What is Charcot-Marie-Tooth ?
Charcot-Marie-Tooth Disease refers to a hereditary neurological disorder affecting primarily the legs, feet and hands. It is also known as Hereditary Motor-Sensory Neuropathy (HMSN) and Peroneal Muscle Atrophy. Charcot-Marie-Tooth (CMT) Disease is one of the more common hereditary diseases. One in 2,500 people is afflicted with some form of CMT.

CMT is a neurological disorder because it affects the peripheral nerves that supply the lower body. CMT is divided into two general types, Type I and Type II. Different forms of CMT fall under these two types. Type I affects the myelin sheath that surrounds the nerve fiber. Degeneration of the myelin sheath results in slowed conduction of the nerve signals to the muscles. Type II affects the nerve fibers itself. Conduction is generally normal, but abnormalities are evident in the nerve signals. Because of poor innervation, the muscles of the lower limbs start to weaken and waste away and atrophy. Early symptoms of CMT include high arch of the feet and flexed toes. Some varieties of CMT are associated with other disorders. These include CMT with Freidrich Ataxia, with Ptosis, and with Parkinsonism. Onset generally occurs either in childhood or adolescence. Symptoms vary in severity and progressively worsen. There is no cure for CMT, however, various treatments are widely available. They range from physical therapy, leg braces, shoe inserts and surgery to correct any severe abnormalities. Affected individuals are more vulnerable to injury.

CMT usually isn’t life-threatening and almost never affects brain function. It is not contagious, but it is hereditary and can be passed down from one generation to the next. CMT...

* ...is also known as peroneal muscular atrophy (PMA) and hereditary motor sensory neuropathy (HMSN).
* ...is slowly progressive, causing deterioration of peripheral nerves which control sensory information and muscle function of the foot/lower leg and hand/forearm.
* ...causes degeneration of peroneal muscles (located on the front of the leg below the knees).
* ...causes foot-drop walking gait, foot bone abnormalities, high arches and hammertoes, 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.
* ...does not affect life expectancy, but can, in rare instances, cause severe disability.
* ...has no cure, although physical therapy, occupational therapy and moderate physical activity are beneficial.
* ...is sometimes surgically treated.
* ...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.
* ...may become worse if certain neurotoxic drugs are taken.
* ...can vary greatly in severity, even within the same family.
* ...can now be diagnosed by a blood test (CMT types: 1A, 1B, 1C, 1D, 1E, 1F, 1X, 2A, 2B, 2E, 2F, 2I, 2J, 2K, 4A, 4C, 4E, 4F, 4J, HNPP, CHN, and DSN).


 

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