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Charcot -Marie-Tooth disease is a group of inherited disorders that cause nerve damage. This damage is mostly in your arms and legs. Charcot-Marie-Tooth is also called hereditary motor and sensory neuropathy. Charcot-Marie-Tooth disease results in smaller, weaker muscles.

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Complications of Charcot-Marie-Tooth disease vary in severity from person to person. Foot abnormalities and difficulty walking are usually the most serious problems. Muscles may get weaker, and you may injure areas of the body that experience decreased sensation.

Sometimes the muscles in your feet may not receive your brain's signal to contract, so you're more likely to trip and fall. And your brain may not receive pain messages from your feet, so if you've rubbed a blister on your toe, for example, it may get infected without your realizing it.

You may also experience difficulty breathing, swallowing or speaking if the muscles that control these functions are affected by Charcot-Marie-Tooth disease.

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This inherited disease weakens muscles and affects quality of life but doesn't affect life span.-Charcot-Marie-Tooth disease - Symptoms & causes - Mayo Clinic

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Learn how to spot the symptoms and how doctors treat this group of peripheral nerve disorders.

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Weakness in your legs, ankles and feet

Loss of muscle bulk in legs and feet

High foot arches

Curled toes (hammertoes)

Decreased ability to run

Difficulty lifting your foot at the ankle (footdrop)

Awkward or higher than normal step (gait)

Frequent tripping or falling

Decreased sensation or a loss of feeling in your legs and feet

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Complications of Charcot-Marie-Tooth disease vary in severity from person to person. Foot abnormalities and difficulty walking are usually the most serious problems. Muscles may get weaker, and you may injure areas of the body that experience decreased sensation.

Sometimes the muscles in your feet may not receive your brain's signal to contract, so you're more likely to trip and fall. And your brain may not receive pain messages from your feet, so if you've rubbed a blister on your toe, for example, it may get infected without your realizing it.

You may also experience difficulty breathing, swallowing or speaking if the muscles that control these functions are affected by Charcot-Marie-Tooth disease.

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This inherited disease weakens muscles and affects quality of life but doesn't affect life span.-Charcot-Marie-Tooth disease - Symptoms & causes - Mayo Clinic

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Learn how to spot the symptoms and how doctors treat this group of peripheral nerve disorders.

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There's no cure for Charcot-Marie-Tooth disease. But the disease generally progresses slowly, and it doesn't affect life span.

There are some treatments to help manage Charcot-Marie-Tooth disease

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Charcot-Marie-Tooth disease - Diagnosis and treatment - Mayo Clinic

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Charcot-Marie-Tooth disease - Comprehensive overview covers symptoms, treatment of this group of peripheral nerve disorders.

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hammer toe

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CMT can be inherited in three different ways that aren’t always easy to trace through a family tree. It will effect the male more then the female and is mostly the X-Chromosomes.

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As the disease progresses, muscles in the lower legs usually weaken, but leg and foot problems rarely require the use of a wheelchair. Affected individuals may also develop weakness in the hands, causing difficulty with daily activities such as writing, fastening buttons, and turning doorknobs.

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Charcot-Marie-Tooth disease is an inherited neurological disease characterized by a slowly progressive degeneration of the muscles in the foot, lower leg, hand, and forearm, and a mild loss of sensation in the limbs, fingers, and toes. The first sign of

Charcot Marie tooth disease

is generally a high arched foot or gait disturbances.

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National Human Genome Research Institute (NHGRI)

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Learning About Charcot-Marie-Tooth Disease

What do we know about Charcot-Marie-Tooth disease?

Charcot-Marie-Tooth disease (CMT) is an inherited neurological disease characterized by a slowly progressive degeneration of the muscles in the foot, lower leg, hand, and forearm, and a mild loss of sensation in the limbs, fingers, and toes. The first sign of CMT is generally a high arched foot or gait disturbances.

Other symptoms of the disorder may include foot-bone abnormalities such as high arches and hammer toes, problems with hand function and balance, occasional lower leg and forearm muscle cramping, loss of some normal reflexes, occasional partial sight and/or hearing loss, and, in some individuals, scoliosis (curvature of the spine).

People with CMT disease usually begin to experience symptoms in adolescence or early adulthood. There is no cure for the disease, but there are treatment options, including physical therapy and bracing. Life expectancy is usually normal.

CMT disease can be divided into two classes, depending on where the dysfunction occurs in the peripheral nerves:

In CMT type 1, the peripheral nerves' axons - the part of the nerve cell that transmits electrical signals to the muscles - lose their protective outer coverings, their myelin sheaths. This disrupts the axons' function.

In CMT type 2, the axons' responses are diminished due to a defect within the axons themselves. CMT type 2, the less common of the two classes, can be further separated into at least six subtypes, caused by defects in different genes.

Is there a gene implicated in Charcot-Marie-Tooth?

The newly discovered GARS gene (see Gene Discovery Opens Door to Further Research In Inherited Neurological Disorders [News Release]) is implicated in CMT type 2D, a form of CMT that primarily affects the hands and the forearms. CMT type 2D is inherited in an autosomal dominant fashion.

Even though the GARS gene is implicated in only two specific types of CMT, this discovery will guide researchers in studying other forms of these diseases, as well as other neurological disorders.

Because carpal tunnel syndrome affects the hands and the forearms, scientists may now investigate whether the GARS gene plays some role in this disorder. And two defective forms of the gene implicated in Lou Gehrig's disease are known to interact with a GARS family member.

Ultimately, the GARS gene and its family may provide a rich new resource for scientists investigating inherited and non-inherited neurological diseases.

NHGRI Clinical Research on Charcot-Marie-Tooth Disease

Currently, NHGRI is not conducting studies on Charcot-Marie-Tooth Disease

Additional Resources for Charcot-Marie-Tooth Disease
Last Updated: December 27, 2013

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national organization for rare disorders

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What do we know about Charcot-Marie-Tooth disease? Charcot-Marie-Tooth disease (CMT) is an inherited neurological disease characterized by a slowly progressive degeneration of the muscles in the foot, lower leg, hand, and forearm, and a mild loss of sensation in the limbs, fingers, and toes.

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Population with Charcot Marie tooth disease

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Population with Charcot Marie tooth disease

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There are about 200,000 cases per year in the United States of America of people being diagnosed with Charcot Marie tooth disease

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Overview

Charcot (shahr-KOH)-Marie-Tooth disease is a group of inherited disorders that cause nerve damage. This damage is mostly in your arms and legs (peripheral nerves). Charcot-Marie-Tooth is also called hereditary motor and sensory neuropathy.

Charcot-Marie-Tooth disease results in smaller, weaker muscles. You may also experience loss of sensation and muscle contractions, and difficulty walking. Foot deformities such as hammertoes and high arches are also common. Symptoms usually begin in your feet and legs, but they may eventually affect your hands and arms.

Symptoms of Charcot-Marie-Tooth disease typically appear in adolescence or early adulthood, but may also develop in midlife.

Symptoms

Signs and symptoms of Charcot-Marie-Tooth disease may include:

Weakness in your legs, ankles and feet

Loss of muscle bulk in legs and feet

High foot arches

Curled toes (hammertoes)

Decreased ability to run

Difficulty lifting your foot at the ankle (footdrop)

Awkward or higher than normal step (gait)

Frequent tripping or falling

Decreased sensation or a loss of feeling in your legs and feet

As Charcot-Marie-Tooth disease progresses, symptoms may spread from the feet and legs to the hands and arms. The severity of symptoms can vary greatly from person to person, even among family members.

Causes

Charcot-Marie-Tooth disease is an inherited, genetic condition. It occurs when there are mutations in the genes that affect the nerves in your feet, legs, hands and arms.

Sometimes, these mutations damage the nerves. Other mutations damage the myelin sheath, the protective coating that surrounds the nerve. Both cause weaker messages traveling between your extremities and brain.

That means some of the muscles in your feet may not receive your brain's signal to contract, so you're more likely to trip and fall. And your brain may not receive pain messages from your feet, so if you've rubbed a blister on your toe, for example, it may get infected without your realizing it.

Risk factors

Charcot-Marie-Tooth disease is hereditary, so you're at higher risk of developing the disorder if anyone in your immediate family has had the disease. Other causes of neuropathies, such as diabetes, may cause symptoms similar to or worsen Charcot-Marie-Tooth disease.

Complications

Complications of Charcot-Marie-Tooth disease vary in severity from person to person. Foot abnormalities and difficulty walking are usually the most serious problems. Muscles may get weaker, and you may injure areas of the body that experience decreased sensation.

You may also experience difficulty breathing, swallowing or speaking if the muscles that control these functions are affected by Charcot-Marie-Tooth disease.

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Charcot-Marie-Tooth disease - Symptoms and causes

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Charcot (shahr-KOH)-Marie-Tooth disease is a group of inherited disorders that cause nerve damage. This damage is mostly in your arms and legs (peripheral nerves). Charcot-Marie-Tooth is also called hereditary motor and sensory neuropathy. Charcot-Marie-Tooth disease results in smaller, weaker muscles. You may also experience loss of sensation and muscle contractions, and difficulty walking.