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Charcot-Marie-Tooth Disease

Definition


Disease: Charcot-Marie-Tooth Disease Charcot-Marie-Tooth Disease
Category: Genetic Diseases
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Disease Definition:

The group of hereditary disorders that affect the nerves in the legs and arms causing muscle weakness, decreased sensation and decreased muscle bulk, is referred to as Charcot-Marie-Tooth disease. Symptoms tend to worsen very slowly over time, and even among family members these symptoms may vary widely in severity.

The arms and hands may be eventually affected by Charcot-Marie-Tooth disease, though this condition usually begins in the legs and feet. In Charcot-Marie-Tooth disease, foot deformities such as high arches and hammertoes are common. Walking may become difficult because of muscle weakness and loss of balance.

Charcot-Marie-Tooth disease affects about one person in 2,500. In adolescence or early adulthood is when the symptoms of Charcot-Marie-Tooth disease typically appear.

Work Group:


Prepared by: Scientific Section

Symptoms, Causes

Symptoms:

Here are the signs and symptoms of Charcot-Marie-Tooth disease:

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


Symptoms of Charcot-Marie-Tooth disease may involve the arms, hands and thighs as well because they may not be limited to the feet and legs as this condition progresses.

Causes:

The inherited mutations in the genes that are involved with the structure and function of the nerves that serve the arms, hands, legs and feet is the cause of Charcot-Marie-Tooth disease. These mutations may sometimes cause damage to the nerve itself.

The myelin sheath, which is the protective coating that surrounds the nerve, is damaged by other mutations. Anyway, the end result in both cases is weaker message traveling between the extremities and the brain. So one is more likely to trip and fall as some of the muscles in his/her feet may not receive the brain's signal to contract. Another example; when rubbing a blister on the toe, it may get infected without the patient knowing it, as the brain may not receive pain messages from the feet.  
 
A person will be at higher risk of developing Charcot-Marie-Tooth disease when having anyone in his/her immediate family that has had the disease, as the disease is hereditary.

Complications

Complications:

With difficulty walking and foot abnormalities generally being the most serious problems, complications of Charcot-Marie-Tooth disease (CMT) vary in severity from one person to another. Injury to areas of the body with decreased sensation may occur and muscle weakness may increase.

Treatments:

Signs and symptoms of Charcot-Marie-Tooth disease can be managed by some treatments, even though the disease is not curable.


Therapy:

Orthopedic devices: To prevent injury and to maintain everyday mobility, the help of certain orthopedic devices is required by many people with Charcot-Marie-Tooth disease. During climbing stairs and walking, ankle and leg braces or splints can provide stability. Additional ankle support may be provided by wearing high-top shoes or boots. The patient's gait may be improved by shoe inserts or custom-made shoes. Thumb splints may help when having hand weakness and difficulty with holding and gripping objects.

Physical therapy: To prevent muscle loss and tightening, muscle stretching and strengthening are involved in physical therapy for Charcot-Marie-Tooth disease. Stretching techniques and low-impact exercises approved by the doctor and guided by a trained physical therapist are usually involved in a physical therapy program. Before disability occurs, physical therapy can play an important part in delaying muscle weakness and nerve deterioration, if it is started early and followed regularly.

Occupational therapy: Causing difficulty with gripping and finger movement, weakness in the hands and arms may be experienced in some people with Charcot-Marie-Tooth disease. It may be difficult to do normal daily activities, such as writing or fastening buttons. Through the use of assistive devices, such as clothing with snaps instead of buttons or special rubber grips on doorknobs, occupational therapy can help the patient deal with such challenges.

Medications:

The pain associated with Charcot-Marie-Tooth disease can be severe in some cases, and to control it, prescription pain medication may be required.

Surgery:

Even though loss of sensation or weakness can't be improved by surgery, corrective foot surgery may help improve one's ability to walk and alleviate pain in the case when foot deformities are severe.

Prognosis:

Not Available

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