Charcot-Marie-Tooth disease

Charcot-Marie-Tooth disease

overview

Charcot (Shahr-KOH)-Marie-Tooth disease is a group of inherited diseases that cause nerve damage. This damage occurs primarily in the arms and legs (peripheral nerves). Charcot-Marie-Tooth disease is also known as hereditary motor and sensory neuropathy.

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

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

Symptoms

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

• Schwäche in Beinen, Knöcheln und Füßen
• Verlust der Muskelmasse in Ihren Beinen und Füßen
• Hohes Fußgewölbe
• Eingerollte Zehen (Hammerzehen)
• Verringerte Lauffähigkeit
• Schwierigkeiten beim Anheben des Fußes am Knöchel (Fußheber)
• Unbeholfener oder höher als normaler Schritt (Gang)
• Häufiges Stolpern oder Stürzen
• Vermindertes Gefühl oder Gefühlsverlust in Ihren Beinen und Füßen

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 disorder. It occurs when there are mutations in the genes that affect the nerves in your feet, legs, hands, and arms.

Sometimes these mutations damage nerves. Other mutations damage the protective sheath that surrounds the nerve (myelin sheath). Both cause weaker messages to be transmitted between your limbs and your brain.

Risk factors

Charcot-Marie-Tooth disease is hereditary, so if someone in your immediate family has the disease, you have a higher risk of developing the disease.

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

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 become weaker and you may injure areas of the body that experience reduced sensation.

Sometimes the muscles in your feet may not receive the signal from your brain to contract, making you more likely to trip and fall. And your brain may not be receiving pain messages from your feet. So, for example, if you rubbed a blister on your toe, it can become infected without you even realizing it.

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

Sources:

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