Skip to main content
CMT Veda AIby CMTFOI

Learn

Learn about CMT

The CMTFOI learning library — evergreen education, evidence and support. Newest published content appears first in every section.

Back to Knowledge Base & Evidence
Knowledge Base & EvidenceResearch

Study Explores Late-Onset Charcot-Marie-Tooth Disease in Older Adults

A 10-year retrospective record review examined patients whose Charcot-Marie-Tooth (CMT) symptoms began after age 50. Researchers found that 8.9% of older adults tested for suspected hereditary nerve conditions had genetically confirmed CMT, often marked by high foot arches, a family history of neuropathy, or specific nerve signal test results.

Why it matters

CMT that starts later in life can be difficult to recognize because its symptoms often resemble other age-related nerve conditions. Recognizing key features—such as high foot arches or a family history of nerve issues—can help doctors order appropriate genetic tests and reach a clear diagnosis sooner.

Key points

  • Type of evidence: A 10-year retrospective record review of 642 patients tested after age 50 at a single clinic.
  • Out of 642 tested patients, 57 (8.9%) were confirmed to have late-onset CMT.
  • High foot arches (80.7%) and a family history of neuropathy (63.2%) were common among those with late-onset CMT, while overall disability remained mild.
  • Genetics involved 20 different genes, most commonly a PMP22 duplication (32%), along with MME, LRSAM1, MPZ, and MFN2.
  • Family history, high foot arches, and slowed median nerve signal speed (< 38 m/s) helped distinguish late-onset CMT from other non-genetic nerve conditions.

A 10-year retrospective record review examined patients whose Charcot-Marie-Tooth (CMT) symptoms began after age 50. Researchers found that 8.9% of older adults tested for suspected hereditary nerve conditions had genetically confirmed CMT, often marked by high foot arches, a family history of neuropathy, or specific nerve signal test results.

Open the original source

Source

Source
PubMed / NCBI
Authors
Etienne Fortanier, Nathalie Bonello-Palot, Annie Verschueren, Ludivine Kouton, Aude-Marie Grapperon, Emmanuelle Salort-Campana, Giovanni Corazza, Virginie Milhe de Bovis, Luce Barbat du Closel, Emilien Delmont, Shahram Attarian
Journal
Journal of neurology
DOI
10.1007/s00415-026-14154-9
PMID
42799779

References

  1. https://pubmed.ncbi.nlm.nih.gov/42799779/

Reviewed and published by CMTFOI. Identified through the CMTFOI Discovery Engine and edited by the CMTFOI editorial team.

CMT Veda AI provides education and awareness only. It does not diagnose any condition and is not a substitute for care from a qualified clinician.