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Background: Disability related to the progressive and degenerative neuropathies known collectively as Charcot-Marie-Tooth disease (CMT) affects gait and function, increasing with age and influencing physical activity in adults with CMT. The relationship between CMT-related disability, ambulatory function and physical activity in children and adolescents with CMT is unknown., Method: A cross-sectional case-controlled study of physical activity in 50 children with CMT and age- and gender-matched typically developing (TD) controls [mean age 12.5 (SD 3.9) years]. A 7-day recall questionnaire assessed physical activity; CMT-related disability and gait-related function were measured to explore factors associated with physical activity., Results: Children with CMT were less active than TD controls (estimated weekly moderate to vigorous physical activity CMT 283.6 (SD 211.6) minutes, TD 315.8 (SD 204.0) minutes; p < 0.001). The children with CMT had moderate disability [CMT Pediatric Scale mean score 17 (SD 8) /44] and reduced ambulatory capacity in a six-minute walk test [CMT 507.7 (SD 137.3) metres, TD 643.3 (74.6) metres; p < 0.001]. Physical activity correlated with greater disability (ρ = -0.56, p < 0.001) and normalised six-minute walk distance (ρ = 0.74, p < 0.001)., Conclusions: CMT-related disability affects physical activity and gait-related function in children and adolescents with CMT compared to TD peers. Reduced physical activity adversely affects function across the timespan of childhood and adolescence into adulthood in people with CMT., Competing Interests: The authors have declared that no competing interests exist.

Background: A countermovement jump (CMJ) is routinely used in many sporting settings to provide a functional measure of neuromuscular fatigue. However, the variables that are most sensitive to fatigue remain somewhat unclear. The purpose of this study was to determine the acute changes in neuromuscular fatigue in rugby union players during a period of preseason training., Methods: Nine male (age: 19.0±1.5 years) academy rugby union players performed five CMJ trials on three occasions, at baseline, 24 hours and 48 hours postbaseline. The fatiguing protocol consisted of multiple high-intensity training sessions commensurate with the period of preparation and the sport. A total of 14 CMJ variables were derived from the force-time curve. Meaningful differences in CMJ performance were examined using the magnitude of change (effect sizes; ES) compared to baseline., Results: Most variables, 9 of the 14, showed substantial decreases at 24 hours postbaseline. Mean concentric power, peak velocity, jump height and force at zero velocity were impaired by the greatest magnitude (ES=-0.98 to -1.57). At 48 hours postbaseline, substantial increases in eccentric duration, concentric duration and total duration were first observed (ES=0.48 to 0.61). Concomitantly, peak power, peak velocity and jump height, recovered to baseline levels., Conclusions: During the late regeneration phase, neuromuscular fatigue can manifest itself as an altered movement strategy, rather than as a simple reduction in physical output such as jump height. Practitioners are therefore advised to incorporate a wide range of variables when trying to identify subtle changes in the bimodal recovery pattern associated with stretch-shortening cycle induced fatigue.

Purpose: To record the use and perceived benefits of mainstream allied health services, complementary therapies, nutritional supplements and structured physical activity in a paediatric population of males with Duchenne or Becker muscular dystrophy., Method: A questionnaire was distributed to 125 parents of males with a dystrophinopathy within a tertiary neuromuscular clinic population in Melbourne, Australia., Results: Response rate to the survey was 41%. Most families (73%) reported use of allied health services: physiotherapy (65%), occupational therapy (47%), and psychology (25%). The most commonly used complementary therapy was massage (31%). Sixty-five percent of families reported using nutritional supplements. Fifty-one and 38% of families reported participation in swimming and other organised sports, respectively. Physical and psychological benefits of sporting activities were identified by families. Participation in physical activity was lowest in those transitioning to full-time wheelchair use., Conclusions: Access to allied health services by boys with dystrophinopathies is variable and inconsistent with published international standards of care. There is frequent use of complementary therapies, despite a lack of proven efficacy. Studies of the effects of such therapies would support provision of evidence-based advice to families. Continued involvement in physical activity for those boys with declining function should be supported by clinicians.