Learn More about Charcot Marie Tooth disease (CMT)
What is CMT?
CMT is an inherited peripheral neuropathy. Inherited means that something can be passed on from generation to generation. Neuropathy means that there is a problem with the nerves. Peripheral refers to the peripheral nervous system, which is all of the nerves that branch from the central nervous system (brain and spinal cord) and travel to the feet and hands - the periphery of the body. People with CMT usually have problems with their feet and hands, including feet deformity (high arches and hammertoes), foot drop, abnormal sensations (and loss of fine motor skills. Not everyone with CMT is affected in the same way. Some patients have mild neuropathy, while others may have more severe problems with walking, hands, and/or sensation.
Who gets CMT?
CMT occurs in both men and women and can affect children and adults. There is no known predisposition to having CMT based on race or ethnicity.
What causes CMT?
CMT is a genetic condition. For a person to be affected with CMT, that person must have one (or two, depending on the type of CMT) disease causing mutation in one of the genes that causes CMT. There are at least forty different genes that cause CMT when mutated. A mutation in any one of them can cause the disease.
How is CMT diagnosed?
The diagnosis of CMT is made by combining clinical features with a nerve conduction study, which is a test where an electrical signal is sent down the nerve. CMT is an inherited peripheral neuropathy - a person must have a peripheral neuropathy based on a nerve conduction test in order to be affected with the condition. Genetic testing can also be done in order to identify a specific sub-type of CMT. Once a sub-type is identified in the family, other family members may just need the nerve conduction or the genetic testing in order to determine if that person is also affected.
What is the treatment for CMT?
Treatment of CMT is supportive. Ambulation aids, such as foot orthotics and braces (anke-foot-orthotics, AFOs) are commonly needed to help with foot deformity and foot drop. Surgery to correct foot alignment or to lengthen or transfer tendons is often performed. Physical and occupational therapies are instrumental in providing longlasting quality of life. There is no cure for CMT nor any drug or vitamin known at this time to make CMT better.