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...