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Estilow, Timothy; Glanzman, Allan M.; Burns, Joshua; Harrington, Ann; Cornett, Kayla; Menezes, Manoj P.; Shy, Rosemary; Moroni, Isabella; Pagliano, Emanuela; Pareyson, Davide; Bhandari, Trupti; Muntoni, Francesco; Laurá, Matilde; Reilly, Mary M.; Finkel, Richard S.; Eichinger, Kate J.; Herrmann, David N.; Troutman, Gregory; Bray, Paula; Halaki, Mark; Shy, Michael E.; Yum, Sabrina W.
Muscle & nerve, September 2019, 2019-09-00, 20190901, Volume: 60, Issue: 3Journal Article
ABSTRACT Introduction: Balance impairment contributes to gait dysfunction, falls, and reduced quality of life in adults with Charcot–Marie–Tooth disease (CMT) but has been minimally examined in pediatric CMT. Methods: The CMT Pediatric Scale (CMTPedS) was administered to 520 children with CMT. Associations between balance function (Bruininks–Oseretsky Test of Motor Proficiency BOT‐2) and sensorimotor and gait impairments were investigated. Results: Daily trips/falls were reported by 42.3% of participants. Balance (BOT‐2) varied by CMT subtype, was impaired in 42% of 4‐year‐olds, and declined with age (P < 0.001). Vibration (P < 0.001), pinprick (P < 0.004), ankle dorsiflexion strength (P < 0.001), and foot alignment (P < 0.004) were associated with BOT‐2 balance (adjusted R2 = 0.28). The visual dependence of balance increased with age. Discussion: Balance impairment occurs from a young age in children with CMT. Balance intervention studies are required in pediatric CMT and should consider the degree of sensorimotor impairment, foot malalignment, and visual dependence. Muscle Nerve, 2019
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