Charcot-Marie-Tooth Disease (CMT)

Charcot-Marie-Tooth disease (CMT) is one of the most common inherited neurological disorders, affecting motor and sensory nerves throughout the body. While CMT Disorder is one of the most common inherited neurological disorders, it rarely affects the brain.

What You Need to Know About Charcot-Marie-Tooth Disease

What is Charcot-Marie-Tooth Disease?

Charcot-Marie-Tooth disease — also known as hereditary motor and sensory neuropathy (HMSN), or peroneal muscular atrophy — is an inherited nerve disorder. Your brain uses the nerves in your body to transmit signals to your muscles. However, CMT disease interferes with the neural pathway between the brain and muscles. The abnormalities in the nerves affect both the sensory and motor nerves.

As a result, Charcot-Marie-Tooth disease can prevent you from experiencing sensations like pain or touch. Because motor nerves are affected, it can compromise your ability to move muscles or walk. CMT disease is the most common inherited neurological disorder and affects 1 in 2500 people. There is currently no cure for Charcot-Marie-Tooth disease.

Finding relief from your CMT symptoms starts with a visit to Resurgens Orthopaedics. Schedule an appointment at one of our Metro Atlanta locations now!

What Causes Charcot Marie Tooth Disease?

Charcot-Marie-Tooth disease is typically the result of a chromosome mutation passed down by your parents. The gene abnormality that causes CMT affects crucial brain structures like the myelin sheath and axonal structures. Depending on how your CMT presents, you may experience it in the myelin sheath, axonal structures, or both.

CMT disease gene mutation can even determine symptoms and what age you will experience them. There are over 30 known genetic triggers for CMT disease — and the precise cause of many forms of Charcot-Marie-Tooth disease is still unknown.

Charcot-Marie-Tooth Disease Symptoms

Charcot-Marie-Tooth disease symptoms are different from person to person. Symptoms of CMT disease usually begin in early childhood or early adulthood but can start later. Typically, CMT symptoms start in the legs and feet. As the CMT progresses, it can affect your arms and hands.

Charcot-Marie-Tooth disease is a progressive disease. Usually, the first symptom is losing the ability to pick up and clear the foot off of the floor (foot drop). As the disease process gets worse, the toes can begin to curl and flex at their joints, causing what is commonly known as hammertoes. As the disease progresses, weakness and spasms can also affect the upper limbs. Muscle wasting often makes the legs look like a stork or upside-down champagne bottle.

As CMT disease develops, you may experience:

Loss of touch sensation in the feet, ankles, and legs
High-arched feet
Spasms
Painful cramping
Involuntary grinding of teeth
Scoliosis
Malformed hip sockets
Difficulties chewing, swallowing, or speaking

People with Charcot-Marie-Tooth disease must avoid periods of prolonged immobility, such as when recovering from a secondary injury, as this can worsen the symptoms. For some people, pain can be significant to severe and interfere with daily life activities. However, pain is not experienced by all people with CMT disease.

How is Charcot-Marie-Tooth Disease Diagnosed?

During your visit to Resurgens Orthopaedics, a physician will ask you about your family history and ask you to demonstrate activities that cause your symptoms. Your physician will look for signs of muscle weakness and assess your reflexes. You may experience temporary irritation during this portion of the exam.

Next, your physician will order diagnostic tests like blood tests, nerve conduction studies, and electromyography. These tests help your physician rule out any other causes of your CMT symptoms. They will use the information from these tests to create your customized treatment plan.

Charcot-Marie-Tooth Disease Treatment

While there is no cure for Charcot-Marie-Tooth disease, there are still many options for alleviating CMT symptoms. CMT disease generally has a slow progression, and it doesn't affect most people's expected life span.

Non-Surgical CMT Treatment

The most important goal for patients with CMT disease is to maintain movement, muscle strength, and flexibility.

Physical therapy should be involved in designing an exercise program that fits a person's personal strengths and flexibility. Bracing can also be used to correct problems caused by CMT disease. Appropriate footwear is also very important for people with CMT. Still, they often have difficulty finding well-fitting shoes because of their high arched feet and hammer toes.

Patients experiencing pain may find relief with over-the-counter or prescription pain medication. Be careful with these substances because they are habit-forming.

Surgical CMT Treatment

If deformities are severe, your physician may recommend surgery. In consulting an orthopedic surgeon, patients can choose to stabilize their feet or correct progressive problems. These procedures include straightening and pinning the toes, lowering the arch, and sometimes, fusing the ankle joint.

Although Charcot-Marie-Tooth disease is a severe condition, it is possible to manage your CMT symptoms and experience a full life. Schedule an appointment with our CMT disorder experts now!

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