Pain and small fiber function in charcot–marie–tooth disease type 1A


  • 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.


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