Charcot-Marie-Tooth disease

Charcot (shahr-KOH)-Marie-Tooth disease is a group of inherited disorders that cause nerve damage. This damage is mostly in the arms and legs (peripheral nerves). Charcot-Marie-Tooth disease 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 also are common. Symptoms usually begin in the 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.

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

• Weakness in your legs, ankles and feet
• Loss of muscle bulk in your 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.

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 protective coating that surrounds the nerve (myelin sheath). Both cause weaker messages to travel between your limbs and brain.

Charcot-Marie-Tooth disease is hereditary, so you're at higher risk of developing the disorder if anyone in your immediate family has the disease.

Other causes of neuropathies, such as diabetes, may cause symptoms similar to Charcot-Marie-Tooth disease. These other conditions can also cause the symptoms of Charcot-Marie-Tooth disease to become worse. Medications such as the chemotherapy drugs vincristine (Marqibo), paclitaxel (Abraxane) and others can make symptoms worse. Be sure to let your doctor know about all of the medications you're taking.

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.