ASPIRE Educational Series: Charcot-Marie-Tooth Disease (CMT)- Part 9

Charcot-Marie-Tooth (CMT) disease is one of the most common inherited neuromuscular disorders that affect the peripheral nerves. The disease is named for the three physicians who first identified it in 1886 – Jean-Martin Charcot and Pierre Marie in Paris, France, and Howard Henry Tooth in Cambridge, England. It’s also known as hereditary motor and sensory neuropathy (HMSN) or peroneal muscular atrophy.

Nerve tissue outside the brain and spinal cord are known as the peripheral nervous system. This system causes body movements by contracting and relaxing the muscles under instruction from the brain. The peripheral nervous system also relays sensory information from the sense organs of the skin, tendons, and muscles back to the spinal cord. CMT either interferes with the production of proteins that make up the myelin sheath (insulating material protecting axons) or else affects the structure or function of the axon. Neuropathies that affect myelin are known as ‘demyelinating’ neuropathies. Those that affect primarily the nerve fibers are called ‘axonal’ neuropathies. The result of both is that affected nerves cannot work properly to control movement or sensation. Specific gene mutations are responsible for the abnormal function of the peripheral nerves.

The symptoms of CMT usually start to appear between the ages of five and 15, although they sometimes don’t develop until well into middle age or later. CMT is a progressive condition. This means the symptoms slowly get worse, making everyday tasks increasingly difficult. Signs and symptoms of the Charcot-Marie-Tooth disease may include:

As Charcot-Marie-Tooth disease progresses, symptoms may spread from the feet and legs to the hands and arms. The disease is slowly progressive and variable and those affected may remain active for years and live a normal life span. In the most severe cases, breathing difficulties can hasten death. The severity of symptoms can vary greatly from person to person, even among family members.

Most inherited disorders can only be passed on by one or two patterns of inheritance. However, CMT can be inherited via most known patterns of inheritance and is the most common inherited disorder of the peripheral nervous system. Patterns of inheritance for CMT include:

CMT disease is divided into several types, as follows:


A diagnosis of CMT is established through a thorough neurological evaluation by an expert in neuropathy, including a complete family history, physical exam, and nerve conduction tests, and appropriate genetic testing. Clinical tests include nerve conduction velocity (NCV) which measures the speed at which impulses travel along the nerves and electromyogram (EMG) which records the electrical activity of muscle cell. Molecular genetic testing is currently available for CMT1A, CMT1B, CMT1D, CMT2E, CMT4A, CMT4E, CMT4F, and CMTX.


Treatment of CMT is supportive. Ambulation aids, such as foot orthotics and braces (ankle-foot-orthotics, AFOs) are commonly needed to help with the 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 long lasting quality of life. There is no cure for CMT nor any drug or vitamin known at this time to improve CMT symptoms. However, considering the slow progression, a normal life span may be achieved.



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