Charcot-Marie-Tooth disease

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Charcot-Marie-Tooth disease (CMT) is part of a family of genetically-defined neurologic diseases characterized by progressive distal wasting and loss of reflexes in the muscles of the legs (and occasionally involving the arms). Onset is usually in the second to fourth decade of life.

This condition has been divided into two subtypes, hereditary motor and sensory neuropathy ( HMSN) types I and II. HMSN I is associated with abnormal nerve conduction velocities and nerve hypertrophy, features not seen in HMSN II. [1]

The genetic abnormalities is associated with the coding for peripheral nerve myelin protein 22; additional subtypes have been discovered. It is most an autosomal dominant trait.
  1. Adams et al., Principles of Neurology, 6th ed, p1343