Charcot Marie Tooth (CMT) is an inherited neurological disease characterized by the gradual degeneration of nerves which starts in the hands and feet and results in progressive numbness, muscle weakness and loss of function. Type 1E involves the usual CMT symptoms as well as deafness. There are over 40 types of Charcot-Marie-Tooth disease. Charcot-Marie-Tooth disease is the most common inherited disorder that involves the peripheral nerves, affecting an estimated 150,000 people in the United States. It occurs in populations worldwide with a prevalence of about 1 in 2,500 individuals.
Charcot Marie Tooth disease (CMT)
Symptoms of Charcot-Marie-Tooth disease typically appear in adolescence or early adulthood, but this condition can develop in midlife too. Symptoms usually begin in your feet and legs, but they may eventually affect your hands and arms. The severity of symptoms can vary greatly from person to person. This is true even among family members
Signs and symptoms of Charcot-Marie-Tooth disease may include:
Charcot-Marie-Tooth disease is caused by mutations in many different genes. These genes provide instructions for making proteins that are involved in the function of peripheral nerves in the feet, legs, and hands. The gene mutations that cause Charcot-Marie-Tooth disease affect the function of the proteins in ways that are not fully understood; however, they likely impair axons, which transmit nerve impulses, or affect the specialized cells that produce myelin. As a result, peripheral nerve cells slowly lose the ability to stimulate the muscles and to transmit sensory signals to the brain.
There is currently no cure for Charcot-Marie-Tooth disease, but physical therapy, occupational therapy, braces and other orthopedic devices, pain medication, and orthopedic surgery can help manage and improve symptoms