Charcot-Marie-Tooth Disease (CMT)
Charcot-Marie-Tooth Disease (CMT) is a genetic group of diseases associated with peripheral nervous system disorders. This affects movement and sensation. The patient will have numbness or numbness in the hands, arms and feet, abnormal gait. Feet are arched down or very flat. The disorder usually begins in the feet before eventually affecting the arms and hands.
Symptoms usually appear between the ages of 5-15, but in some cases they may begin to appear in middle age or after middle age. The severity of the disease varies from person to person according to the type and severity of symptoms. At present, there is no cure for the disease. But it can relieve symptoms and various therapies to help reduce the obstacles in the patient’s life.
Symptoms of Charcot-Marie-Tooth Disease – patient from disease Charcot-Marie-Tooth Disease Most people will first feel abnormalities in their legs and feet. Then the symptoms gradually develop into the arms and hands. They often have symptoms of various abnormalities in the body as follows:
- The muscles in the ankles, feet, and lower legs are weak. Small muscles of the legs and feet have ankle inability to stomp or lay their feet flat while walking As a result, the patient has to bend the hip and knee joints more. to lift the toes off the ground Has an unusually clumsy walking posture
- hand muscle atrophy or atrophy affect the ability to write books make things fall often or the use of hands is unusually clumsy
- hand sensation The legs and feet are lowered or not felt at all. Affects the processing of the brain in the senses As a result, the patient’s perception of general injury is reduced, for example, the patient may not be aware that he or she has a minor wound or a blister that may become infected, for example, even if the disease does not cause severe pain. But the patient may feel numbness or pain like a needle prick.
- A deformed bone results in the muscles being in an abnormal shape. arched or flat feet head even feet This made him unable to support himself as usual or frequent tripping. If the patient develops symptoms during adolescence, the muscles in the calf or knee may weaken and contract, especially the right side. In severe cases, it affects the hip muscles. This can cause hip dystrophy. In addition, the muscles in the abdomen or back that are not balanced may result in symptoms. spinal curvature followed
Causes of Charcot-Marie-Tooth Disease
Charcot-Marie-Tooth Disease is a genetic disorder that is inherited from birth. It is caused by abnormalities in genes that are inherited from the father or mother, resulting in the structure of the nerves. In parts called axons (Axons) and myelin (Myelin) abnormalities. where both parts will act Transmits nerve signals between the brain and muscles. But when the abnormality occurs, the transfer of sensations from the brain to the nerve fibers is slowed down. As a result, the muscles do not receive signals from the nervous system normally, affecting the functioning of the muscular system and eventually deteriorating.
However, there are cases where patients with the disease without their parents are sick. Charcot-Marie-Tooth Disease or a carrier This may be caused by mutations in the patient’s genes. And if a patient has the abnormal gene, it can be passed on to other offspring as well.
Diagnosing Charcot-Marie-Tooth Disease
Doctors and neurology specialists will diagnose the disease. It starts with asking about the patient’s medical history, abnormal symptoms, and overall health of the patient. Patients should inform their doctor if family members have similar symptoms. A physical examination is then performed to check for obvious symptoms of the disease, such as abnormalities in the hands, arms, legs, muscle weakness in the feet, bone deformities, to test the patient’s nervous or sensory responses.
Your doctor may also order additional tests, such as:
- X-rays to clearly examine the severity of the deformed bones The doctor will X-ray the patient’s feet while applying weight. X-rays may also help detect scoliosis and hip dysplasia.
- Nerve and muscle electrocardiogram The doctor inserts a small needle through the muscle and electrically stimulates the nerve before recording changes in the electrical current from the muscles and sensory nerves. This allows the doctor to determine the functioning of the nervous system and the response of the patient’s muscles.
- nerve biopsy A sample of nerve tissue in the calf is cut and examined under a microscope. to look for abnormalities in the tissue surrounding the nerve
- Testing for abnormalities in the genes of an individual will only be used in some cases to determine the gene that causes the disease.
Treating Charcot-Marie-Tooth Disease
Charcot-Marie-Tooth Disease, there is no cure yet. It can only help relieve symptoms and help the patient move as easily as possible. This will vary according to the symptoms of each patient as follows:
There are several non-surgical treatments for Charcot-Marie-Tooth Disease.
- Doing physical therapy to increase strength and flexibility to the muscles. This allows the patient to move freely. Prevents muscle contractions and disabilities The physiotherapist and doctor will develop a form of exercise that is appropriate for the patient, such as low-impact exercise or swimming.
- Using Orthopedic Devices For example, a person with an ankle sprain may use an ankle brace to keep the ankle in proper position. People with arched feet can wear specially made shoes. Using a knee or calf brace to prevent injuries and facilitate walking up and down stairs. or moving normally
- Occupational therapy Occupational Therapy, where occupational therapists will organize activities that focus on the development of the muscles in the hands and arms. This includes helping patients to use their hands for normal daily activities, such as practicing writing. Using a special type of rubber to cover the door knob. or for the patient to wear clothes with buttons instead of using ordinary buttons This is because people with CMT often have difficulty in grasping and moving their fingers.
- Medication. In some cases, patients may use medication to relieve pain caused by nerve damage or to relieve beriberi in a muscle area.
In the event that the patient’s bone is severely deformed Your doctor may recommend surgery to correct bone deformities in your feet. This will help the foot shape more straight. Helps reduce pain in the feet can walk better It also allows patients to wear normal shoes normally. However, surgery is the only treatment for bone deformities. It cannot treat muscle weakness or loss of sensation.
It’s also important to take care of your feet, muscles, and joints. This is because the loss of sensory perception can cause the patient to be unaware that they are having a wound on their foot and that the wound may be infected or inflamed. Therefore, regularly check for abnormalities in the foot area. Choose the right shoes and get rid of the skin around the feet regularly
Complications of Charcot-Marie-Tooth Disease
Charcot-Marie-Tooth Disease patients may have complications that vary from person to person depending on the severity of their condition. The most common complications are symptoms, muscle weakness. Deformed or handicapped feet therefore causing problems in walking And the perception of other organs in the body may be reduced. In addition, the patient may have difficulty breathing. Trouble swallowing or speaking If the muscles that control that part of the body are affected by CMT
Preventing Charcot-Marie-Tooth Disease
Because Charcot-Marie-Tooth Disease is a genetic disease. that the patient has been transmitted since birth Therefore, there is no effective way to prevent it. If you find yourself, a child, or a family member experiencing a disorder similar to the symptoms of CMT, seek immediate medical attention. to get diagnosed as soon as possible You should also consult your doctor before pregnancy to assess the risk of developing the disease in your baby.