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Using the CMTPedS as an outcome measure of disease severity, children with CMT progress at a significant rate over 2 years. Understanding the rate at which children with CMT deteriorate is essential for adequately powering trials of disease-modifying interventions. Ann Neurol 2017;82:353-359.

Pipis et al . describe the characteristics and longitudinal follow-up of 225 patients with Charcot-Marie-Tooth disease type 2A, caused by mutations in MFN2 . They describe how different mutations affect disease onset and rate of progression and identify sensitive clinical assessments that can be used for disease monitoring.

NF1Neurofibromatosis type 1 AIM To investigate if children with neurofibromatosis type 1 (NF1) have reduced muscle strength compared with children with typical development.METHOD Maximal isometric strength of 15 upper and lower limb muscle groups was evaluated in 30 children with NF1 (16 males, 14 females; aged 4-16y) and 30 age-, sex-, height-, and weight-matched controls using hand-held dynamometry by a single evaluator.Both the left and right sides were assessed.RESULTS Children with NF1 were significantly weaker than children with typical development across all 15 muscle groups assessed (p<0.05). Apart from elbow flexion, there were no differences between the left and right sides (p>0.05). Magnitude of differences between the children with NF1 compared with the controls ranged from 3% to 43%. Males and females were equally affected.

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The CMT-FOM is well tolerated and showed no floor/ceiling effects in an adult CMT1A cohort matching those likely to enter upcoming clinical trials. It appears to be reliable, and our data support convergent and known-groups validity in adults with CMT1A. Longitudinal studies further examining the psychometric properties of the CMT-FOM and its responsiveness to change before its application in therapeutic trials are necessary.

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