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

  • Author: Timothy C Parsons, MD; Chief Editor: Nicholas Lorenzo, MD, MHA, CPE  more...
 
Updated: Dec 14, 2015
 

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.[70]

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.[99]

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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Contributor Information and Disclosures
Author

Timothy C Parsons, MD Fellow in EMG and Neuromuscular Disease, Department of Neurology, Columbia University Medical Center, New York

Timothy C Parsons, MD is a member of the following medical societies: American Academy of Neurology

Disclosure: Nothing to disclose.

Coauthor(s)

Thomas H Brannagan III, MD Associate Professor of Clinical Neurology and Director, Peripheral Neuropathy Center, Columbia University, College of Physicians and Surgeons; Co-Director, EMG Laboratory, New York-Presbyterian Hospital, Columbia Campus, New York

Thomas H Brannagan III, MD is a member of the following medical societies: American Academy of Neurology, American Association of Neuromuscular and Electrodiagnostic Medicine, Peripheral Nerve Society

Disclosure: Nothing to disclose.

Specialty Editor Board

Francisco Talavera, PharmD, PhD Adjunct Assistant Professor, University of Nebraska Medical Center College of Pharmacy; Editor-in-Chief, Medscape Drug Reference

Disclosure: Received salary from Medscape for employment. for: Medscape.

Neil A Busis, MD Chief of Neurology and Director of Neurodagnostic Laboratory, UPMC Shadyside; Clinical Professor of Neurology and Director of Community Neurology, Department of Neurology, University of Pittsburgh Physicians

Neil A Busis, MD is a member of the following medical societies: American Academy of Neurology, American Association of Neuromuscular and Electrodiagnostic Medicine

Disclosure: Nothing to disclose.

Chief Editor

Nicholas Lorenzo, MD, MHA, CPE Founding Editor-in-Chief, eMedicine Neurology; Founder and CEO/CMO, PHLT Consultants; Chief Medical Officer, MeMD Inc

Nicholas Lorenzo, MD, MHA, CPE is a member of the following medical societies: Alpha Omega Alpha, American Association for Physician Leadership, American Academy of Neurology

Disclosure: Nothing to disclose.

Additional Contributors

Dianna Quan, MD Professor of Neurology, Director of Electromyography Laboratory, University of Colorado School of Medicine

Dianna Quan, MD is a member of the following medical societies: American Academy of Neurology, American Association of Neuromuscular and Electrodiagnostic Medicine, American Neurological Association

Disclosure: Nothing to disclose.

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