Charcot-Marie-Tooth Disease (CMT)

Charcot-Marie-Tooth disease (CMT) is one of a group of varied inherited disorders of the peripheral nervous system (the nerves outside of your spinal column). It is the most common inherited neurological disorder, and affects 1 in 2500 people. There is currently no cure for it.

Charcot-Marie-Tooth Disease Symptoms and Anatomy

Symptoms of CMT usually begin in early childhood or early adulthood, but can begin later. Usually, the first symptom is the loss of 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 are commonly known as hammertoes. Muscle wasting is often seen, making the legs look like a stork or upside down champagne bottle. As the disease progresses, the upper limbs can also be affected by weakness and spasms.

Loss of touch sensation in the feet, ankles, and legs, occurs with various types of the disease. High-arched feet (pes cavus) are classic of this disease. Overuse of an affected hand or limb can activate symptoms including numbness, spasm, and painful cramping.

Symptoms and progression of the disease can vary. Involuntary grinding of teeth, scoliosis, malformed hip sockets, and difficulties chewing, swallowing or speaking can all occur with this disorder. People with CMT must avoid periods of prolonged immobility such as when recovering from a secondary injury, as this can make the symptoms worse.

Pain due to postural changes, skeletal deformations, muscle fatigue, and cramping is fairly common in people with CMT. Neuropathic pain is often a symptom of CMT, though, like other symptoms of CMT, its presence and severity vary from case to case. 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.

Charcot-Marie-Tooth Disease Treatment Options

Often, the most important goal for patients with CMT 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. Appropriate footwear is also very important for people with CMT, but they often have difficulty finding well-fitting shoes because of their high arched feet and hammer toes.

Charcot-Marie-Tooth Disease Surgery

A final decision a patient can make is to have 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 to provide stability.