Charcot-Marie-Tooth and pain: correlations with neurophysiological, clinical, and disability findings

Pain is not considered a relevant symptom in Charcot-Marie-Tooth (CMT) patients and no studies have comprehensively assessed it. We performed a multidimensional assessment in 211 consecutive CMT patients to evaluate the clinical features, quality of life (QoL) and disability. For QoL we used the SF-36, which comprises one domain called Bodily Pain (BP), which is a generic measure of intensity of pain. Results showed that pain is a relevant symptom related to gender, CMT subtypes, clinical picture, disability, and mildly to neurophysiological impairment. In our study the importance of pain was an occasional finding. Because of the study design we are not able to ascertain if pain is primarily due to the neuropathy or if it is due to the muscoloskeletal deformities arising as a consequence of the neuropathy. Our study underlined that pain should be considered as a relevant symptom in CMT patients and further studies should be performed.