The Charcot-Marie-Tooth disease

Description

Charcot (shahr-KOH)-Marie-Tooth disease is a group of disorders that cause damage to the nerves. This damage is mainly in the arms and legs (peripheral nerves). The Charcot-Marie-Tooth disease is also called hereditary motor and sensory neuropathy.

The 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. The symptoms usually begin in the feet and legs, but that in the long run can affect the hands and arms.

The symptoms of Charcot-Marie-Tooth disease usually appear in adolescence or early adulthood, but it can also develop in mid-life.

Symptoms

The signs and symptoms of Charcot-Marie-Tooth disease may include:

  • Weakness in the legs, ankles and feet
  • The loss of muscle mass in the legs and feet
  • The foot arches
  • Curled toes (hammer toes)
  • Decreased ability to run
  • Difficulty lifting the foot at the ankle (footdrop)
  • Awkward or higher than normal step (gait)
  • Frequent tripping or falls
  • Decreased sensation or loss of sensation in the legs and feet

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

Causes

The Charcot-Marie-Tooth disease is a hereditary disease, genetic disease. Occurs when there are mutations in the genes that affect the nerves of the feet, legs, hands and arms.

Sometimes, these mutations produce nerve damage. Other mutations damage the protective layer that surrounds the nerve (the myelin sheath). The cause weaker of the messages to travel between their extremities and the brain.

Risk factors

The Charcot-Marie-Tooth disease is hereditary, so that you are at increased risk of developing the disorder if someone in your immediate family has the disease.

Other causes of neuropathies, such as diabetes, can cause symptoms similar to the disease Charcot-Marie-Tooth disease. These other conditions can also cause the symptoms of Charcot-Marie-Tooth disease from getting worse. Medications such as chemotherapy drugs vincristine (Marqibo), paclitaxel (Abraxane) and others can make the symptoms worse. Make sure to tell your doctor about all the medicines you are taking.

Complications

The complications of Charcot-Marie-Tooth disease vary in severity from person to person. Foot abnormalities and difficulty walking are usually the most serious problems. The muscles can get weaker, and you may be injured areas of the body that experience decreased sensation.

Sometimes the muscles of your feet may not receive your brain the signal to contract, so that it is more likely to trip and fall. And your brain is unable to receive messages of pain relief for your feet, so that if you rubbed a blister on the finger of the foot, for example, can be infected without your realizing it.

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

The Charcot-Marie-Tooth disease

Diagnosis

During the physical exam, your doctor can check:

  • Signs of muscle weakness in the arms, legs, hands and feet
  • The decrease of muscle mass in the legs, resulting in a sense, champagne bottle appearance
  • Decreased reflexes
  • Loss of sensation in the feet and hands
  • Foot deformities such as high arches or hammertoes
  • Other orthopedic problems, such as scoliosis or hip dysplasia

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

  • Nerve conduction studies. These tests measure the force and speed of the electrical signals transmitted through your nerves. The electrodes on the skin to deliver a small electric shock to stimulate the nerve. Delay or weak, the responses may indicate a disorder of the nerves, such as Charcot-Marie-Tooth disease.
  • Electromyography (EMG). A thin needle electrode is inserted through your skin into the muscle. The electrical activity is measured as you relax and gently tighten the muscle. Your doctor may be able to determine the distribution of the disease by testing different muscles.
  • In the nerve biopsy. A small piece of peripheral nerve is taken from the calf through an incision in the skin. The laboratory analysis of the nerves that distinguishes the Charcot-Marie-Tooth disease other disorders of the nerves.
  • The genetic testing. These tests, which can detect the most common genetic defects known to cause Charcot-Marie-Tooth disease, is done with a blood sample. Genetic testing can provide people with the disorder more information for the planning of the family. You can also rule out other neuropathies. Recent advances in genetic testing has become more affordable and complete. Your doctor may refer you to a genetic counselor before testing, so that you can better understand the pros and cons of testing.

Treatment

There is No cure for the Charcot-Marie-Tooth disease. But usually, the disease progresses slowly and does not affect the life expectancy.

There are some treatments to help manage the disease Charcot-Marie-Tooth disease.

Drugs

The Charcot-Marie-Tooth disease can sometimes cause pain due to muscle cramps or nerve. If the pain is a problem for you, pain medications can help control your pain.

Therapy

  • The physical therapy. Physical therapy can help strengthen and stretch the muscles to prevent muscle stiffness and loss. A program usually includes low-impact exercises and stretching techniques guided by a professional physical therapist and approved by your doctor. Started early and followed regularly, physical therapy can help to prevent disability.
  • Occupational therapy. Weakness in the arms and hands can cause difficulty with the type of grip, and the movements of the fingers, such as fastening buttons, or writing. Occupational therapy can help through the use of assistive devices, such as special rubber coating on the handles of the doors, 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 the daily mobility and prevent injuries. The leg and ankle braces or splints can provide stability when walking and climbing stairs. Consider the possibility of boots or high-top shoes on ankle for additional support. Custom-made shoes or orthotics can improve their gait. Consider the possibility of thumb splints if you have weakness of the hands and the difficulty grasping and holding things.

Orthopedic devices. Many people with Charcot-Marie-Tooth disease require the help of certain orthopedic devices to maintain the daily mobility and prevent injuries. The leg and ankle braces or splints can provide stability when walking and climbing stairs.

Consider the possibility of boots or high-top shoes on ankle for additional support. Custom-made shoes or orthotics can improve their gait. Consider the possibility of thumb splints if you have weakness of the hands and the difficulty grasping and holding things.

Surgery

If the foot deformities are severe, corrective foot surgery can help relieve pain and improve walking ability. The surgery may not improve weakness or loss of sensation.

Potential future treatments

Researchers are investigating a number of potential therapies that could one day be the treatment of Charcot-Marie-Tooth disease. Possible treatments include medications, gene therapy, and in vitro procedures that can help to prevent the spread of the disease to future generations.

Self-care

Some habits can prevent the complications caused by the disease Charcot-Marie-Tooth disease and help control its effects.

Started early and followed regularly, activities to do at home that can provide protection and relief:

  • Stretch regularly. The stretching exercises can help to improve or maintain the range of motion of the joints and reduce the risk of injury. It is also helpful in improving flexibility, balance and coordination. If you have Charcot-Marie-Tooth disease, regular stretching can prevent or reduce joint deformities that can result from uneven pulling of the muscles on the bones.
  • The daily exercise. Regular exercise keeps bones and muscles strong. Low-impact exercises, such as cycling and swimming, are less stressful fragile muscles and joints. By strengthening the 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 can cause you to be unsteady on their feet, resulting in falls and serious injury. Walking with a cane, or a walker can increase their stability. A good lighting at night can help prevent trips and falls.

Foot care is important

Due to the deformities in the feet and loss of sensation, regular foot care is important to help relieve symptoms and prevent complications:

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

Coping and support

Support groups, in conjunction with the advice of your doctor, can be very valuable in the treatment of Charcot-Marie-Tooth disease. Support groups bring together people who are faced with the same kinds of challenges, and offer an environment in which people can share common problems.

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

Preparing for your appointment

You can talk about your symptoms with your family doctor, but he or she will probably refer you to a neurologist for further evaluation.

Because there is a lot to talk about in a short period of time, try to get well prepared. Here's some information to help you prepare for your appointment and know what to expect from your doctor.

What you can do

  • Be aware of any pre-appointment restrictions. At the time you make the appointment, be sure to ask if there is anything that you need to do in advance, such as restrict your diet.
  • Write down any symptoms you're experiencing, including any that may seem unrelated to the reason for which you scheduled the appointment.
  • Make a list of all medications, vitamins or supplements you are taking.
  • Ask a family member or friend to come with you, if possible. Sometimes it can be difficult to remember all the information provided to you during an appointment. Someone who accompanies you may remember something that you missed or forgot.
  • Write questions to ask their doctor.
  • Ask your family if they know of other family members with similar symptoms.

Your time with your doctor is limited, so try to prepare a list of questions. For the Charcot-Marie-Tooth disease, some basic questions to ask your doctor include:

  • What is the most likely cause of my symptoms?
  • What kinds of tests do I need? Do these tests require any special preparation?
  • Is this condition goes away, or will I forever?
  • What treatments are available, and which do you recommend for me?
  • What are the possible side effects of treatment?
  • I have other health conditions. How can I best manage these conditions?
  • I need to continue any activity restrictions?
  • Are there brochures or other printed material that I can take my house? What sites do you recommend to visit?

What to expect from your doctor

Your doctor may ask you a series of questions. Be ready to answer them may reserve time to go over any points you want to spend more time on. Your doctor may ask:

  • When did you begin experiencing symptoms?
  • How severe are the symptoms?
  • Do you have symptoms all the time, or come and go?
  • Nothing seems to improve the symptoms?
  • Does anything make your symptoms worse?
  • Does anyone in your family has symptoms similar?
  • Have you or other members of your family had genetic testing to confirm the diagnosis?
Symptoms and treatment of the Charcot-Marie-Tooth disease