CMT caused by inherited mutations in genes
Q. My 40-year-old son was just diagnosed with Charcot-Marie-Tooth disease. What can he expect from this as he gets older?
Charcot-Marie-Tooth disease (CMT) was identified in 1886 by three physicians: Jean-Martin Charcot (sharr-KOE) and Pierre Marie in France, and Howard Henry Tooth in England. CMT is also known as hereditary motor and sensory neuropathy (HMSN). CMT is a group of related conditions all caused by inherited mutations in genes.
While you probably have never heard of it, CMT is one of the most common inherited neurological disorders. It affects about 1 in 2,500 people in the United States.
CMT impacts the peripheral nerves, the ones outside the brain and spinal cord. CMT affects both motor and sensory nerves.
Symptoms usually begin to show up in adolescence or early adulthood, but some people begin to develop symptoms later. The severity of symptoms varies even among family members with the disease.
There is a normal life expectancy for people with CMT.
CMT causes weakness, decreased muscle bulk and sensation in the feet and lower legs. The weakness can lead to deformities such as misshapen legs, high foot arches, curled toes, inverted heels and flat feet.
Muscle weakness can cause difficulty lifting your foot at the ankle (foot drop), a higher-than-normal step, tripping and falling.
The symptoms progress gradually. As the symptoms worsen, there can be weakness in the arms and hands. There is pain associated with CMT. In some cases, people with CMT have to use braces.
There is no cure for CMT. Symptoms are treated with physical therapy, occupational therapy, braces and other orthopedic devices. Sometimes, surgery is necessary.
Therapy involves strength training, muscle and ligament stretching, stamina training, and moderate aerobic exercise. Most therapists recommend low-impact exercises such as biking or swimming; they recommend against activities such as walking or jogging, which may put stress on muscles and joints.
Here's what you can do regularly at home if you have CMT:
• Stretch to improve your range of motion and reduce joint deformities.
• Exercise to keep your bones and muscles strong.
• Soak and moisturize your feet to reduce discomfort.
• Inspect your feet to prevent calluses, ulcers, wounds and infections.
• Cut your nails to avoid ingrown toenails and infections. Professional pedicures are a good idea.
• Wear shoes that fit and are protective. Consider wearing boots or high-top shoes for ankle support.
More information is available from: Charcot-Marie-Tooth Association (CMTA), P.O. Box 105 Glenolden, PA 19036; firstname.lastname@example.org; http://www.charcot-marie-tooth.org; (610) 499-9264; 800-606-CMTA (2682); Fax: (610) 499-9267.
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