Last reviewed: November 2017
Last updated: November  2016

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

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

Risk factors

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

Diagnostic investigations

1st investigations to order

  • nerve conduction studies (NCS)
Full details

Treatment algorithm

ONGOING

Contributors

Authors VIEW ALL

Clinical Assistant Professor (Affiliated)

Certified Genetic Counselor

Stanford Health Care

Stanford University

Stanford

CA

Disclosures

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.

Professor of Neurology

Director

EMG Laboratory

Co-Director

Neuromuscular Clinic

Cedars-Sinai Hospital

Los Angeles

CA

Disclosures

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 VIEW ALL

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.

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 monograph.

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