Charcot-Marie-Tooth disease

The family of hereditary peripheral neuropathies that makes up Charcot-Marie-Tooth disease (CMT) comprises some of the most common neuromuscular disorders. Over the past decade, understanding of the molecular basis of CMT has increased enormously. In addition, the neurophysiologic deficits and clinical problems associated with CMT are more clearly delineated, and the precise genetic cause of many types of CMT has now been determined. Advances in molecular biology and genetic manipulation techniques have allowed the development of animal models of some of these CMT types, allowing more productive scientific exploration of possible treatments. Recent treatment advances that have been effective in animal models include oral supplementation with curcumin and vitamin C (ascorbic acid), and the use of onapristone, a progesterone antagonist. Human trials with vitamin C are currently in progress. While ongoing molecular genetic research continues to identify more of the mutant genes and proteins that cause the various disease subtypes, clinical research should continue to focus on developing pharmaceutical and rehabilitative therapies to ameliorate nerve degeneration and ultimately improve function for patients with CMT. These patients optimally should be managed in a comprehensive, multidisciplinary setting involving neurologists, physiatrists, orthopedic surgeons, physical and occupational therapists, and orthotists. Treatment should be aimed at maximizing independence and quality of life.