Charcot-Marie-Tooth Disease: An Inherited Neurological Disease, Not a Dental Problem

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  • Topic: Muscle, Myelin, Charcot-Marie-Tooth disease
  • Pages : 23 (4155 words )
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  • Published : September 27, 2011
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Charcot-Marie-Tooth is not a dental problem. The name may sound funny, yet the disease is anything

but. Although very few people have heard of it It's the No. 1 inherited neuromuscular disease in

America. Charcot-Marie-Tooth disease (CMT) is an inherited neurological disease characterized

by gradual degeneration of nerves, which starts in the hands and feet and results in numbness,

muscle weakness and loss of function.

Charcot-Marie-Tooth (CMT) disease typically occurs in 1 person per 2,500. The disease is not

fatal , however , the effects that it causes on the body is very detrimental , especially to the

individual 's self-confidence. The disease involves damage to the covering myelin sheath around

nerve fibers. In some, the disease causes destruction of the myelin sheath. In others, the central

(axon) portion of the nerve cell wears away (Charcot, 1992).
CMT is one of 40 diseases covered by the Muscular Dystrophy Association (MDA) but unlike

muscular dystrophy, in which the defect is in the muscles, CMT is a disorder in which the defect

is in the nerves that control the muscles. CMT disease is a form of mutation of the genetic

makeup of the individual . It particularly affects the genes which are responsible for the

production of genes and which are involved in the proper functioning of the peripheral nerve

axon. Peripheral nerves carry movement and sensation signals between brain and spinal cord

and the rest of the body (Kronig, 1984).

Symptoms usually start around the teen years. For reasons unknown, the severity in

symptoms can also vary greatly, even among members of the same family. Generally, CMT is

not a totally debilitating condition but it can make life exhausting and more challenging. The

symptoms of CMT are progressive. The first sign of CMT is generally a high arched foot or

problems with walking. Other symptoms of the disorder may include foot bone abnormalities

such as high arches and hammer toes, with hand function and balance, occasional lower leg and

forearm muscle cramping, loss of some normal reflexes, occasional partial sight and/or hearing

loss and, in some patients, scoliosis (curvature of the spine). Affected individuals may also

develop muscle weakness in the hands, causing difficulty with daily activities such as writing,

fastening buttons, and turning doorknobs. Because signals to sensory cells can be disrupted in

Charcot-Marie-Tooth disease, people with this disorder may feel aching or burning sensations in

the feet and lower legs, or they may experience a decreased sensitivity to touch, heat, and cold.

In rare cases, sensory loss can include gradual hearing loss, deafness, or loss of vision (Dyck,


Charcot-Marie-Tooth disease slowly gets worse. Some parts of the body may become numb.

Although foot and hand deformity and walking problems are lifelong disabilities, mental

function and longevity usually are not affected.

Doctors may recommend the following tests, which can help provide information about the

extent of nerve damage and what may be causing it. One test used is the Nerve conduction

studies. These tests measure the strength and speed of electrical signals transmitted through your

nerves. Electrodes are placed on your skin and deliver small electric shocks that stimulate the

nerve. Delayed or weak responses may indicate a nerve disorder such as Charcot-Marie-Tooth

disease (Culling, 1974).

Electromyography (EMG) is also an option. This test is performed by inserting a thin

needle electrode through the skin into the muscle to be tested. Electrical activity is measured as

you relax and as you gently tighten the muscle. The doctor may be able to determine the

distribution of the disease by testing different muscles (Culling, 1974).

Nerve biopsy is performed when a...
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