Charcot-Marie-Tooth disease (CMT) is one of the most common inherited neurological diseases, affecting about 1 in 2,500 people in the U.S.
CMT weakens motor and sensory nerves. Motor neurons control muscle contraction and voluntary muscle activities such as speaking, walking, breathing, and swallowing. The onset of the symptoms in CMT happens more frequently in adolescence or early adulthood and may differ between patients, even among relatives with the condition.
Early symptoms of CMT
CMT is a progressive condition, which means symptoms worsen with time. The first signs of the disease in young children include:
- Walking difficulties, where children have problems lifting their feet off the ground;
- Being accident-prone for their age;
- Toes dropping forward when they lift their feet, also known as foot drop.
Main symptoms of CMT
The main symptoms of CMT include:
- Lower limb weakness due to progressive muscle weakness and wasting of the distal muscles (the muscles farthest from the center of the body).
- High foot arches and curled toes, which are a result of the loss of muscle bulk around the joints in the legs and feet, causing contractures. Contractures or stiffened joints tend to worsen over time, making it more difficult to walk. As the disease progresses, contractures may lock the fingers in a flexed position, and in more severe cases spine curvature (scoliosis) may develop.
- Walking and running difficulties as a result of increasing muscle weakness and attempts at compensation, which may result in frequent falls.
- Decreased sensation in the legs and feet due to damaged sensory nerve fibers. People with CMT may experience tingling and burning sensations in their hands and feet, causing discomfort and sometimes pain. Their sense of touch and the ability to sense temperature changes are diminished. Some people with sensory loss have dry skin and hair loss in the affected area. In rare cases, patients may also develop tremor (uncontrollable shaking).
Main symptoms may appear between ages 5 to 15, and may spread from the legs to the arms.
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