Health Break | Published September 19, 2010

CMT Awareness Week Sheds Light On Neuropathy Disorder

Did you know that Charcot-Marie-Tooth disorder is the most commonly inherited peripheral neuropathy (a problem with the nerves that carry information to and from the brain and spinal cord)? Commonly referred to as CMT, this disease is also known as hereditary motor and sensory neuropathy. CMT affects people of all ages, genders, races and ethnicities, yet is often overlooked.

Identified in 1886 by three physicians for whom it was named, CMT is usually inherited in an autosomal dominant pattern. This means that if one parent has CMT, there is a 50/50 chance of each child inheriting the disorder. It can be detected at any age, with the first signs often being leg weakness and/or frequent tripping and falling. The severity of CMT can vary greatly, even within the same family.

September 19-25 is national CMT Awareness Week. This is a week designed to bring awareness and attention to this disease, and also to the tens of thousands of people who provide support and care for the CMT community. This special week is just one of the activities of the Charcot-Marie-Tooth Association (CMTA), a national non-profit organization formed in 1983 to generate resources to find a cure, create awareness and improve the quality of life for those affected by the disease.

An estimated one in every 2,500 people – 2.6 million worldwide – has CMT. It is a progressive disorder that causes the nerve cells leading to the body's extremities to slowly degenerate, resulting in the loss of normal use of the hands/arms and legs/feet. Some patients will lose all feeling in their hands and feet, putting them at risk for blisters, burns and sores. It may also lead to muscle atrophy and sometimes causes deformities.

Although there is no known cure for the disease, physical therapy, occupational therapy and moderate physical activity are beneficial in maintaining overall health and avoiding complications, such as severe disability, sometimes present in rare cases.

Significant scientific and technological advances have encouraged the CMTA to implement the STAR initiative, an important international research collaboration focused on creating new treatments for CMT within three to five years, and optimistically, a cure within ten years.

To date, more than 40 specific genes known to cause the disorder have been identified. The genetic mutations can now be replicated in laboratory models and grown as tissue cultures. There is real reason for hope and optimism for the CMT community.

For more information about CMT or how you can help, visit the CMTA website at www.cmtausa.org.

Dr. Pete Roy, neurology, Centre Medical and Surgical Associates, PC, clinical associate professor, The Pennsylvania State University.

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