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Charcot-Marie-Tooth Disease (CMT)

Charcot-Marie-Tooth (CMT), Discovered in 1886 by three physicians, Jean-Martin-Charcot, Pierre Marie, and Howard Henry Tooth, is the most commonly inherited neurological disorder which is found world-wide in all races and ethnic groups. This said, the general public still seems to be rather ignorant regarding this disease, its causes, affects and in general living with CMT.

Estimated 2.6 million people world-wide are affected by CMT. CMT is a deteriorating disease causing patients to slowly lose normal use of their feet/legs and hands/arms as nerves to the extremities degenerate, and the muscles in the extremities become weakened because of the loss of stimulation by the affected nerves.

Although CMT affects the hands and feet muscles it is not a disease of the muscles but a disease of the central nerves system causing muscle weakness. Messages sent by the brain to activate specific muscles do not reach their destination as it “leeks” between the brain and the feet or hands. Muscles lacking nerve stimulation become weak, sensation in hands and feet are lost causing walking and other physical problems.

CMT is hereditary and can be passed down from one generation to the next. In one generation the symptoms and affects of the disease may hardly be noticeable and in the next generation the affect on patients may be more severe.

Charcot-Marie-Tooth is usually inherited in an autosomal dominant pattern, which means if one parent has CMT there is a 50/50 chance of each child inheriting the disorder. The affects of the disease can vary greatly in severity, even within the same family.

Caution: CMT may become worse if certain neurotoxic drugs are taken; always consult with your neurologist before taking any drugs...

The disease is also known as peroneal muscular atrophy (PMA) and hereditary motor and sensory neuropathy (HMSN). This is often the preferred description as it spells out the different affected areas in the body more clearly.

CMT is a slowly progressive disease, causing deterioration of peripheral nerves which control sensory information and muscle function of the foot/lower leg and hand/forearm.

Symptoms of CMT:

- Degeneration of peroneal muscles located on the front of the leg below the knees.
- Foot-drop walking gait.
- Foot bone abnormalities.
- High arches and hammer-toes.
- Balance problems.
- Problems with hand function.
- Occasional lower leg and forearm muscle cramping.
- Loss of some normal reflexes.
- Scoliosis (curvature of the spine)
- And sometimes even breathing difficulties.
- Does not affect life expectancy, but can, in rare instances, cause severe disability.

As yet there is no cure for CMT. Physical therapy, occupational therapy and moderate physical activity are beneficial. Keep in mind that muscles weakened as result of CMT can never regain strength; over-exercising can cause more damage as the patient may lose still functioning muscle strength for good.

Foot-, hand-, back- and neck surgery may sometimes be necessary.

Ongoing research is done at several universities through out the world. The aim is to find a cure for HMSN. As said above, at present support is given through physiotherapy, occupational therapy, wearing of leg braces to straighten the feet and improve walking.

There are different types of CMT, a topic for future discussions.

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Content copyright © 2008 by Wollie Woehler. All rights reserved.
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