Charcot-Marie-Tooth disease (hereditary)

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Central nervous system

Progressive neuropathic (peroneal) muscular atrophy; Hereditary peroneal nerve dysfunction; Neuropathy - peroneal (hereditary); Hereditary motor and sensory neuropathy

• Weakness (decreased muscle strength) of the hips, legs, or feet
• "Slapping" gait (the feet hit the floor hard when walking)
• Foot drop (inability to hold foot horizontal)
• Foot deformity (very high arch to feet)
• Progressive leg deformity
• "Stork leg" appearance (loss of lower leg muscle mass leading to skinny calves)
• Numbness in the foot or leg

An examination by touch may reveal thickened nerve bundles under the skin of the legs in the demyelinating form of Charcot-Marie-Tooth disease. The stretch reflexes in the legs are absent. There is loss of muscle control and atrophy in the foot or leg. There is difficulty with lifting up the foot (dorsiflexion) and with toe-out movements (eversion).

• A muscle biopsy or nerve biopsy may confirm the diagnosis.
• Nerve conduction tests are often performed to distinguish axonal from demyelinating forms of the disorder.
• Genetic testing is available for most forms of the disease.

Review Date: 04/20/2005
Reviewed By: Neal Sondheimer, M.D., PhD., Division of Genetics and Metabolism, Children's Hospital of Philadelphia, Philadelphia, PA. Review provided by VeriMed Healthcare Network.