Charcot-Marie-Tooth Disease - Symptoms and Signs

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What are the symptoms of Charcot-Marie-Tooth disease?

The neuropathy of CMT 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, CMT is not considered a fatal disease and people with most forms of CMT have a normal life expectancy.

Return to Charcot-Marie-Tooth Disease (CMT)

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Comment from: Damueyell, 35-44 Female (Patient) Published: April 24

I started dislocating my right knee as a child. When I was 14 I went to see an orthopedic surgeon and when he saw my feet and ankles he asked if I had Charcot-Marie-Tooth disease (CMT). That was the first time I had heard about it. I was diagnosed via nerve biopsy, and then again when I was 33 via blood test to determine the type. My mother, my son and I, all have type 1A.

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Comment from: Nana, 13-18 Male (Caregiver) Published: February 09

My grandson was diagnosed with Charcot-Marie-Tooth disease when he was very young and started having surgeries on his feet right away. That child can hardly walk without shoes because of the terrible pain he has experienced all his life. He has had four surgeries on his feet so far. We have moved to West Texas and would really like to find a support group for all of us and we still do not have a good neurologist. The prior ones he has had said that his syndrome is progressing at a high rate every year. We have been there for him, but having some outside support would be such a good thing.

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