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Charcot-Marie-Tooth disease

Last reviewed: 9 Apr 2025
Last updated: 10 Dec 2024

Summary

Definition

History and exam

Key diagnostic factors

  • family history of neuropathy, pes cavus, or abnormal gait
  • walking difficulties
  • pes cavus
  • steppage gait
  • diffuse deep tendon hyporeflexia or areflexia
  • reduced muscle strength
  • reduced sensation
  • transient sensory symptoms
  • transient motor symptoms
Full details

Other diagnostic factors

  • past surgery to feet and ankles
  • balance difficulties in childhood
  • ankle weakness
  • sensory abnormalities in hands and feet
  • toe-walking
  • delayed motor milestones
  • sensory ataxia
  • kyphoscoliosis
Full details

Risk factors

  • family history of neuropathy, pes cavus (high foot arches with hammertoes), or abnormal gait
Full details

Diagnostic tests

1st tests to order

  • nerve conduction studies (NCS)
Full details

Tests to consider

  • genetic testing
  • hip x-ray
  • x-rays of cervical, thoracic, and lumbar spine and pelvis
  • nerve ultrasound
  • nerve biopsy
  • pulmonary function testing
Full details

Treatment algorithm

ONGOING

all patients

Contributors

Authors

Carly E. Siskind, MS, CGCL

Clinical Assistant Professor (Affiliated)

Certified Genetic Counselor

Stanford Health Care

Stanford University

Stanford

CA

Disclosures

CES has an unpaid position on the Charcot-Marie-Tooth Association Advisory board. CES is a consultant for Guidepoint, conducting approximately five consultations a year of which may include consults for Charcot-Marie-Tooth disease. CES has received institutional funding from an Inherited Neuropathies Consortium research grant, funded by the Muscular Dystrophy Association and the National Institute for Health. CES gives lectures to Genetics graduate students at Stanford University. CES has professional relationships with some authors of references cited in this topic.

Acknowledgements

Dr Carly E. Siskind would like to gratefully acknowledge Prof Richard A Lewis, her previous co-contributor to this topic.

Disclosures

RAL is a consultant for Pharnext, CSL Behring, and Axelacare. He is on the Medical Advisory Board for GBS-CIDP Foundation, MGFA, and MGF of Ca. He has done expert testimony related to GBS, CIDP, and other neurologic disorders, and educational talks for AAN, AANEM, CSL Behring, and Optioncare. With the exception of Pharnext, none of these relationships are related to Charcot-Marie-Tooth disease. RAL is an author of a number of references cited in this topic.

Peer reviewers

Reza Sadjadi, MD

Neurologist

Director, Charcot-Marie-Tooth (CMT) Center of Excellence

Assistant Professor of Neurology

Harvard Medical School

Boston

MA

Disclosures

RS declares that he has no competing interests.

Pavel Seeman, MD, PhD

Associate Professor (Doc)

Head of the DNA Laboratory

Department of Child Neurology

Second School of Medicine

Charles University

Prague

and University Hospital Motol

Prague

Czech Republic

Disclosures

PS declares that he has no competing interests.

References

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Key articles

Saporta AS, Sottile SL, Miller LJ, et al. Charcot-Marie-Tooth disease subtypes and genetic testing strategies. Ann Neurol. 2011 Jan;69(1):22-33. Abstract

Shy M, Lupski JR, Chance PF, et al. The hereditary motor and sensory neuropathies: an overview of the clinical, genetic, electrophysiologic and pathologic features. In: Dyck PJ, ed. Peripheral neuropathy. Vol 2. 4th ed. Philadelphia, PA: WB Saunders; 2005:1623-58.

Yiu EM, Bray P, Baets J, et al. Clinical practice guideline for the management of paediatric Charcot-Marie-Tooth disease. J Neurol Neurosurg Psychiatry. 2022 May;93(5):530-8.Full text  Abstract

Murphy SM, Laura M, Fawcett K, et al. Charcot-Marie-Tooth disease: frequency of genetic subtypes and guidelines for genetic testing. J Neurol Neurosurg Psychiatry. 2012 Jul;83(7):706-10. Abstract

Reference articles

A full list of sources referenced in this topic is available to users with access to all of BMJ Best Practice.
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