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Charcot-Marie-Tooth disease

Last reviewed: 5 Sep 2023
Last updated: 07 Jun 2022



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
  • hip x-ray
  • pulmonary function testing
More investigations to consider

Treatment algorithm


all patients



Carly E. Siskind, MS, CGCL

Clinical Assistant Professor (Affiliated)

Certified Genetic Counselor

Stanford Health Care

Stanford University




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 is a volunteer member of the Pediatric Best Practices for Charcot Marie Tooth disease panel. 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 was a volunteer speaker at the Charcot Marie Tooth Association Annual Patient and Family Conference 2021. CES has professional relationships with some authors of references cited in this topic.


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


and University Hospital Motol


Czech Republic


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




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

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