Charcot-marie-tooth disease (treatment/therapies)

[Guest guest]

Curr Treat Options Neurol. 2008 Mar;10(2):94-102.

Charcot-marie-tooth disease.

GT, Weiss MD, Han JJ, Chance PF, England JD.

T. , MD Department of Rehabilitation Medicine, Box

356490, University of Washington, 1959 N.E. Pacific Avenue, Seattle,

WA 98195, USA.

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.