CMT is also known as peroneal muscular atrophy (PMA), or hereditary motor sensory neuropathy (HMSN). It is one of the most commonly inherited neurological disorders.
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. However, some forms of CMT may also be inherited in an X-linked or autosomal recessive pattern. CMT may also occur for the first time as the result of a spontaneous or de novo mutation.
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.
Two of the most common symptoms are pain and fatigue. The most common causeof pain is “referred” pain, caused by wear and tear on the body from walking awkwardly, but more rarely the damaged sensory nerves cause pain without external stimuli – known as neuropathic pain. Chronic fatigue is common to absolutely everyone and is caused by the sheer physical effort of life with muscles that are not functioning efficiently.
People may lose feeling in their hands and feet putting them at risk for blisters, burns, and sores.
CMT has no known cure, although physiotherapy, occupational therapy, podiatry and moderate physical activity are beneficial. Orthotic devices or braces can be helpful in maintaining mobility and stability, as can orthopaedic surgery.
It usually 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.
CMT is NOT a type of Muscular Dystrophy, or “like” Multiple Sclerosis – it’s a peripheral nerve disease, not a disease of the muscles or of the central nervous system.
Charcot-Marie-Tooth UK was founded in 1986. Its mission is to generate the resources to find a cure, to create awareness, and to provide personal support and advice for those affected by Charcot-Marie-Tooth.