Charcot-Marie-Tooth Disease (CMT) Facts:
CMT is also known as Hereditary Motor Sensory Neuropathy (HMSN), and it was once called Peroneal Muscular Atrophy (PMA).
It is the most commonly inherited peripheral neuropathy.
CMT was discovered in 1886 by three physicians for whom it was named; Jean-Martin Charcot, Pierre Marie, and Howard Henry Tooth.
CMT 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.
It is slowly progressive, causing deterioration of peripheral nerves which control sensory information and muscle function of the foot/lower leg and hand/forearm.
Depending upon the severity and type of CMT, it may cause foot-drop walking gait, foot bone abnormalities, high arches and hammer toes, loss of muscle tissue, problems with balance, problems with hand function, occasional lower leg and forearm muscle cramping, loss of some normal reflexes, scoliosis (curvature of the spine) and sometimes, breathing difficulties.
Patients may lose feeling in their hands and feet, putting them at risk for blisters, burns, and sores.
CMT has no known cure, although physical therapy, occupational therapy and moderate physical activity are beneficial.
It does not affect life expectancy, but can, in rare instances, cause severe disability.
CMT can be detected at any age. Typically, the first signs may include leg weakness, frequent tripping and falling.
It can vary greatly in severity, even within the same family.
CMTA: Charcot-Marie-Tooth Association:
The CMTA was formed in 1983. Its mission is to generate the resources to find a cure, to create awareness, and to improve the quality of life for those affected by Charcot-Marie-Tooth.
The CMTA website is www.cmtausa.org.
The CMTA provides patient support, public education, and promotion and funding of research.
A voluntary Board of Directors governs the association. Mr. Patrick A. Livney serves as its Chairman and President.
The CMTA has launched the Strategy to Accelerate Research™ (STAR), an initiative designed to lead to new treatments for CMT within 3-5 years.
STAR researchers are able to replicate the disorder in the laboratory and in doing so, can begin testing new treatments that will ultimately lead to clinical trials in people. In addition, the translational science used in the research could have major implications for the treatment of a host of related genetic disorders, including Multiple Sclerosis, Muscular Dystrophy and ALS (Lou Gehrig's disease).
The Medical Advisory Board of the CMTA consists of over fifty international research and medical professionals.
