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• W2169558846 abstract "Charcot‐Marie‐Tooth (CMT) disease is the most common inherited neuromuscular disorder, presenting with symptoms often occurring since childhood, and showing a progressive course. At present, there are no valid and reliable measures for evaluation of impairment and disability in the pediatric population. The aim of this study was to determine the usefulness of outcome measures, commonly used in adult patients, in CMT children. We report the results of a comprehensive evaluation of 21 children affected with CMT type 1A, including clinical examinations, measure of hand and foot muscle strength with a hand‐held dynamometer, and the following scales: CMT Neuropathy Score or its clinical component CMT Examination Score, Overall Neuropathy Limitations Scale (ONLS), Walk‐12 questionnaire, and nine‐hole peg test (9‐HPT). Hand grip, three‐point pinch, and foot dorsiflexion strength were significantly lower than age/sex equivalent in almost all cases. 9‐HPT was significantly abnormal in 62% of patients and CMT Examination Score was <10 points in all cases. ONLS showed presence of minor disability in the upper limbs in 57% and mild abnormalities of gait in 71% of patients. Overall, these scales demonstrated limited potential to measure disability and severity of the disease confirming that it is necessary to identify specific scales for children with CMT." @default.
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• W2169558846 date "2011-09-01" @default.
• W2169558846 modified "2023-10-16" @default.
• W2169558846 title "Outcome measures for Charcot-Marie-Tooth disease: clinical and neurofunctional assessment in children" @default.
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• W2169558846 doi "https://doi.org/10.1111/j.1529-8027.2011.00357.x" @default.
• W2169558846 hasPubMedCentralId "https://www.ncbi.nlm.nih.gov/pmc/articles/3917107" @default.
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