In this Article
- *Charcot-Marie-Tooth disease (CMT) facts
- What is Charcot-Marie-Tooth disease?
- What are the symptoms of Charcot-Marie-Tooth disease?
- What causes Charcot-Marie-Tooth disease?
- What are the types of Charcot-Marie-Tooth disease?
- How is Charcot-Marie-Tooth disease diagnosed?
- How is Charcot-Marie-Tooth disease treated?
- What research is being done?
- Where can I get more information?
What are the symptoms of Charcot-Marie-Tooth disease?
The neuropathy of Charcot-Marie-Tooth disease affects both motor and sensory nerves. (Motor nerves cause muscles to contract and control voluntary muscle activity such as speaking, walking, breathing, and swallowing.) A typical feature includes
- weakness of the foot and lower leg muscles, which may result in foot drop and a high-stepped gait with frequent tripping or falls.
- Foot deformities, such as high arches and hammertoes (a condition in which the middle joint of a toe bends upwards) are also characteristic due to weakness of the small muscles in the feet.
- In addition, the lower legs may take on an "inverted champagne bottle" appearance due to the loss of muscle bulk.
- Later in the disease, weakness and muscle atrophy may occur in the hands, resulting in difficulty with carrying out fine motor skills (the coordination of small movements usually in the fingers, hands, wrists, feet, and tongue).
Onset of symptoms is most often in adolescence or early adulthood, but some individuals develop symptoms in mid-adulthood. The severity of symptoms varies greatly among individuals and even among family members with the disease. Progression of symptoms is gradual. Pain can range from mild to severe, and some people may need to rely on foot or leg braces or other orthopedic devices to maintain mobility. Although in rare cases, individuals may have respiratory muscle weakness, Charcot-Marie-Tooth disease is not considered a fatal disease and people with most forms of Charcot-Marie-Tooth disease have a normal life expectancy.
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