Disease: Charcot-Marie-Tooth disease


    Charcot (shahr-KOH)-Marie-Tooth disease is a group of inherited disorders that cause nerve damage. This damage is mostly in your arms and legs (peripheral nerves). Charcot-Marie-Tooth is also called hereditary motor and sensory neuropathy.

    Charcot-Marie-Tooth disease results in smaller, weaker muscles. You may also experience loss of sensation and muscle contractions, and difficulty walking. Foot deformities such as hammertoes and high arches are also common. Symptoms usually begin in your feet and legs, but they may eventually affect your hands and arms.

    Symptoms of Charcot-Marie-Tooth disease typically appear in adolescence or early adulthood, but may also develop in midlife.

    Source: http://www.mayoclinic.com


    Signs and symptoms of Charcot-Marie-Tooth disease may include:

    • Weakness in your legs, ankles and feet
    • Loss of muscle bulk in legs and feet
    • High foot arches
    • Curled toes (hammertoes)
    • Decreased ability to run
    • Difficulty lifting your foot at the ankle (footdrop)
    • Awkward or higher than normal step (gait)
    • Frequent tripping or falling
    • Decreased sensation or a loss of feeling in your legs and feet

    As Charcot-Marie-Tooth disease progresses, symptoms may spread from the feet and legs to the hands and arms. The severity of symptoms can vary greatly from person to person, even among family members.

    Source: http://www.mayoclinic.com


    Charcot-Marie-Tooth disease is an inherited, genetic condition. It occurs when there are mutations in the genes that affect the nerves in your feet, legs, hands and arms.

    Sometimes, these mutations damage the nerves. Other mutations damage the myelin sheath, the protective coating that surrounds the nerve. Both cause weaker messages traveling between your extremities and brain.

    That means some of the muscles in your feet may not receive your brain's signal to contract, so you're more likely to trip and fall. And your brain may not receive pain messages from your feet, so if you've rubbed a blister on your toe, for example, it may get infected without your realizing it.

    Source: http://www.mayoclinic.com


    During the physical exam, your doctor may check for:

    • Signs of muscle weakness in your arms, legs, hands and feet
    • Decreased muscle bulk in your lower legs, resulting in an inverted champagne bottle appearance
    • Reduced reflexes
    • Sensory loss in your feet and hands
    • Foot deformities, such as high arches or hammertoes
    • Other orthopedic problems, such as mild scoliosis or hip dysplasia

    Your doctor may also recommend the following tests, which can help provide information about the extent of your nerve damage and what may be causing it.

    • Nerve conduction studies. These tests measure the strength and speed of electrical signals transmitted through your nerves. Electrodes on the skin deliver small electric shocks to stimulate the nerve. Delayed or weak responses may indicate a nerve disorder such as Charcot-Marie-Tooth disease.
    • Electromyography (EMG). A thin needle electrode is inserted through your skin into the muscle. Electrical activity is measured as you relax and as you gently tighten the muscle. Your doctor may be able to determine the distribution of the disease by testing different muscles.
    • Nerve biopsy. A small piece of peripheral nerve is taken from your calf through an incision in your skin. Laboratory analysis of the nerve distinguishes Charcot-Marie-Tooth disease from other nerve disorders.
    • Genetic testing. These tests, which can detect the most common genetic defects known to cause Charcot-Marie-Tooth disease, are done by blood sample. Genetic testing may give people with the disorder more information for family planning. Recent advances in genetic testing have made it more affordable and comprehensive. It's important to have genetic counseling before undergoing genetic testing so you know the pros and cons of testing.

    Source: http://www.mayoclinic.com


    Complications of Charcot-Marie-Tooth disease vary in severity from person to person. Foot abnormalities and difficulty walking are usually the most serious problems. Muscles may get weaker, and you may injure areas of the body that experience decreased sensation.

    You may also experience difficulty breathing, swallowing or speaking if the muscles that control these functions are affected by Charcot-Marie-Tooth disease.

    Source: http://www.mayoclinic.com

    Lifestyle and home remedies

    Some habits may prevent complications caused by Charcot-Marie-Tooth disease and help you manage its effects.

    Started early and followed regularly, at-home activities can provide protection and relief:

    • Stretch regularly. Stretching can help improve or maintain the range of motion of your joints and reduce the risk of injury. It's also helpful in improving your flexibility, balance and coordination. If you have Charcot-Marie-Tooth disease, regular stretching can prevent or reduce joint deformities that may result from uneven pulling of muscle on your bones.
    • Exercise daily. Regular exercise keeps your bones and muscles strong. Low-impact exercises, such as biking and swimming, are less stressful on fragile muscles and joints. By strengthening your muscles and bones, you can improve your balance and coordination, reducing your risk of falls.
    • Improve your stability. Muscle weakness associated with Charcot-Marie-Tooth disease may cause you to be unsteady on your feet, resulting in falls and serious injury. Walking with a cane or a walker can increase your stability. Good lighting at night can help you avoid stumbling and falling.

    Foot care is important

    Because of foot deformities and loss of sensation, regular foot care is important to help relieve symptoms and to prevent complications:

    • Inspect your feet. Check them daily to prevent calluses, ulcers, wounds and infections.
    • Take care of your nails. Cut your nails regularly. To avoid ingrown toenails and infections, cut straight across and avoid cutting into the nailbed edges. A podiatrist can trim toenails for you if you have problems with circulation, sensation, and damage to the nerves in your feet. Your podiatrist also may be able to recommend a salon to safely trim your toenails.
    • Wear the right shoes. Choose properly fitting, protective shoes. Consider wearing boots or high-top shoes for ankle support. If you have foot deformities, such as a hammertoe, explore having shoes custom made.

    Source: http://www.mayoclinic.com

    Coping and support

    Support groups, in conjunction with your doctor's advice, can be valuable in dealing with Charcot-Marie-Tooth disease. Support groups bring together people who are coping with the same kinds of challenges, and offer a setting in which people can share common problems.

    Ask your doctor about support groups in your community. The Internet and your local health department, public library and telephone book also may be good sources to find a support group in your area.

    Source: http://www.mayoclinic.com

    Risk factors

    Charcot-Marie-Tooth disease is hereditary, so you're at higher risk of developing the disorder if anyone in your immediate family has had the disease. Other causes of neuropathies, such as diabetes, may cause symptoms similar to or worsen Charcot-Marie-Tooth disease.

    Source: http://www.mayoclinic.com

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