Charcot Marie Tooth Disease

Charcot Marie Tooth Disease (CMT) is an inherited nerve condition that impacts motor and sensory nerves throughout the body. Sensory nerves deliver sensations like temperature and pain to the brain. CMT is a common problem that is not life threatening and rarely affects the brain.

Cause

Charcot Marie Tooth Disease (CMT) is a chromosome mutation that is passed on by one or both parents. CMT targets the protective sheath of the peripheral nerves, which deliver signals between the spinal cord and the rest of the body. When this occurs, the peripheral nerves do not function properly and are susceptible to damage.

Symptoms

Symptoms of Charcot Marie Tooth Disease (CMT) vary. CMT usually starts in adolescence or early adulthood and impacts the feet and legs. Over time, the disease may progress to the hands and arms. Pain, numbness, and muscle weakness are all common. CMT may lead to problems with balance and coordination. Foot deformities like high arch and hammertoe, partial vision loss, and scoliosis of the spine are also possible.

Diagnosis

Charcot Marie Tooth Disease (CMT) is usually diagnosed by a neurologist. In addition to a physical exam and a review of family medical history, patients can expect blood tests to identify genetic conditions, nerve conduction studies, and nerve biopsies.

Treatment

Although there is no cure for Charcot Marie Tooth Disease (CMT), there are several treatment options. Physical therapy to help strengthen muscles, occupational therapy to assist with daily activities, and pain medications are all effective. Orthopedic devices such as braces and boots may also help. In some cases, surgery may be required to correct deformities.