Utility of Charcot-Marie-Tooth Neuropathy Score in children with type 1A disease

The aim of this study was to evaluate the utility of the Charcot-Marie-Tooth Neuropathy Score (CMTNS) for evaluation of disease severity in young children with Charcot-Marie-Tooth type 1A. Current validated scoring scales for Charcot-Marie-Tooth are the CMTNS and the Neuropathy Impairment Score (NIS). Both work well for adult patients, and usually also for children over 10 years of age. There is no validation of scales for young children. Children with genetically proven Charcot-Marie-Tooth type 1A disease (n = 20, aged 3 to 10 years) were examined clinically, followed by electrophysiologic examination, and were scored under the CMTNS scale. The clinical symptoms were mild; the two most frequent symptoms were difficulty in heel walking and lower limb areflexia. The score was maximally abnormal in four of the nine categories. Categories for sensation, sensory symptoms, and motor symptoms of the arms were normal in all cases. The score was below 8 for all tested children. To conclude, the CMTNS in children aged 10 years and younger has limited sensitivity; out of nine categories, only four are useful. Thus, evaluation of disease severity and progression in young children with Charcot-Marie-Tooth disease remains limited, and there is need for other, effective scoring systems.