Charcot-Marie-Tooth disease

Charcot -Marie-Tooth disease is a group of hereditary disorders that damage the nerves in your arms and legs (peripheral nerves). Charcot-Marie-Tooth is also known as hereditary motor and sensory neuropathy. The main signs and symptoms of Charcot-Marie-Tooth disease are muscle weakness and decreased muscle size. You may also notice decreased sensation in affected areas. Foot deformities such as hammertoes and high arches are common in Charcot-Marie-Tooth disease. Symptoms usually begin in your feet and legs, but they may eventually affect your hands and arms. Muscle weakness and loss of balance can make walking difficult. Symptoms of Charcot-Marie-Tooth disease typically appear in adolescence or early adulthood, but this condition can develop in midlife too. Symptoms 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 not be limited to the feet and legs but may also involve the hands and arms. The severity of symptoms can vary greatly from person to person. This is true even among family members. Causes Charcot-Marie-Tooth disease is a group of related conditions all caused by inherited mutations in genes involved with the structure and function of the nerves that serve your feet, legs, hands and arms. In some cases, these genetic mutations result in damage to the nerve itself. Other mutations damage the myelin sheath, the protective coating that surrounds the nerve. The end result, however, is the same weaker messages traveling between your extremities and your 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. 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 of or worsen Charcot-Marie-Tooth disease. Complications Complications of Charcot-Marie-Tooth disease vary in severity from person to person, with foot abnormalities and difficulty walking generally being the most serious problems. Muscle weakness may also increase, and injury to areas of the body with decreased sensation may occur. Tests and diagnosis During the physical exam, 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

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 are placed on your skin and deliver small electric shocks that 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 to be tested. 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 the calf of your leg 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. It's

important to have genetic counseling before undergoing genetic testing so you know the pros and cons of testing. Therapy

Occupational therapy. Some people with Charcot-Marie-Tooth disease may experience weakness in their arms and hands, causing difficulty with gripping and finger movement. Normal daily activities, such as fastening buttons or writing, can become difficult. Occupational therapy can help you deal with such challenges through the use of assistive devices, such as special rubber grips on doorknobs or clothing with snaps instead of buttons. Orthopedic devices. Many people with Charcot-Marie-Tooth disease require the help of certain orthopedic devices to maintain everyday mobility and to prevent injury. Leg and ankle braces or splints can provide stability during walking and climbing stairs. Wearing boots or high-top shoes may provide additional ankle support. Custommade shoes or shoe inserts may improve your gait. If you have hand weakness and difficulty with gripping and holding things, thumb splints may help. Lifestyle and home remedies

Stretch regularly. The goal of stretching is to improve or maintain the range of motion of your joints. Stretching improves your flexibility, balance and coordination. Stretching may also reduce your risk of injury. 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. Exercising every day 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, which can lead to falling 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. Daily inspection of your feet is important 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. If you have trouble with this task, consider having your nails trimmed by a foot doctor (podiatrist). Wear the right shoes. Use shoes that fit properly and are protective. Consider wearing boots or high-top shoes for ankle support. If you have foot deformities, such as a hammertoe, you may need to consider having shoes custom made.