Coping with Charcot-Marie-Tooth Disease
You have always been a little clumsy but lately it has gotten a little worse. You are practically tripping over your feet every minute. Your gait is a little off where you can’t lift your foot all the way up. You could have Charcot-Marie-Tooth disease.
Charcot-Marie-Tooth (CMT) disease is a little known and often disabling hereditary neurological disease named after the three physicians who described it around the turn of the century.
The disease first attacks nerves controlling the muscles in the lower leg, then those of the forearm muscles. It is also called peroneal muscular atrophy—the peroneal muscles on the front of the leg below the knee raise the foot. With the nerves damaged, the muscles lose function.
CMT, also known as hereditary motor and sensory neuropathy, is one of the most common inherited neurological disorders, affecting an estimated 126,000 individuals in the United States and 2.6 million people worldwide. Nearly all cases are inherited.
CMT is the most common peripheral nerve disease. Peripheral nerves are the ones transmitting brain messages to muscles.
A genetic quirk causes fraying of insulation wrapped around nerves. In turn, that short-circuits messages to muscles. The foot and lower legs are the principal targets, but the hand and forearm also can be involved.
The first inkling of trouble might be frequent tripping, resulting in sprained ankles. As the process evolves, the patient finds it difficult to raise his foot off the ground. The foot flops down. Lower leg muscles shrink. Balance problems emerge.
CMT causes the nerve cells leading to the extremities to slowly degenerate and also results in deformities such as hammertoes, high arches and back problems. From the knees and elbows down, one might experience weakness, pain, cramps, numbness, tingling, burning and Parkinson’s-like tremors.
Most CMT patients may have to wear braces. They may also have a problem with the muscle between the thumb and forefinger which might make doorknobs, light switches and bottles and jars challenging.
There is no cure, it’s true, but there are many ways to keep a patient active. Braces that stabilize the ankle and foot keep most patients ambulatory.
The disease’s progression can be unpredictable. Most patients live a full life span in spite of their limitations. While the disease does not reduce life expectancy, it can lead to lung disease.
In the case of CMT, every one of your cells holds some DNA, which they use like an instruction manual, telling them how to do their jobs. A DNA mutation is like a typo in your DNA. Your cells follow the instructions in your DNA very strictly, so mutations cause your cells to work incorrectly.
CMT can involve mutations in one gene or several. Experts have identified several dozen different gene mutations that can cause different forms of CMT.
Patients are encouraged to be more active in order to slow the disease progression. One strategy for staying mobile as long as possible is to make sure the muscles in the upper legs, stomach, back and shoulders stay strong to compensate for those that aren’t working properly.
Overall, the attitude with which people approach the disease seems to be related to how much the disease affects them. The people who face it with dogged determination, figuring out a way to go on with life, tend to fare better than people who sit on the sofa and give up.
