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Charcot Marie Tooth Disease


Overview :

CMT is named for the three neurologists who first described the condition in the late 1800s. It is also known as hereditary motor and sensory neuropathy, and is sometimes called peroneal muscular atrophy, referring to the muscles in the leg that are often affected. The age of onset of CMT can vary anywhere from young childhood to the 50s or 60s. Symptoms typically begin by the age of 20. For reasons yet unknown, the severity in symptoms can also vary greatly, even among members of the same family.

Although CMT has been described for many years, it is only since the early 1990s that the genetic cause of many of the types of CMT have become known. Therefore, knowledge about CMT has increased dramatically within a short time.

The peripheral nerves

CMT affects the peripheral nerves, those groups of nerve cells carrying information to and from the spinal cord. CMT decreases the ability of these nerves to carry motor commands to muscles, especially those furthest from the spinal cord located in the feet and hands. As a result, the muscles connected to these nerves eventually weaken. CMT also affects the sensory nerves that carry information from the limbs to the brain. Therefore people with CMT also have sensory loss. This causes symptoms such as not being able to tell if something is hot or cold or difficulties with balance.

There are two parts of the nerve that can be affected in CMT. A nerve can be likened to an electrical wire, in which the wire part is the axon of the nerve and the insulation surrounding it is the myelin sheath. The job of the myelin is to help messages travel very fast through the nerves. CMT is usually classified depending on which part of the nerve is affected. People who have problems with the myelin have CMT type 1 and people who have abnormalities of the axon have CMT type 2.

Specialized testing of the nerves, called nerve conduction testing (NCV), can be performed to determine if a person has CMT1 or CMT2. These tests measure the speed at which messages travel through the nerves. In CMT1, the messages move too slowly, but in CMT2 the messages travel at the normal speed. CMT has been diagnosed in people from all over the world. It occurs in approximately one in 2,500 people, which is about the same incidence as multiple sclerosis. It is the most common type of inherited neurologic condition.




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