Charcot-Marie-Tooth disease

Last reviewed: 20 Apr 2022
Last updated: 08 Feb 2022

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
More key diagnostic factors

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 without ambulation
  • sensory ataxia
  • kyphoscoliosis
Other diagnostic factors

Risk factors

  • family history of neuropathy, pes cavus (high foot arches with hammertoes), or abnormal gait
More risk factors

Diagnostic investigations

1st investigations to order

  • nerve conduction studies (NCS)
More 1st investigations to order

Investigations to consider

  • genetic testing
More investigations to consider

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 and is part of the Charcot Marie Tooth Disease Gene Curation Expert Panel for ClinGen. 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. 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

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.

Kinga Szigeti, MD, PhD

Assistant Professor

Department of Neurology and Molecular and Human Genetics

Baylor College of Medicine

Neurosensory Center

Houston

TX

Disclosures

KS is an author of a reference cited in this topic.

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