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Charcot-Marie-Tooth disease (CMT) is a group of inherited neurological disorders involving the peripheral nerves. Peripheral nerves are outside the brain and spinal cord, and govern the motor and sensory capabilities in the limbs (such as walking). CMT’s estimated prevalence in the general population is 1 out of 2,500 (0.04%).

CMT is caused by congenital mutations in genes involved with the structure and function of the nerves governing feet, legs, hands and arms. There is no single faulty gene and there are many varieties of CMT caused by different genetic faults.

Charcot-Marie-Tooth disease symptoms

CNT usually develops between 5 and 15 years old, but it may develop later. Foot deformities may occur, and the lower legs may have an “inverted champagne bottle” appearance as muscle bulk is lost. As the disease gradually progresses, weakness and loss of fine motor skills may occur, with pain ranging from mild to severe.

Charcot-Marie-Tooth disease diagnosis

A neurologist can diagnose CMT after nerve conduction studies, electromyography to measure the electrical activity of muscles, and sometimes by nerve biopsy.

Charcot-Marie-Tooth disease treatment options

Although Charcot-Marie-Tooth disease cannot be cured, it can be managed with physical therapy, braces, pain medication and surgery. Osteotomy and treatment with an external fixation device can help to reverse foot and joint deformities, aiding support and strength.

Charcot-Marie-Tooth disease complications

Left untreated, CMT leads to pain and difficulty walking, which decrease everyday activity levels and adversely affect quality of life. Foot wounds, foot fractures and more-severe deformities of the foot and ankle may also occur.