How is Charcot-Marie-Tooth (CMT) disease treated?

Updated: Feb 19, 2019
  • Author: Francisco de Assis Aquino Gondim, MD, MSc, PhD, FAAN; Chief Editor: Nicholas Lorenzo, MD, MHA, CPE  more...
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Answer

Answer

Currently no medical therapy is capable of preventing the progression of CMT. Therefore, therapy should be focused on the management and prevention of the development of the physical disability related to CMT.

Experimental approaches that may benefit humans in the future include the introduction of recombinant DNA encoding nl wild-type versions of mutated CMT genes into the nerves of knockout mice. Another approach explores neurotrophin gene transfer into the spinal cord to prevent secondary axonal changes in models of CMT.

Two recent studies of transgenic rodent models of PMP22 mutations revealed promising results. Ascorbic acid reduced PMP22 overexpression and ameliorated the phenotype in a transgenic CMT1A mouse model. A trial is currently underway to address the possible role of high doses of ascorbic acid in CMT1A patients. In a rat model of CMT1A, a selective progesterone antagonist improved the CMT phenotype, whereas administration of progesterone increased PMP22 and MPZ mRNA expression and Schwann cell pathology and led to clinical progression.

In a randomized, double-blind, placebo-controlled trial, Burns et al tested high-dose ascorbic acid (30 mg/kg/d) in 81 children with CMT1A. Although previous studies in nonhuman models have shown decreased PMP22 expression, in this study, no measurable neurophysiologic effect was observed in strength, function, or quality of life outcomes in children treated with high-dose ascorbic acid. [30]

For discussion of the treatment of neuropathic, musculoskeletal, cramping, and other pain, the reader is referred to the many articles that deal with the use of antidepressants and anticonvulsants for dysesthetic pain, nonsteroidal anti-inflammatory agents, and muscle relaxants.


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