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Rigid Deformity in Adult Charcot-Marie-Tooth Disease
Charcot-Marie-Tooth (CMT) disease is one of the most common hereditary motor and sensory neuropathies, affecting approximately 1 in 2,500 people. Although it is most often inherited in an autosomal dominant form, both autosomal recessive and X-linked subtypes exist. It is most commonly a demyelinating neuropathy resulting from a duplication of a segment of chromosome 17p11.2 that encodes peripheral myelin protein 22kD. Clinically, the patient has sensory deficits and weakness in the intrinsic musculature of the hands and feet. Early in the disease process, the resultant deformities from muscle imbalances in the foot and the ankle are flexible; however, over time, these deformities may become rigid.