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
- kyphoscoliosis
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)
Investigations to consider
- genetic testing
- hip x-ray
- pulmonary function testing
Treatment algorithm
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 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.
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
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.
Differentials
- Diabetic neuropathy
- Chronic inflammatory demyelinating polyneuropathy
- Acquired peripheral neuropathy
More DifferentialsGuidelines
- Clinical practice guideline for the management of paediatric Charcot-Marie-Tooth disease
- Guidelines for the molecular diagnosis of neurogenetic disorders: motoneuron, peripheral nerve and muscle disorders
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