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Definition of Charcot-Marie-Tooth disease

Reviewed on 3/29/2021

Charcot-Marie-Tooth disease: A genetic disease of nerves that is characterized by progressively debilitating weakness, particularly of the limbs. The foremost feature is marked wasting of the extremities, particularly in the calves, resulting in 'stork legs.' The disease usually weakens the legs before it weakens the arms. Pes cavus (deformity of the foot) is often the first sign of the disease. The disease is one of the most common genetic diseases, and it is the most common genetic disorder of peripheral nerves. The disease can be inherited as an autosomal dominant trait, an autosomal recessive trait, or an X-linked trait. There are also sporadic cases in which there is no family history due to a new dominant mutation. Abbreviated CMT. Also known as peroneal muscular atrophy and hereditary motor and sensory neuropathy.

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