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Charcot-Marie-Tooth disease

Charcot (shahr-KOH)-Marie-Tooth disease is a group of hereditary disorders that damage the nerves in your arms and legs (peripheral nerves). Charcot-Marie-Tooth is also known as hereditary motor and sensory neuropathy.

The main signs and symptoms of Charcot-Marie-Tooth disease are muscle weakness and decreased muscle size. You may also notice decreased sensation in affected areas. Foot deformities such as hammertoes and high arches are common in Charcot-Marie-Tooth disease. Symptoms usually begin in your feet and legs, but they may eventually affect your hands and arms.

Muscle weakness and loss of balance can make walking difficult. Symptoms of Charcot-Marie-Tooth disease typically appear in adolescence or early adulthood, but this condition can develop in midlife too.

Symptoms Causes Risk factors Complications

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 not be limited to the feet and legs but may also involve the hands and arms. The severity of symptoms can vary greatly from person to person. This is true even among family members.

Charcot-Marie-Tooth disease is a group of related conditions all caused by inherited mutations in genes involved with the structure and function of the nerves that serve your feet, legs, hands and arms.

In some cases, these genetic mutations result in damage to the nerve itself. Other mutations damage the myelin sheath, the protective coating that surrounds the nerve. The end result, however, is the same — weaker messages traveling between your extremities and your 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.

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 of or worsen Charcot-Marie-Tooth disease.

Complications of Charcot-Marie-Tooth disease vary in severity from person to person, with foot abnormalities and difficulty walking generally being the most serious problems. Muscle weakness may also increase, and injury to areas of the body with decreased sensation may occur.

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