ObjectiveTo prospectively study falls in children and adolescents with Charcot-Marie-Tooth disease (CMT).DesignProspective cohort study.SettingNeuromuscular outpatient clinic of a tertiary paediatric hospital.PatientsSixty children and adolescents (‘children’) aged 4–18 years, 30 with CMT and 30 typically developing (TD).Main outcome measuresFalls rate over 6 months and falls characteristics questionnaire.ResultsTwenty-two children with CMT reported falling at least once in 6 months compared with eight TD children (CMT 2819 (0–1915), TD 31 (0–6) total falls (range)). Detailed falls characteristics were collected from 242 individual falls (CMT 216, TD 26). Injurious falls were reported by 19 children with CMT (74 falls) compared with 2 TD children (3 falls), with cuts, grazes and bruising most common. No fractures were sustained and no child required hospitalisation. However, 12 injuries from falls in children with CMT required management by a healthcare provider, versus none in TD children. Tripping was the most common mechanism of falls in both groups. Age was the strongest predictor of falls (ρ=−0.53, p=0.006) with all children (CMT and TD) aged <7 years falling. Balance was the strongest impairment-related predictor of falls (ρ=−0.47, p=0.02). The conservative estimate of risk of falls in children and adolescents with CMT was 33 times higher than their TD peers (incidence rate ratio=32.8, 95% CI 10.2 to 106.0).ConclusionsChildren and adolescents with CMT fall more often than TD peers and sustain more injuries when they fall.
Crystallization and preliminary X-ray analysis of a native human tRNA synthetase whose allelic variants are associated with Charcot–Marie–Tooth disease