Medical Mystery answered - Loss of sensation and crazy skin
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Dr. Milap Patel
Medical Mystery answered - Loss of sensation and crazy skinny legs
The cause was Charlot-Marie-Tooth (CMT) — a constellation of neurological disorders that affect the peripheral nerves. Semmes had CMT Type 1b. All forms of the disease — there are 70 — result in muscle atrophy and lead to weakness and a progressive loss of sensation in the arms, legs, hands and feet, usually during adolescence or early adulthood. The disease occurs when a person inherits at least one defective gene from a parent; the errant gene causes the nerves to slowly degenerate, resulting in a loss of sensation. The severity of CMT, for which there is no cure and no effective drug treatment, varies considerably, even among affected members of the same family. Pain ranges from mild to severe and some people maintain mobility through the use of leg braces or other orthopedic devices. Physical therapy and exercise can be helpful in maintaining mobility longer, particularly when the disease is diagnosed early. Semmes said he is aware the disease is progressing. Numbness is moving up his legs and he is struck by the thinning of his wrists and ankles. Since his diagnosis, he has succeeded in losing 25 pounds, which can help retain mobility by decreasing the amount of weight his legs must support.

Case Facts
Every year, since he turned 45, Thomas Clark Semmes, visited his physician for a checkup. The physician would prick the soles of Semmes’s feet with a pin but Semmes, now 56, never felt anything. In the last year of his life, his son noticed his “crazy skinny” legs and by how much his father’s hands shook. Semmes had begun to notice that his own feet were increasingly tingly or numb. In August 2013 while doing yoga, felt something in his knee pop. A day later he could barely walk.
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