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Conditions

Charcot Marie Tooth Disease

Overview

Despite the name, Charcot-Marie-Tooth disease affects the motor and sensory nerves throughout the legs and arms. The name of the condition is derived from the last names of the three doctors who discovered the hereditary disease, which can also be referred to as hereditary motor and sensory neuropathy, or HMSN. Charcot-Marie-Tooth disease affects the motor nerves, which are responsible for muscle movement and contractions, while sensory nerves enable an individual to determine how something feels when it is touched.

Causes

Charcot-Marie-Tooth disease is hereditary, which means it is passed through the genes within a family. The mutated gene affects how the nerves within the legs and arms are structured and developed, and in severe cases, there is a disconnect between the brain signal and nerve endings, which can cause difficulty in movement or an inability for the brain to process sensations in the arms, hands, feet or legs.

Symptoms

Depending on the gene mutation, the severity of symptoms can vary. Symptoms may occur in adolescence, while some individuals will begin to experience symptoms later into adulthood. Signs of Charcot-Marie-Tooth disease include:

  • Frequently tripping or falling down
  • Weakness or decreased feeling in the legs, feet and ankles
  • Numbness in the feet and legs
  • Curled toes
  • High arches of the foot

With time, the disease can cause a weakness or decreased sensation in other parts of the body, such as the upper extremities and upper portions of the leg.

Diagnosis

If you are unsure if you carry the mutated gene and are experiencing symptoms associated with Charcot-Marie-Tooth disease, your doctor can do a variety of tests to establish a diagnosis. Tests, which can determine the level of nerve damage, include:

  • Genetic testing, commonly done through a blood sample
  • Biopsy of a nerve, found within the calf
  • Electromyography (EMG)
  • Study of the nerve condition through electrodes

Treatment

While there are no treatments for the disease, some solutions may help to manage symptoms. Such treatments include:

  • Occupational therapy to help with daily activities
  • Physical therapy to stretch the muscles to prevent mass loss or stiffness
  • Orthopedics to maintain balance and stability as you walk, as well as ankle support

Surgery

If the disease causes foot deformity, such as curled toes, corrective surgery may be suggested to improve walking or reduce pain. In cases of muscle weakness or decreased sensation, surgery is not able to treat those symptoms.