General Information About Charcot-Marie-Tooth Disease
Disease Details and Frequently Asked Questions
It is a hereditary neuropathy in which the arms and legs gradually weaken as a result of genetic damage to the peripheral nerves that command movement to the muscles and carry the sense of touch from the muscles to the brain.
It is caused by the inability to produce or the faulty production, due to a genetic mutation, of the proteins that make up the cable (axon) that transmits the electrical current of the nerves or the outer protective sheath (myelin) of this cable.
It usually begins in the feet during adolescence. Wasting of ankle muscles (stork leg appearance), frequent tripping and falling, numbness in the legs, and loss of dexterity in the hands in later years are seen.
Because the nerves cannot send signals, the small muscles in the foot waste away. When the balance of the muscles is disrupted, the foot bones are pulled upwards; creating a very high arch in the sole of the foot (pes cavus) and curling of the toes (hammertoe).
A neurological examination and EMG (Electromyography) determine that the electrical conduction in the nerves has slowed down. A definitive diagnosis is made with a Genetic (DNA) Test that detects the relevant mutation.
There is no definitive cure for the disease that will heal the nerve damage. However, to make daily life easier, devices that prevent foot drop (AFO orthoses), physical therapy, and tendon/bone surgeries for severe deformities are applied.
Our health library contents are prepared for informational purposes only and with scientific data available at the time of recording. For all your questions, concerns, diagnosis, or treatment regarding your health, please consult your doctor or a healthcare institution.
