Charcot-Marie-Tooth Disease - Symptoms and Signs

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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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Comment from: Prdmomof3, 45-54 Female (Patient) Published: April 11

I have had signs and symptoms of Charcot-Marie-Tooth (CMT) disease since I was about 6 years old (I am now 47), but was not officially diagnosed until I was 36. It was when I had been involved in an auto accident and was literally being wheeled into surgery that my orthopedic surgeon knew what I had. While I have seen many doctors I have found my limitations through the years (for the most part); and while my balance is off, I can"t use my hands like most and fall occasionally. Until this past year it"s just always been something that was aggravating but tolerable. I have noticed things are getting worse, but I"m fighting it every day.

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Comment from: MichaelM, 55-64 Male (Patient) Published: May 02

I just turned 60. Recently I've been having trouble with muscle cramps and spasms in the back of my right upper leg. I am also using ankle braces now. I don't know if this is another symptom of Charcot-Marie-Tooth disease to deal with or just a fluke. After so many, what's one more, I suppose. I have stayed as active as possible over the years. I have not been able to hold a job since early 50s. And yes, I do feel like one of the lucky ones!

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