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

Updated: May 22, 2018
  • Author: Timothy C Parsons, MD; Chief Editor: Nicholas Lorenzo, MD, MHA, CPE  more...
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There are no definitive medical therapies for CMT. Steroid responsive forms of Charcot-Marie-Tooth disease were originally recognized by Dyck in 1982. This finding has also been reported several times in patients with MPZ mutations and atypical features such as elevated CSF protein. [93, 94] These may be patients with superimposed CIDP. [95] It is unlikely that immunomodulatory therapy will be effective in typical cases of CMT.

Ascorbic acid has been shown to repress PMP22 gene expression in a dose-dependent manner, and multicenter international trials of long-term ascorbic acid treatment for CMT1A are underway. [96, 97] The CMT-TRIAAL and CMT-TRAUK trial was a multicenter, 2-year trial to test the efficacy and tolerability of ascorbic acid in patients with CMT1A. [98] The results suggest that ascorbic acid supplementation had no significant effect on neuropathy compared with placebo after 2 years, suggesting that no evidence is available to support treatment with ascorbic acid in adults with CMT1A.

Studies in animal models have shown reduction in PMP22 mRNA levels and clinical improvement after treatment with progesterone antagonists. These findings may lead to a clinical trial. [99] Clinical tools have been developed to follow progression of the disease in preparation for therapeutic trials. [100]

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