Charcot-Marie-Tooth disease

Charcot-Marie-Tooth Disease (CMT) is a group of diseases that damage the peripheral nervous system. CMT disease is caused by a gene disorder inherited from parents. Symptoms of this disease usually begin to appear in childhood through adolescence, but can also appear as adults.

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 to feel weak or numb.

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

Causes of Charcot-Marie-Tooth Disease

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

Damage to the peripheral nervous system disrupts the transmission of signals from the brain to the hands and feet or vice versa. For example, a brain that doesn't receive pain signals from the feet can cause the sufferer to be unconscious if his feet are infected.

Considering that CMT is inherited from parents, someone who has a family history of CMT is more at risk of experiencing the disease.

Symptoms of Charcot-Marie-Tooth Disease

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

Especially in children, the early stage symptoms that can be seen are:

Often have accidents and look careless
Difficulty lifting legs or walking
Legs look limp when walking ( foot drop )

Meanwhile, symptoms that are generally experienced by sufferers of CMT include:

Curved toes ( hammer toe )
The soles of the feet are too curved or flat ( flat feet )
Muscles in the feet and ankles weaken
Reduced muscle mass ( muscle atrophy )
Decreased ability to feel sensations in the feet
Hands and feet feel cold due to poor blood circulation
Difficulty lifting the ankle, making it difficult to walk
Easily tired

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

When to see a doctor

Check with your doctor if you or your child has symptoms of CMT, especially if the symptoms are accompanied by difficulty breathing or signs of infection in the feet.

Also consult with your doctor if there are family members who have a history of CMT, especially if you plan to get married or have children. The aim is to find out how much the risk of CMT disease decreases in children in the future.

Diagnosis of Charcot-Marie-Tooth Disease

The doctor will ask questions and answers about the symptoms experienced by the patient, as well as the medical history of the patient and his family. After that, the doctor will perform a physical examination to look for foot deformities, signs of muscle weakness, and decreased ability to feel sensation.

To confirm suspected CMT disease, the doctor will also carry out supporting examinations, such as:

Electromyography (EMG), to measure the electrical activity of the muscles
Nerve conduction test, to measure the strength and speed of the signal that is delivered to the peripheral nerves
Biopsy or tissue sampling in 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, doctors can perform tests on the fetus to detect the possibility that the baby will be born with the same condition. The test includes:

Chorionic villus sampling (CVS), by examining samples of the placenta 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 Charcot-Marie-Tooth disease aims to relieve symptoms and help patients carry out their daily activities. Treatment methods include therapy, drugs, and surgery. Here is the explanation:

Therapy

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

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

Drugs

In addition to therapy, doctors can also prescribe drugs to relieve symptoms. Some of these types of drugs are:

Non-steroidal anti-inflammatory drugs , such as ibuprofen, to relieve muscle and joint pain
Anti-seizure drugs or tricyclic class antidepressants, to treat nerve pain ( neuropathic pain )

Operation

In patients who have structural abnormalities of the arms or legs, the doctor will perform surgical procedures, such as:

Osteotomy, to correct deformity of flat feet
Arthrodesis, to correct heel and sole deformities, and relieve joint pain
Plantar fascia release surgery , to relieve heel pain triggered by tendon inflammation
Spine surgery , to correct spinal deformities, such as scoliosis

Please note, all of the above treatment methods do not cure CMT, but are limited to relieving symptoms and helping patients in their activities.

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

Exercise regularly to maintain muscle and joint strength
Wear comfortable, well-fitting shoes to protect your feet
Check your feet regularly to prevent injuries and infections
Always use a walker to help with balance and not to overload the feet
Always trim nails when they are long to reduce the risk of infection or abnormal nail growth

Complications of Charcot-Marie-Tooth Disease

Charcot-Marie-Tooth disease is a disease that can get worse over time so that it can cause serious complications, such as:

Loss of ability to walk
The body is getting weaker
Injury or infection in the numb part of the body
Difficulty breathing and speaking
Difficulty swallowing resulting in malnutrition ( malnutrition )
Paralysis

Prevention of Charcot-Marie-Tooth Disease

Charcot-Marie-Tooth disease cannot be prevented because it is a hereditary disease . Genetic counseling and testing can be done if you or your partner has a family history of CMT. The aim is to determine the magnitude of the child's risk of developing CMT in the future.

Apart from carrying out a genetic examination, there are a number of steps that can be taken so that CMT does not get worse, namely: