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
- sensory ataxia
- kyphoscoliosis
Risk factors
- family history of neuropathy, pes cavus (high foot arches with hammertoes), or abnormal gait
Diagnostic tests
1st tests to order
- nerve conduction studies (NCS)
Tests to consider
- genetic testing
- hip x-ray
- x-rays of cervical, thoracic, and lumbar spine and pelvis
- nerve ultrasound
- nerve biopsy
- 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. CES is a consultant for Guidepoint, conducting approximately five consultations a year of which may include consults for Charcot-Marie-Tooth disease. 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 gives lectures to Genetics graduate students at Stanford University. 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
Reza Sadjadi, MD
Neurologist
Director, Charcot-Marie-Tooth (CMT) Center of Excellence
Assistant Professor of Neurology
Harvard Medical School
Boston
MA
Disclosures
RS declares that he has no competing interests.
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.
Peer reviewer acknowledgements
BMJ Best Practice topics are updated on a rolling basis in line with developments in evidence and guidance. The peer reviewers listed here have reviewed the content at least once during the history of the topic.
Disclosures
Peer reviewer affiliations and disclosures pertain to the time of the review.
References
Key articles
Saporta AS, Sottile SL, Miller LJ, et al. Charcot-Marie-Tooth disease subtypes and genetic testing strategies. Ann Neurol. 2011 Jan;69(1):22-33. Abstract
Shy M, Lupski JR, Chance PF, et al. The hereditary motor and sensory neuropathies: an overview of the clinical, genetic, electrophysiologic and pathologic features. In: Dyck PJ, ed. Peripheral neuropathy. Vol 2. 4th ed. Philadelphia, PA: WB Saunders; 2005:1623-58.
Yiu EM, Bray P, Baets J, et al. Clinical practice guideline for the management of paediatric Charcot-Marie-Tooth disease. J Neurol Neurosurg Psychiatry. 2022 May;93(5):530-8.Full text Abstract
Murphy SM, Laura M, Fawcett K, et al. Charcot-Marie-Tooth disease: frequency of genetic subtypes and guidelines for genetic testing. J Neurol Neurosurg Psychiatry. 2012 Jul;83(7):706-10. Abstract
Reference articles
A full list of sources referenced in this topic is available to users with access to all of BMJ Best Practice.
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