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:
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
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 )
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 )
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:
- Maintain ideal body weight so that it is not increasingly difficult to move
- Do not consume alcoholic beverages in excess
- Do not smoke and consume caffeinated drinks
- Wear comfortable shoes to prevent foot injuries
- Always consult a doctor before taking certain medications
- Protect your feet from possible injury or infection
- Do not take drugs that can cause nerve injury, such as vincristine