Cerebral metabolic abnormalities in A3243G mitochondrial DNA mutation carriers

Objective: Assess the prevalence and impact of pain in children with Charcot-Marie-Tooth (CMT) disease. Methods: In this prospective cross-sectional study on children with CMT disease seen at study sites of the Inherited Neuropathy Consortium, we collected standardized assessments of pain (Wong-Baker FACES Pain Rating Scale) from 176 patients (140 children aged 8-18 years, and 36 children aged 2-7 years through parent proxies), along with standardized clinical assessments and quality-of-life (QOL) outcomes. We then developed a series of multivariate regression models to determine whether standardized measures of neuropathy severity, functional impact, or structural changes to the feet explained the observed pain scores. Results: The mean score on the Wong-Baker FACES Pain Rating Scale was 2 (range 0-5). Increased pain strongly correlated with worse QOL scores but not with more severe neuropathy. Independent determinants of increased pain in children with CMT disease included measures of ankle inflexibility. Conclusion: Pain is present in children with CMT disease and negatively affects QOL. Pain scores do not positively correlate with neuropathy severity but do correlate in limited univariate analyses with measures of ankle inflexibility. Further studies to elucidate the mechanisms of pain may help identify treatments that can reduce pain and improve QOL in patients with CMT disease.