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Updated: May 2, 2026

Modeling Charcot-Marie-Tooth Disease In Vitro by Transfecting Mouse Primary Motoneurons
Published on: January 7, 2019
Risk of fracture in patients with Charcot-Marie-Tooth disease
Sander Pouwels1, Anthonius de Boer, Hubert G M Leufkens
1Utrecht Institute for Pharmaceutical Sciences, University of Utrecht, Universiteitsweg 99, 3584, CG Utrecht, The Netherlands.
Introduction:
In this study we evaluated fracture risk in patients with Charcot-Marie-Tooth (CMT) disease.
Methods:
We conducted a retrospective cohort study using the UK Clinical Practice Research Datalink (1987-2012). Each patient with CMT disease was matched with up to 6 patients without a history of CMT disease. The outcome measure was fractures.
Results:
The risk of non-osteoporotic fracture was statistically significantly increased [adjusted hazard ratio (AHR) 1.47, 95% confidence interval (CI) 1.01-2.14], whereas risk of any and osteoporotic fracture did not reach statistical significance compared with control patients [AHR 1.31 (95% CI 0.98-1.74) and AHR 1.10 (95% CI 0.69-1.74), respectively].
Conclusions:
CMT patients have a 1.5-fold increased risk for non-osteoporotic fracture. Studies with larger numbers of CMT patients and with additional data on CMT subtype, bone mineral density, and functional status should be performed to confirm a true association between CMT and an increased risk of fracture.
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