Learn About Charcot-Marie-Tooth Disease

What is the definition of Charcot-Marie-Tooth Disease?

Charcot-Marie-Tooth disease encompasses a group of disorders called hereditary sensory and motor neuropathies that damage the peripheral nerves. Peripheral nerves connect the brain and spinal cord to muscles and to sensory cells that detect sensations such as touch, pain, heat, and sound. Damage to the peripheral nerves that worsens over time can result in alteration or loss of sensation and wasting (atrophy) of muscles in the feet, legs, and hands.

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What are the causes of Charcot-Marie-Tooth Disease?

Charcot-Marie-Tooth disease can be caused by mutations in many different genes. These genes provide instructions for making proteins that are involved in the function of peripheral nerves in the feet, legs, and hands. The gene mutations that cause Charcot-Marie-Tooth disease affect the function of the proteins in ways that are not fully understood; however, they likely impair axons, which transmit nerve impulses, or affect the specialized cells that produce myelin. In most cases, longer nerves that transmit impulses to the appendages of the body are more likely to be affected. As a result, peripheral nerve cells slowly lose the ability to stimulate the muscles in the feet, legs, and eventually the hands, and to transmit sensory signals from these appendages to the brain. Different mutations within a single gene may cause signs and symptoms of differing severities or lead to different types of Charcot-Marie-Tooth disease.

How prevalent is Charcot-Marie-Tooth Disease?

Charcot-Marie-Tooth disease is the most common inherited disorder that involves the peripheral nerves, affecting an estimated 150,000 people in the United States. It occurs in populations worldwide with a prevalence of about 1 in 3,300 individuals.

Is Charcot-Marie-Tooth Disease an inherited disorder?

The pattern of inheritance varies with the type of Charcot-Marie-Tooth disease. CMT1, most cases of CMT2, and most intermediate forms are inherited in an autosomal dominant pattern. This pattern of inheritance means that one copy of the altered gene in each cell is sufficient to cause the disorder. In most cases, an affected person has one affected parent. Each of the children of an affected parent has a 50 percent chance of inheriting the disorder.

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What are the latest Charcot-Marie-Tooth Disease Clinical Trials?
Myoelectric Devices for Restoration of Independent Arm Function in Children and Adults With Neurological Disease and Injury

Summary: The purpose of this study is to investigate if a person with weakness or paralysis in one or both arms, can use the NuroSleeve combined powered arm brace (orthosis) and muscle stimulation system to help restore movement in one arm sufficient to perform daily activities. This study could lead to the development of a product that could allow people with arm weakness or arm paralysis to use the NuroS...

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Effect of Non-thermal Parameters of Ultrasound on Median Motor Nerve Conduction Velocity.

Summary: The current study investigates the effect of different doses of pulses ultrasound therapy on different nerve conduction parameters of the median nerve in healthy volunteering subjects.

Who are the sources who wrote this article ?

Published Date: October 01, 2018Published By: National Institutes of Health

What are the Latest Advances for Charcot-Marie-Tooth Disease?
Clinical case of the cardiovascular system involvement in a patient with Charcot-Marie-Tooth disease.
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A double-blind, placebo-controlled, randomized trial of PXT3003 for the treatment of Charcot-Marie-Tooth type 1A.