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Charcot-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 disease 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 also are 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.
Symptoms
Signs and symptoms of Charcot-Marie-Tooth disease may include:
- • Weakness in your legs, ankles and feet
- • Loss of muscle bulk in your 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.
Causes
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 protective coating that surrounds the nerve (myelin sheath). Both cause weaker messages to travel 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.
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.
Other causes of neuropathies, such as diabetes, may cause symptoms similar to or worsen those of Charcot-Marie-Tooth disease. Also, medications such as the chemotherapy drugs vincristine (Marqibo), paclitaxel (Abraxane, Taxol) and others can make symptoms worse. Be sure to let your doctor know about all of the medications you’re taking.
Complications
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.
Diagnosis
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.
Treatment
There's no cure for Charcot-Marie-Tooth disease. But the disease generally progresses slowly, and it doesn't affect expected life span.
There are some treatments to help you manage Charcot-Marie-Tooth disease.
Medications
Charcot-Marie-Tooth disease may sometimes cause pain due to muscle cramps or nerve damage. If pain is an issue for you, prescription pain medication may help control your pain.
Therapy
- Physical therapy. Physical therapy can help strengthen and stretch your muscles to prevent muscle tightening and loss. A program usually includes low-impact exercises and stretching techniques guided by a trained physical therapist and approved by your doctor. Started early and followed regularly, physical therapy can help prevent disability.
- Occupational therapy. Weakness in the arms and hands can cause difficulty with gripping and finger movements, such as fastening buttons or writing. Occupational therapy can help through the use of assistive devices, such as special rubber grips on doorknobs or clothing with snaps instead of buttons.
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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 while walking and climbing stairs.
Consider boots or high-top shoes for additional ankle support. Custom-made shoes or shoe inserts may improve your gait. Consider thumb splints if you have hand weakness and difficulty with gripping and holding things.
Surgery
If foot deformities are severe, corrective foot surgery may help alleviate pain and improve your ability to walk. Surgery can't improve weakness or loss of sensation.
Potential future treatments
Researchers are investigating a number of potential therapies that may one day treat Charcot-Marie-Tooth disease. Potential therapies include medications, gene therapy and in vitro procedures that may help prevent passing the disease to future generations.
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 may also 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.