pain and nerve pain. You should talk to your doctor about this and choose the right one.
- Surgery: In some cases, surgery may be recommended to correct severe deformities and joint problems in the feet. However, surgery cannot repair nerve damage.
Can this disease cause other complications?
Yes, CMT can sometimes cause other health problems.
- Difficulty breathing and swallowing: This is a bit rare. But if the muscles that control the diaphragm are affected, you may have difficulty breathing regularly. If this happens, see a doctor immediately. It can be an emergency.
- Infections: Because the feet have less sensation, sometimes even small scrapes and wounds go unnoticed. If these wounds are not treated properly, they can become infected. Therefore, it is very important to regularly check your feet and keep them clean .
- Hip Dysplasia: If the hip joint is not properly positioned, CMT can make the condition worse.
- Risks during pregnancy: Women with CMT have a slightly higher risk of developing certain complications during pregnancy.
Take-Home Message
- Charcot-Marie-Tooth (CMT) is a genetic neurological disease that is inherited from parents. It is not contagious.
- The main symptoms are gradual weakening of the muscles, mainly in the legs and feet, difficulty walking, and loss of sensation.
- Although it cannot be completely cured, with physical therapy, assistive devices, and proper management, a very good, full life can be lived.
- If you have these symptoms, do not be afraid or delay, see a doctor and get a proper diagnosis.
- It is especially important to take care of your feet, cleaning them frequently and checking for injuries.
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