Charcot-Marie-Tooth Disease - Symptoms, causes and treatment

Charcot-Marie-Tooth disease (CMT) is a group of diseases that damage the peripheral nervous system. CMT disease is caused by gene abnormalities that are inherited from parents.

The peripheral nervous system or peripheral nervous system functions to send signals from the brain and spinal cord throughout the body, or vice versa. Damage to the peripheral nervous system can cause the injured area of the body to become weak or numb.

CMT disease is a disease that gets worse over time. As a result, the patient's ability to carry out activities will decrease. However, there are several treatment methods that can be used to relieve symptoms and help sufferers carry out their daily activities.

Symptoms of Charcot-Marie-Tooth Disease

Symptoms of CMT disease develop over time. The severity of symptoms can be different for each patient. Symptoms often appear at the age of 5-15 years, but can also appear in adulthood.

Especially in children, the symptoms seen in the early stages include:

Often has accidents and looks careless.
Difficulty lifting legs or walking.
Legs look limp when walkingfoot drop).

Symptoms commonly experienced by people with CMT disease are:

Curved toes (hammer toe).
The soles of the feet are too curved or even flat (flat feet).
Muscles in the legs and ankles weaken.
Decreased ability to feel sensation in the feet
Hands and feet feel cold, due to poor blood circulation.
Difficulty lifting ankles, making it difficult to walk.
It's easy to feel tired.

Over time, the symptoms in the feet will spread to the hands. Patients will even find it difficult to move their hands, feet, and tongue. In some cases, patients may also experience tremors, spinal deformities, such as scoliosis, and difficulty swallowing (dysphagia).

When to go to the doctor

Check with your doctor if you or your child has symptoms of CMT. Your doctor may refer you to a neurologist.

Also consult your doctor if any of your family members have a history of CMT, especially if you are planning to get married or have children. The goal is to find out how much the risk of CMT disease will pass to your child later.

Causes of Charcot-Marie-Tooth Disease

Charcot-Marie-Tooth disease is caused by an abnormality in one or more genes. The genetic disorder that causes CMT can be inherited from one or both parents. This disorder causes damage to the peripheral nervous system, the nerves that connect the central nervous system in the brain and spinal cord.

Damage to the peripheral nervous system makes the sending of signals from the brain to the hands and feet or vice versa is disrupted. For example, the brain does not receive pain signals from the legs, as a result, the patient is not aware that his feet are infected.

Diagnosis of Charcot-Marie-Tooth Penyakit Disease

The doctor will ask the patient's symptoms and whether the patient's family has a history of CMT disease. Then, the doctor will perform a physical exam to look for foot deformities, signs of muscle weakness, and decreased ability to feel sensation.

To strengthen the suspicion of CMT disease, the doctor will also carry out supporting examinations, such as:

Electromyography (EMG), to measure the electrical activity of muscles.
Nerve conduction test, to measure the strength and speed of signals transmitted to the peripheral nerves.
Biopsy or tissue sampling of the peripheral nerves, for examination in the laboratory.
Genetic testing uses a patient's blood sample to detect genetic disorders.

Especially for pregnant women who suffer from CMT disease, doctors can perform tests on the fetus to detect the possibility of the baby being born with the same condition. The tests include:

Chorionic villus sampling (CVS), by examining placental samples at 11-14 weeks of gestation.
Amniocentesis or examination of amniotic fluid samples, when the gestational age enters 15-20 weeks.

Treatment of Charcot-Marie-Tooth Disease

Treatment of CMT disease aims to assist patients in performing daily activities. Treatment methods include therapy, medication, and surgery. Here is the explanation:

Therapy

There are 3 types of therapy that can be done to help patients with CMT disease, namely:

Physiotherapy, to help restore muscle strength and prevent muscle tension.
Occupational therapy, to teach patients how to adapt to daily activities.
Use of orthoses or assistive devices such as leg bracesleg braces), to assist patients in their activities.

Drugs

To relieve muscle and joint pain, your doctor will prescribe non-steroidal anti-inflammatory drugs, such as ibuprofen.
To treat nerve pain (neuropathic pain), the doctor may also prescribe anti-seizure drugs or tricyclic antidepressants.

Operation

In patients with structural abnormalities of the arms or legs, the doctor will perform surgery, such as:

Osteotomy, to correct the deformity of the flat foot.
Arthrodesis, to correct deformities of the heel and sole of the foot, and relieve joint pain.
Release operation plantar fascia, to relieve heel pain triggered by tendon inflammation.
Spinal surgery, to correct spinal deformities, such as scoliosis.

It should be noted that all of the above treatment methods do not cure CMT, but are limited to relieving symptoms and helping patients with their activities.

To help relieve symptoms and prevent complications, there are a number of simple steps patients can take at home, namely:

Regular exercise to maintain muscle and joint strength.
Wear shoes that are comfortable and fit, and protect the feet.
Regularly check your feet to prevent sores and infections from forming.
Always use a walker to help balance and so as not to burden the legs.
Always trim nails when they are long to reduce the risk of infection or abnormal nail growth.

Complications Charcot-Marie-Tooth disease

CMT is a disease that can get worse over time, which can lead to serious complications, such as:

Unable to walk.
The body is getting weaker.
Injuries to numb body parts.
Difficulty breathing, swallowing, or speaking.
Paralysis.

Prevention Charcot-Marie-Tooth disease

CMT disease cannot be prevented because it is a hereditary disease. Counseling and genetic testing can be done if you or your partner has a family history of CMT, to determine the risk of the child developing the same disease in the future.

In addition, there are a number of steps that can be taken to prevent CMT from getting worse, namely: