Charcot-Marie-Tooth Disease

Charcot-Marie-Tooth Disease (CMT) is one of the most common inherited nerve disorders.

It is caused by inherited gene mutations that affect the structure and function of the nerves that serve the hands, feet, arms, and legs.

CMTs is named after the three doctors who first identified it in the late 1800’s.

Another name for it is “hereditary sensory and motor neuropathy.” It runs in families and affects almost 2.6 million people world wide.

Sometimes the CMT gene mutation damages the protective coating that surrounds a nerve called the myelin sheath, and other times it’s the nerve itself that is damaged.

Either way the messages that travel between the brain and the extremities are weaker, and the end result is the same.

Jeana Sweeney, Director of Community Services for the Charcot-Marie-Tooth Association, recently shared her experience with CMT and offered firsthand advice on how to deal with the challenges it brings.

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“I consider myself a lucky diagnosis,” said Sweeny, who he has lived with the diagnosis of CMT for 28 years.

“I started falling at the age of 8 and I was very clumsy as a child Every time I fell, I broke my foot or sprained my ankles. This is sad to say, but they knew my name in the ER!” she related.

“My parents decided to take me to an orthopedic and I was diagnosed at the first visit – which does not happen. I have had many surgeries on my feet since.”

Clues to Consider

The signs and symptoms of CMT are due to decreased nerve function and include:

  • Decreased sensation in the legs and feet
  • Frequent tripping or falling
  • High foot arches

 

  • Difficulty lifting your foot at the ankle (foot drop) 

  • Curled toes (hammertoes) 

  • Loss of muscle bulk in legs and feet 

  • Awkward or higher than normal step (gait) 

  • Numbness in legs and feet 

  • Decreased ability to run 

  • Weakness in legs, ankles, and feet 

Therapy Options

Although she lives with pain and fatigue, Sweeny says eating a healthy diet with lots of protein, and working out 3 days a week has helped her to stay strong.

There is no pharmacological therapy for CMT. The only treatment includes physiotherapy and surgery for the skeletal deformities and tight tendons.

There generally is no pain with CMT, although there may be some pain caused by nerve damage or muscle cramps. Pain medication and/or the following therapies may be instituted to help manage the discomfort: 

Physical Therapy
Muscle strengthening and stretching exercises are integral to physical therapy for many patients with CMT. Performed on a regular schedule low-impact exercises and stretching techniques can not only prevent muscle tightening and loss, but also delay nerve deterioration and muscle weakness before disability occurs.

Occupational Therapy

Normal daily activities may be difficult due to the weakness in arms and hands. There are certain assistive devices such as rubber grips on door knobs that occupational therapy can teach.

Orthopedic Devices

Stability can be maintained for some patients with orthopedic devices such as leg and ankle braces or splints. High top boots can provide additional ankle support, and shoe inserts may improve a dysfunctional gait. Thumb splints may help to grip or hold for those with hand weakness.

Patient Education

It is important to teach patients and/or families about lifestyle and home remedies that can improve their ability to manage the effects of this disorder. These simple at-home activities can provide protection and relief from the side effects of CMT:

  • Daily exercise
    • – Low impact exercises such as swimming and biking are less stressful on fragile muscle and joints, and performed daily can help keep muscle and bones strong. Having stronger muscles decreases risks of falling by improving balance and coordination.

 

  • Daily stretching
    • – Stretching improves flexibility, balance, and coordination and improves the range of motion in joints. It can also help prevent joint deformities from the uneven pulling of muscles on the bones.

 

  • Improve stability
    • – Encourage the use of a cane or walker to help increase stability. Also encourage the use of good lighting especially at night to avoid stumbles.

 

  • Podiatric Maintenance –
    • As foot deformities and loss of sensation can contribute to complications. Encourage patients to inspect their feet daily for ulcers, wounds or infections. Teach them to cut their nails straight across to avoid ingrown toenails and avoid cutting into the nail bed edges. Brief daily cold and warm foot soaks, and the application of moisturizing lotions can help reduce neuropathy pains and foot discomfort. Also teach patients about wearing the right foot wear. They should choose high top shoes or boots for ankle support, and assure that they are roomy and not too tight.

 

Finally, teach patients and/or their families about the different support groups in their area such as the Charcot-Marie-Tooth Association (http://www.cmtausa.org/), which offers general information, current updates on research, and send out quarterly newsletters.

The challenges of CMT both individually and on a family can be great, and an organization like CMT can help people learn how to cope with these challenges, while allowing them to share their feelings and fears with others who may have experienced the same problems.

Sweeney says the greatest challenges that she has encountered so far is not only being a mom with CMT, but also having a child with CMT; and that the best way she has found to deal with it is with good communication.

“I have always talked with my kids about CMT so that they understand why it takes me a little longer to button up their coat, or why I don’t run up the driveway.”

Melissa Moye is a staff nurse at North Florida Regional Medical Center in Gainesville.

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