Osseous Morphology Differences in the Foot and Ankle Associated with Charcot-Marie-Tooth Disease

Melissa R Requist; Andrew C Peterson; Timothy C Beals; Bopha Chrea; Amy L Lenz

doi:10.1093/jbmrpl/ziaf058

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Osseous Morphology Differences in the Foot and Ankle Associated with Charcot-Marie-Tooth Disease

Journal article

Open access

Peer reviewed

Osseous Morphology Differences in the Foot and Ankle Associated with Charcot-Marie-Tooth Disease

Melissa R Requist, Andrew C Peterson, Timothy C Beals, Bopha Chrea and Amy L Lenz

JBMR plus, Vol.9(6), ziaf058

04/30/2025

DOI: 10.1093/jbmrpl/ziaf058

PMCID: PMC12087961

PMID: 40390806

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Abstract

Charcot-Marie-Tooth disease (CMT) is a genetic, progressive peripheral nerve disease that commonly manifests in a cavovarus foot deformity. Previously, this foot deformity has been believed to be an alignment change in the foot, but recent research has shown that there are bone morphology differences in individuals with CMT. Differences in bone morphology have been identified in the calcaneus, talus, and medial cuneiform, but have not been consistently analyzed throughout the foot or studied in relation to different genetic subtypes of CMT. This study is a retrospective, cross-sectional analysis of bone morphology in CMT using weight bearing computed tomography and statistical shape modeling. This analysis identified bone morphology differences between CMT and control groups throughout the hindfoot, midfoot, and forefoot. Bone morphology differences were also present between the two primary disease subtypes throughout the foot. Key morphologic findings include altered shape of the subtalar articular surfaces on the talus, bending of the metatarsals, variation in navicular process morphology, and differences between subtypes in the talus, medial cuneiform, and medial metatarsals. There are several possible theoretical mechanisms for this osseous deformation including bone remodeling in response to altered loading from alignment change or from decreased musculotendinous forces, but the patterns of morphology variation seen in these data cannot be fully explained by these mechanisms, suggesting that there may be an interaction between the neuronal disease and bone remodeling. Future work is necessary to characterize the progression of bony deformity throughout development and to correlate bone shape with function, gait, and muscle morphology and strength to elucidate the mechanism of osseous morphology change in varying subtypes of CMT.

Charcot-Marie-Tooth disease

Statistical Shape Modeling

Bone morphology

Foot and Ankle

Weight-bearing CT

cavovarus deformity

Details

Title: Subtitle: Osseous Morphology Differences in the Foot and Ankle Associated with Charcot-Marie-Tooth Disease
Creators: Melissa R Requist - University of Utah
Andrew C Peterson - University of Utah
Timothy C Beals - University of Utah
Bopha Chrea - University of Iowa
Amy L Lenz - University of Utah
Resource Type: Journal article
Publication Details: JBMR plus, Vol.9(6), ziaf058
DOI: 10.1093/jbmrpl/ziaf058
PMID: 40390806
PMCID: PMC12087961
NLM abbreviation: JBMR Plus
ISSN: 2473-4039
eISSN: 2473-4039
Publisher: OXFORD UNIV PRESS
Grant note: University of Utah VPR Seed GrantUniversity of Utah Pediatric Orthopaedic Foundation GrantNational Institutes of Health (NIAMS): K01AR080221
The author(s) disclosed receipt of the following financial support for the research, authorship, and/or publication of this article: Funding was provided by the University of Utah VPR Seed Grant, University of Utah Pediatric Orthopaedic Foundation Grant, and National Institutes of Health (NIAMS, K01AR080221).
Language: English
Electronic publication date: 04/09/2025
Date published: 04/30/2025
Academic Unit: Orthopedics and Rehabilitation
Record Identifier: 9984808283302771

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