Charcot-Marie-Tooth disease

Overview

What is Charcot-Marie-Tooth disease?

Charcot-Marie-Tooth disease, also called CMT, is a group of genetic disorders that affect the peripheral nerves. These are the nerves outside of central nervous system (which is the brain and spinal cord). The peripheral nerves carry messages from the brain to muscles and sensory cells throughout the body. CMT affects both motor and sensory nerves. Motor nerves cause muscles to contract and allow people to perform voluntary tasks like walking or talking. Sensory nerves have cells, or receptors, that respond to stimuli and send information to the brain. For example, in the skin they respond to touch, pressure, vibration, temperature, and pain. The most common symptoms of CMT happen because the peripheral nerves don't function properly. These symptoms include slow degeneration of muscles in the feet and legs causing muscle weakness and muscle cramps. There may also be a mild loss of sensation in the feet and legs. The specific symptoms can differ among people with this disorder; this is even true for people in the same family. Some people never even realize they have the disorder, while others may have some moderate disability due to symptoms. There can be very severe symptoms in some people. Most people have some symptoms, but life expectancy is usually not reduced by having CMT. The symptoms will get worse, although usually very slowly. As the disease progresses, people may begin to sprain their ankles a lot, trip and fall a lot, and they may have a high arch to the bottom of their feet, or toes that bend upward at the middle joint (hammertoes). Often, the hands will become involved, leading to muscle weakness in the hands. This can cause problems with daily tasks like turning doorknobs or fastening buttons. Some people experience pain and fatigue as well. Rare forms of CMT may cause more severe symptoms and affect other systems of the body. Symptoms usually begin in the teens or early adulthood, but can also start years later or earlier. There are many different forms of CMT and changes (mutations) in one of many different genes can cause these disorders. There is no cure, but there are a variety of treatments to help manage the symptoms.

Support groups offer in-depth information about CMT. The Charcot-Marie-Tooth Association and the Hereditary Neuropathy Association offer information and support for these disorders.

References
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Are there other names for Charcot-Marie-Tooth disease?

How common is Charcot-Marie-Tooth disease?

Are there other names for Charcot-Marie-Tooth disease?

Most doctors and medical personnel refer to these disorders as Charcot-Marie-Tooth disease. Charcot, Marie and Tooth are the surnames of three of the doctors who first described this disorder in the medical literature. Drs. Jean-Martin Charcot, Pierre Marie, and Howard Henry Tooth first wrote about this disorder in 1886.

Charcot-Marie-Tooth disease is often abbreviated as CMT and is also called Charcot-Marie-Tooth syndrome, hereditary motor and sensory neuropathy or HMSN, Charcot-Marie-Tooth neuropathy, and Charcot-Marie-Tooth hereditary neuropathy.

As doctors learn more about CMT, they have determined that disorders that were once thought of as distinct disorders are actually specific forms of CMT. Dejerine-Sottas syndrome and congenital hypomyelinating neuropathy were once considered distinct disorders. Doctors now believe that they are the same disorder and they are now classified as Charcot-Marie-Tooth disease type 3 or CMT3. Roussy-Levy syndrome is now considered a subtype of CMT type 1. Peroneal muscular atrophy is now classified as CMT1B.

References
How common is Charcot-Marie-Tooth disease?

Charcot-Marie-Tooth disease is one of the most common genetic cause of nerve disease (neuropathy) in the world. The prevalence is estimated to be about 1 in 2,500-3,300 people in the general population of Western countries. However, specific geographic populations have different prevalence rates ranging from 1 in 1,200 to 1 in 9,200. Prevalence is the total number of people with a disorder in a specific population at a given time. Collectively, these disorders affect more than 250,00 people in the United States, and may affect as many as 2.8 million people worldwide. Most people in Western countries have CMT1, which makes up about 80% of people with these disorders. The main subdivision, CMT1A makes up about 70%-80% of people with CMT1.

References

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