Charcot-Marie-Tooth Disease

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Signs and Symptoms

Symptoms vary from mild to severe, from patient to patient, and even among family members with the disease. Symptoms are more severe in cases of early age of onset.

The first indications of CMT are mild, usually foot and ankle weakness, and fatigue. If the toes have started to curl into "claw toes," wearing shoes may become painful. Weakness in the hands also may be present.

Another sign of CMT is a highly arched foot (cavus arch). When the muscles of the foot weaken, an imbalance develops that typically raises the arch of the foot. This increases tension in the muscles on the bottom of the foot and worsens the curling of the toes.

A change in gait is another common sign. When atrophy progresses, the muscle in the front of the leg usually is the first affected. This produces two distinct characteristics in gait:

1. Swaying from side to side
   
2. Foot slapping the ground
   

Because the muscle in the front of the leg is deteriorating, it lacks the strength to pull the foot forward for the next step and the foot drags across the ground. People with CMT sway as they walk so the trailing foot can clear the ground.

The same muscle helps slowly lower the forefoot once the heel touches the ground. Because the muscle is weakened, the forefoot drops and slaps against the ground as soon as the heel touches down.

In later stages of the disease, most of the muscles below the knee have atrophied, producing thin, spindly calves and lower legs. Fractures and sprains of the ankle and lower leg are common. In rare severe cases, crutches or a wheelchair may be needed. Muscles above the knee usually are not affected.

An affected hand may turn in on itself, making ordinary activities like writing, fastening buttons, and opening doors and jars very difficult.

CMT disease also may produce these symptoms:

• Burning, tingling, numbness in hands and feet
  
• Chronic weakness and fatigue
  
• Difficulty with balance
  
• Difficulty with motor coordination (e.g., writing)
  
• Loss of sensation in hands and feet
  
• Lower leg and forearm muscle cramping
  
• Partial sight or hearing loss (rare)
  
• Scoliosis (rare)
  
• Weakened reflexes
  

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