Charcot Marie Tooth

2021-08-03 10:29 PM

Weakness in the legs, atrophy of the leg muscles, curvature of the toes, decreased running ability, clumsy gait, decreased sensation in the legs, numbness in the legs and feet.

Define

Charcot Marie Tooth is a group of genetic disorders that affect the nerves in the hands and feet. The disease mainly causes muscle weakness and loss of large amounts of muscle with often decreased sensation. With Charcot Marie Tooth disease, symptoms in severity can vary widely, even among family members, but tend to gradually worsen over time.

Symptoms of Charcot Marie Tooth disease usually begin in the legs and feet, but can also gradually affect the hands and arms. Foot deformities such as clubbed toes and high arches are common in Charcot Marie Tooth disease. Weak muscles and imbalance can make walking difficult. Symptoms of Charcot Marie Tooth usually appear in adolescence or early adulthood, but late-onset also occurs.

Symptoms

Signs and symptoms of Charcot Marie Tooth may include:

Weakness in the legs, ankles, and feet.

Loss of large amounts of muscle in the legs and feet.

High arched feet.

Curved toes.

Reduced running ability.

Difficulty raising the foot.

Clumsy or unusual gait.

Frequent tripping.

Reduced sensation in the legs and feet.

Numbness in the legs and feet.

As Charcot Marie Tooth disease progresses, symptoms may not be limited to the feet and legs but may involve the thighs, hands, and arms. Charcot Marie Tooth disease is usually painless.

 

 

Causes

Charcot Marie Tooth disease is a group of signs caused by mutations in genes linked to inheritance with the structure and function of the nerves that serve the feet, legs, hands, and arms.

In some cases, these genetic mutations cause neurological damage. The mutation damages the myelin sheath, the protective coating that surrounds nerves.

That means some of the muscles in the legs may not be receiving signals from the brain.

Risk factors

Charcot Marie Tooth is an inherited disease, so there is a high risk of developing this disorder if anyone in your family has had it. Other causes, such as diabetes, can cause or worsen symptoms of Charcot Marie Tooth.

Complications

Complications of Charcot Marie Tooth disease vary in severity from person to person, with foot abnormalities and difficulty walking being the most serious problems. Muscle weakness may also increase, and damage to other areas of the body with decreased sensation may occur.

Testing and diagnosis

Your doctor may recommend testing that can help provide information about the extent of nerve damage and what might be causing it.

Neurotransmission study. This test measures the strength and speed of signals traveling through nerves. Electrodes are placed on the skin and deliver small electrical shocks that stimulate the nerves. Delay or weak response may indicate a neurological disorder such as Charcot Marie Tooth.

Electromyography (EMG). Electrodes are inserted through the skin into the muscle for examination. The doctor can determine the distribution of the disease by examining different muscles.

Nerve biopsies. A small piece of peripheral nerve is removed from the leg through an incision. Neurological analysis helps distinguish Charcot Marie Tooth disease from other neurological disorders.

Genetic testing. These tests can detect the most common genetic defect known to cause Charcot Marie Tooth, which is done by taking a blood sample. Genetic testing can give people with the disorder more information for family planning.

Treatments and drugs

There is no specific cure for Charcot Marie Tooth disease. However, some treatments can help manage its signs and symptoms.

Medicine. Although most people with Charcot Marie Tooth disease are painless, some people may experience pain from muscle spasms or damaged nerves. In this case, pain medication may be required to control it.

Therapy. Physical therapy for Charcot Marie Tooth disease involves strengthening and relaxing muscles to prevent muscle tension and atrophy. A physical therapy program typically includes low-impact exercises and stretching techniques, guided by a physician-designated and trained physical therapist. Initiating physical therapy early and often can play an important part in delaying neurologic deterioration and muscle weakness before disability occurs.

Occupational therapy. Some people with Charcot Marie Tooth disease may have hand and hand weakness, which causes difficulty with dexterity and finger movements in daily activities. Occupational therapy can help cope with challenges through the use of assistive devices.

Orthopedic devices. Many people with Charcot Marie Tooth disease need the help of some orthopedic device to maintain daily mobility and to prevent injury. Ankle and foot braces can help with stability during walking and climbing stairs. High boots can provide extra ankle support. Shoe inserts can improve gait. If there is weakness and difficulty with the hand when grasping and holding objects, a thumb brace can help.

Surgery. If the foot deformity is severe, foot correction surgery can help relieve pain and improve walking ability. But surgery may not be to improve weakness or loss of sensation.

Lifestyle and remedies

Several tactics can prevent complications caused by Charcot Marie Tooth disease and improve the ability to manage the effects of this disorder.

Starting activities early and often at home can protect and relieve:

Stretch joints regularly. The goal of stretching is to improve or maintain the range of motion of the joints. Stretching improves flexibility and coordination. Stretching can also reduce the risk of injury. If you have Charcot Marie Tooth disease, regular limb stretching can prevent or reduce joint deformity caused by uneven muscle pulling.

Daily exercise. Daily exercise keeps bones and muscles strong. Such as cycling and swimming, relieve muscle and joint strain. By strengthening muscles and bones, it is possible to improve balance and coordination, reducing the risk of falls.

Improved stability. Weak muscles associated with Charcot Marie Tooth disease can cause unsteadiness, which can lead to falls and serious injury. Walking with a cane can increase stability. Lighting at night can help prevent tripping and falling.

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

Check the feet. Checking your feet daily is important to prevent calluses, ulcers, wounds, and infections.

Toenail care. Trim toenails regularly. To avoid ingrown toenails and infection, cut them straight and avoid cutting the edges.

Wear suitable shoes. Use suitable shoes. Consider supportive ankle boots.

Soak and moisturize the skin of the feet. Warm feet on a cold day, followed by the use of creams that keep the skin of the feet moist and soft. This can be very effective in reducing pain and discomfort.