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What is Charcot-Marie-Tooth Syndrome?

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  • Written By: Garry Crystal
  • Edited By: Niki Foster
  • Last Modified Date: 11 September 2016
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Charcot-Marie-Tooth syndrome is a neurological disease that progresses from the nervous system to the body’s muscles. Sufferers of this syndrome will gradually, over a period of time, lose the use of their limbs. The arms, hands, legs and feet will no longer be able to function normally. The nerves in their limbs begin to deteriorate and muscles stop functioning due to a lack of stimulus from the nerves.

Charcot-Marie-Tooth syndrome is an inherited disease that can be passed from generation to generation. In America, it affects around 150,000 people. It is a worldwide disorder that can affect anyone. The disorder was discovered in 1886 by three doctors, Jean-Martin Charcot, Pierre Marie, and Howard Henry Tooth.

Although in some cases, Charcot-Marie-Tooth syndrome can cause extreme disability, it is not a life-threatening disorder. It does not affect normal brain functions. Although the severity of the symptoms of this condition vary, the nature of the symptoms is very similar in most cases.

The first symptoms of Charcot-Marie-Tooth are usually seen in the feet. Sufferers usually experience a high arching of the foot. In some cases, very flat feet may also be a symptom of the disorder. Hammer toes and abnormalities of the feet may be seen as the disease progresses.

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As Charcot-Marie-Tooth syndrome is a degenerative disease, muscles in the limbs gradually become weaker. The sufferer will begin to experience difficulties in walking and general movement. His or her balance will become disorientated and he or she will experience difficulty when running. Muscles in the hands will begin to weaken, and simple tasks such as opening a door will become difficult.

As nerve function is lost in the extremities of the limbs, sufferers may also find they lose sensory nerve perception. Because of this, burning or scalding could occur to the hands or feet without the sufferer being aware of it. Sufferers may also begin to develop blisters, ulcers and swellings on the hands and feet.

If symptoms of Charcot-Marie-Tooth are present, tests will be conducted by a neurologist. A physical exam and tests to confirm the disease will take place. These may include electrodiagnostic testing that should diagnose the condition. Testing may also be performed in order to diagnose genetic causes.

The treatment for Charcot-Marie-Tooth syndrome is carried out by a variety of medical specialists. A podiatrist will treat the foot problems. An orthopedist will be necessary if there are braces needed for the legs. Physical therapy may also be necessary to care for the leg muscles and help strengthen them.

Surgical treatment is also an option and may include pinning toes, lowering the arches of the feet and bonding ankle joints for greater strength. The benefits of surgery must be weighed against the risks and discomfort involved in order to determine whether it is necessary. Friends and family are the greatest support that a sufferer of Charcot-Marie-Tooth syndrome can have.

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anon185451
Post 3

My ex/ husband has this syndrome. My question is if a person with this syndrome also has uncontrolled attacks of anger and violence?

anon70930
Post 2

I have been dealing with CMT since childhood and now it is causing more problems, not only with my legs but the use of my hands, every thing has gotten weaker. I am even on medication, and have had shots in my neck and back to help relieve the pain.

luna49
Post 1

I was diagnosed with a demylenating polyneuropathy, probably CMT, although I've never done a DNA test to confirm. We think both my father and his father had the same condition, however, so it seems very likely.

One symptom that you didn't specifically mention that I've suffered with all my life is drop foot. I continuously trip over my feet when I'm tired or just not paying attention. When I was younger, I tended to stare at my feet when I walked, which was a hard habit to break.

The electrodiagnostic testing the doctor did on my legs was amazingly painful - until they got to my ankles, when I could barely feel it. Fortunately, I seem to have a relatively mild version, and hope it won't be too disabling as I age.

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