Last reviewed: 7 Nov 2021
Last updated: 09 Mar 2018



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

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

Risk factors

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

Diagnostic investigations

Treatment algorithm



Carly E. Siskind, MS, CGCL

Clinical Assistant Professor (Affiliated)

Certified Genetic Counselor

Stanford Health Care

Stanford University




CES has been given honoraria by the Invitae Corporation for giving a webinar on CMT, and honoraria by the National Society of Genetic Counselors for giving a webinar on neuromuscular conditions. CES is an unpaid member of the Charcot-Marie-Tooth Association Advisory Board. CES has professional relationships with some authors of works found in this monograph.

Richard A. Lewis, MD

Professor of Neurology


EMG Laboratory


Neuromuscular Clinic

Cedars-Sinai Hospital

Los Angeles



RAL is a consultant for Pharnext (currently doing a clinical trial in Charcot-Marie-Tooth disease), 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 monograph.

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 monograph.

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