Genetic and metabolic medicine
Hereditary motor and sensory neuropathy (Charcot-Marie-Tooth disease)
The commonest inherited neuropathy. Pes cavus, distal wasting and areflexia over decades, the 38 m/s nerve conduction cut-off between CMT1 and CMT2, PMP22 duplication testing first, telling CMT from CIDP, inheritance patterns, supportive care and the vincristine warning.
Tier 2Condition
Written with AI assistance and fact-checked against the sources below. For exam study, not clinical decisions. How notes are made
At a glance
- Charcot-Marie-Tooth disease (CMT, also called HMSN) is the commonest inherited neuropathy, about 1 in 2,500.
- Slowly progressive, length-dependent motor and sensory neuropathy, starting in the first two decades. Life expectancy is normal.
- Classified by nerve conduction velocity (CMT1 demyelinating, CMT2 axonal, intermediate) and then by gene. Over 100 genes are known, but four account for about 90% of genetically confirmed cases: PMP22, GJB1, MPZ and MFN2.
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Sources
- Sivera Mascaró R, García Sobrino T, Horga Hernández A et al. Clinical practice guidelines for the diagnosis and management of Charcot-Marie-Tooth disease. Neurologia (Engl Ed) 2025;40:290-305Spanish Society of Neurology (Neurología), 2025
- England JD, Gronseth GS, Franklin G et al. Practice parameter: evaluation of distal symmetric polyneuropathy: role of laboratory and genetic testing (an evidence-based review). Neurology 2009;72:185-192American Academy of Neurology, 2009
- Van den Bergh PYK, van Doorn PA, Hadden RDM et al. European Academy of Neurology/Peripheral Nerve Society guideline on diagnosis and treatment of chronic inflammatory demyelinating polyradiculoneuropathy. J Peripher Nerv Syst 2021;26:242-268EAN/PNS, 2021
- Charcot-Marie-Tooth hereditary neuropathy overview (GeneReviews)University of Washington, Seattle (NCBI Bookshelf)
- Charcot-Marie-Tooth Association AustraliaAU/NZCMT Association of Australia
- Last updated
- 14 November 2026
What changed
- 14 November 2026 Turnstile bot check on sign-in and signed-out feedback