Comprises a group of hereditary peripheral neuropathies with different genetic abnormalities.
Absence of a family history does not rule out the condition.
Key features include clumsiness as a child, weak ankles, symmetrical nerve conduction changes, and a steppage gait (lifting legs up excessively to clear the toes).
Pes cavus (high foot arches with hammer toes) and distal atrophy of the hands and legs are characteristic.
Genetic testing should be carefully considered.
Appropriate rehabilitative and orthotic treatments can keep patients highly functional.
Charcot-Marie-Tooth (CMT) disease, also known as hereditary motor and sensory neuropathy (HMSN), encompasses the majority of hereditary peripheral neuropathies. Both motor and sensory nerves are typically affected, with symmetrical changes noted on nerve conduction studies. Nerve conductions can be either demyelinating (velocity <38 m/second in ulnar nerve), or axonal (reduced amplitudes with >38 m/second velocity), or have features of both. CMT is a genetically heterogeneous condition, with over 90 genes and loci known to cause the condition when mutated.
History and exam
Carly E. Siskind, MS, CGCL
Clinical Assistant Professor (Affiliated)
Certified Genetic Counselor
Stanford Health Care
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
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.
Pavel Seeman, MD, PhD
Associate Professor (Doc)
Head of the DNA Laboratory
Department of Child Neurology
Second School of Medicine
and University Hospital Motol
PS declares that he has no competing interests.
Kinga Szigeti, MD, PhD
Department of Neurology and Molecular and Human Genetics
Baylor College of Medicine
KS is an author of a reference cited in this monograph.
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