M.K. and M.M.R. contributed equally to this study.
Pain and small fiber function in charcot–marie–tooth disease type 1A
Article first published online: 15 MAY 2014
Copyright © 2014 Wiley Periodicals, Inc.
Muscle & Nerve
Volume 50, Issue 3, pages 366–371, September 2014
How to Cite
Laurà, M., Hutton, E. J., Blake, J., Lunn, M. P., Fox, Z., Pareyson, D., Solari, A., Radice, D., Koltzenburg, M. and Reilly, M. M. (2014), Pain and small fiber function in charcot–marie–tooth disease type 1A. Muscle Nerve, 50: 366–371. doi: 10.1002/mus.24169
This study was funded by a grant from the Muscular Dystrophy Campaign (RA3/736/1). M.M.R. and M.K. are grateful to the Medical Research Council (MRC) for their support. M.M.R. is grateful for a grant support from the NINDS/ORD (1U54NS065712-01). This work was undertaken at University College London Hospitals/University College London, which received a proportion of funding from the Department of Health's National Institute for Health Research Biomedical Research Centres funding scheme.
- Issue published online: 19 AUG 2014
- Article first published online: 15 MAY 2014
- Accepted manuscript online: 7 JAN 2014 04:15AM EST
- Manuscript Accepted: 5 JAN 2014
- Manuscript Revised: 30 DEC 2013
- Manuscript Received: 16 AUG 2013
- small fiber;
- thermal thresholds
Introduction: Charcot–Marie–Tooth (CMT) disease type 1A is the most common form of CMT. The main clinical features are distal weakness, sensory loss, and skeletal deformities. Although pain is a frequent complaint, small fiber involvement in CMT1A has not been studied extensively. Methods: We assessed pain and small fiber involvement in 49 CMT1A patients using a variety of pain scales, pain questionnaires, and thermal thresholds. Results: Forty-three of 49 patients (88%) complained of pain. The pain was localized to the feet in 61% of patients. Only 18% of patients had neuropathic pain. Cold and warm detection thresholds were elevated in 53% and 12% of patients, respectively. Conclusions: Our findings confirm that CMT1A patients have significant pain, which is more likely to be multifactorial in origin and suggests that a proportion of patients have small fiber dysfunction affecting mainly thinly myelinated Aδ fibers. Muscle Nerve 50: 366–371, 2014