Charcot-Marie-Tooth and Other Hereditary Motor and Sensory Neuropathies Treatment & Management

Updated: Sep 27, 2022
  • Author: Timothy C Parsons, MD; Chief Editor: Nicholas Lorenzo, MD, CPE, MHCM, FAAPL  more...
  • Print

Medical Care

Management of orthopedic complications is paramount.

  • The common foot deformities of CMT can lead to discomfort, impaired ambulation, and disability and should be managed with physical therapy, which can be both preventive and therapeutic. Stretching, exercises, and adaptive maneuvers can all be helpful.

  • Ankle weakness and instability can be treated with boots or orthoses, and can ease ambulation, keep patients active, and prevent potentially disabling injuries such as sprains or ankle fractures.

  • While dysesthetic pain is not typical, it can occur, and responds to medications commonly used for neuropathic pain such as tricyclic antidepressants or anticonvulsants.

  • More commonly, patients experience local musculoskeletal pain resulting from abnormal posture or overuse of certain muscle groups brought on by weakness or joint deformity. [92] Joint deformity itself may be painful. NSAIDs and acetaminophen are first-line therapies.

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]


Surgical Care

If foot deformities are disabling, patients may benefit from tendon transfers or lengthening (especially the Achilles tendon), hammer toe correction, and release of the plantar fascia. The ankle can be fused to provide stability. Ideally, conservative measures such as those mentioned above, if instituted early, can prevent surgery. [101]



See the list below:

  • Physiatrists

  • Physical therapists

  • Orthotics specialists

  • Podiatrists

  • Genetic counseling



A balanced diet is important to prevent obesity and diabetes, both of which can compound disability and pain and contribute to the development of certain entrapment neuropathies.



Activity as tolerated. Moderate activity is recommended. Overexertion should be avoided.



Even if patients and carriers were to abstain from having children, CMT mutations occur de novo with some regularity and the disease would remain prevalent. Boerkoel and colleagues found that one third (6 of 16) of the point mutations detected in their series of 159 patients represent de novo events. [42]  As examined by Hoogendijk and colleagues, of 10 patients with CMT1 and no family history, 9 of them had PMP22 duplications. [72]

Prevention should focus on avoiding conditions that can cause or worsen generalized or focal neuropathy, such as diabetes mellitus, vitamin deficiency, medication toxicity, and prolonged immobilization of limbs during surgery.