Medical Edge Newspaper Column

Adapting To Life With Charcot-Marie-Tooth Disease

February 4, 2008
Dear Mayo Clinic:
My husband was diagnosed with Charcot-Marie-Tooth disease about three years ago. He's 71 and cannot stand without holding onto something. He is having more and more difficulty walking. Is there anything that might help him since there is no cure?

Answer:
Charcot-Marie-Tooth disease actually refers to a group of common, inherited neurological disorders that result in similar symptoms. Named for the three physicians who described the condition in 1886, Charcot-Marie-Tooth (CMT) is also referred to as hereditary motor and sensory neuropathy (HMSN). This group of diseases damages the peripheral nerves, located outside the brain and spinal cord, weakening muscles, reducing muscle size and, in some cases, causing a loss of sensation. The nerve damage (neuropathy) that CMT causes currently can't be repaired, but there are ways to manage the signs and symptoms, as well as prevent injury.

As in your husband's situation, CMT often affects a person's lower legs, ankles and feet. Stabilizing his ankles may help with lack of strength and difficulty walking. Footwear that provides ankle support, such as lightweight lace-up boots, may be enough. If not, a prescription orthopedic ankle brace also can help. But, for some people, braces are problematic because while they aid in stability, they reduce flexibility. So, walking up stairs or on uneven surfaces, for example, may be even more difficult.

In addition to stabilizing his ankles with external support, your husband may benefit from keeping the other muscles of his legs and ankles strong. Although muscles that have already been affected by nerve damage don't recover, strengthening the surrounding muscles can increase stability. Maintaining a healthy body weight is also important, as extra weight can further tax weak muscles and the joints they support.

Your husband should talk with his physician about beginning a program of low-impact exercises to strengthen the other muscles and increase their flexibility without hurting compromised joints. Physical medicine and rehabilitation specialists may be helpful in outlining specific recommendations.

For some people with CMT, a loss of sensation makes balance and walking difficult because they can't feel their feet. Being alert to visual cues can make walking easier. To help, make sure the lighting in your home is adequate, use night-lights to reduce the risk of stumbling and tripping, and remove items, such as throw rugs, that can create a fall hazard.

Loss of sensation also can increase the risk of painless foot injuries. If your husband has lost some of the feeling in his feet or ankles, it's important for him to inspect his feet daily. To avoid serious complications, he should see his doctor right away if he notices open sores, breaks in the skin, unexplained swelling or any other foot or ankle damage.

Generally, CMT progresses slowly over many years. If your husband's situation is deteriorating rapidly, he should see his doctor for an evaluation to rule out another underlying medical condition. People with CMT may be at greater risk for other forms of nerve damage from conditions such as diabetes and thyroid disease. Preventive care is key to avoiding additional nerve damage. For my CMT patients, depending on their age and health, I recommend a yearly physical evaluation that includes blood tests for diabetes and thyroid disease. Because good vision is critical for people with CMT to navigate their surroundings and maintain mobility, an annual eye exam is also a must in older patients.

The good news is that, with proper therapy and preventive care, most people with CMT don't lose their ability to walk and most are able to lead active lives.

— Christopher Klein, M.D., Neurology, Mayo Clinic, Rochester, Minn.