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New insights into the pathophysiology of pes cavus in Charcot–Marie–Tooth disease type 1A duplication

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Abstract

Forefoot pes cavus is a cardinal sign of Charcot–Marie–Tooth disease (CMT). This review is focused on the pathophysiology of pes cavus in CMT1A duplication, which is the most common subtype of the disease. Assessment of foot deformities in CMT1A, their prevalence and proposed mechanisms, and recent contributions of magnetic resonance imaging studies of lower-leg and foot musculature are revised. Special attention is given to papers on foot deformities at initial stages of the disease. We conclude that pes cavus is an early and age-dependent manifestation of CMT1A duplication. Selective denervation of intrinsic foot musculature, particularly of the lumbricals, and not imbalance of lower-leg muscles, seems to be the initial mechanism causing reduced ankle flexibility and forefoot cavus deformity.

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Acknowledgments

We are grateful to the patients and family members for their willingness to participate in this study. Patient consent was obtained to publish the figures in this paper. We thank Mr. John Hawins for stylistic revision of the manuscript. This study was supported by CIBERNED and IFIMAV.

Conflicts of interest

The authors declare no conflicts of interest.

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Authors and Affiliations

  1. Service of Neurology, University Hospital “Marqués de Valdecilla” (IFIMAV), “Centro de Investigación Biomédica en Red de Enfermedades Neurodegenerativas (CIBERNED)”, University of Cantabria (UC), 39008, Santander, Spain

    José Berciano, Ana L. Pelayo-Negro, Jon Infante & Onofre Combarros

  2. Service of Radiology, University Hospital “Marqués de Valdecilla” (IFIMAV), “Centro de Investigación Biomédica en Red de Enfermedades Neurodegenerativas (CIBERNED)”, University of Cantabria (UC), Santander, Spain

    Elena Gallardo

  3. Service of Clinical Neurophysiology, University Hospital “Marqués de Valdecilla” (IFIMAV), “Centro de Investigación Biomédica en Red de Enfermedades Neurodegenerativas (CIBERNED)”, University of Cantabria (UC), Santander, Spain

    Antonio García

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  1. José Berciano
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  2. Elena Gallardo
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  3. Antonio García
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Correspondence to José Berciano.

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Berciano, J., Gallardo, E., García, A. et al. New insights into the pathophysiology of pes cavus in Charcot–Marie–Tooth disease type 1A duplication. J Neurol 258, 1594–1602 (2011). https://doi.org/10.1007/s00415-011-6094-x

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