Charcot-Marie-Tooth and Other Hereditary Motor and Sensory Neuropathies Follow-up

Updated: May 22, 2018
  • Author: Timothy C Parsons, MD; Chief Editor: Nicholas Lorenzo, MD, MHA, CPE  more...
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Follow-up

Deterrence/Prevention

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.

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Complications

Patients with CMT are more susceptible to compression neuropathies and radiculopathies. Sprains and fractures are disabling and avoidable.

Medication toxicity is important to recognize when it occurs so that the offending agent can be discontinued. Preventing exposure to neurotoxic medications when possible is preferable. Weimer and Podwall found 26 case reports of CMT and toxic medication effects; 22 of these reports pertained to vincristine, 2 implicated nucleoside analogs, 2 cisplatin, 1 carboplatin, and 1 taxoids. The 22 reports about vincristine included 30 patients, and 26 of these patients had undiagnosed CMT. Only 10 had overt clinical signs or a known close relative with CMT, and many of them developed symptoms after only 1 or 2 doses. [102]

Vinca alkaloid (Vincristine) is considered a definite high-risk medication for the development of CMT (including asymptomatic CMT). Prior to use, all patients should be asked about a family history of neuropathy and joint deformity and examined for clinical signs of a chronic neuropathy.

Commonly used medications that pose moderate to significant risk include the following:

  • Amiodarone (Cordarone)

  • Bortezomib (Velcade)

  • Cisplatin and Oxaliplatin

  • Colchicine (extended use)

  • Metronidazole (extended use)

  • Nitrofurantoin

  • Pyridoxine (mega dose of Vitamin B-6)

  • Taxols (paclitaxel, docetaxel)

A complete list of potentially neurotoxic drugs can be found at the Charcot-Marie-Tooth Association.

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Prognosis

Life expectancy is not altered in all but the most severe cases. Disability is highly variable within and between kindreds and cannot be predicted with any certainty, even among siblings. More marked disability does seem to be linked to earlier onset.

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Patient Education

The CMT Association is a nonprofit organization concerned with patient support, public education, and promotion and support of research into the cause and treatment of CMT.

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