Background/aims High-intensity power training has been shown to be effective in improving muscular capabilities, functional performance and health-related quality of life in populations with physical impairments. However, the effectiveness of high-intensity power training in people with Charcot–Marie–Tooth disease remains uncertain. This case series investigated the effects of high-intensity power training on muscle performance, function and health-related quality of life in middle-aged women with Charcot-Marie-Tooth disease. Methods Four women (age 51–58 years) with Charcot–Marie–Tooth disease type 1A participated in 8 weeks of supervised high-intensity power training. Results All participants improved strength of the right hip abductors (46.7–109.7%) and left hip abductors (27.3–128.6%), maximal gait speed (2.3–9.1%), static balance (0.7–4.9%), tandem walk (−3.3 to −58.5%), and mental component scores on the Short Form 36 Health Status Survey (0.8–27.6%). Adherence to high-intensity power training was 100% and only one minor adverse event related to the intervention was reported. Conclusions Although promising, larger controlled studies are indicated to confirm the safety and efficacy of high-intensity progressive resistance and power training in this cohort.

Charcot-Marie-Tooth (CMT) is a rare inherited peripheral neuropathy in which quality of life (QoL) is reduced compared with the general population. This paper investigates the relationship between QoL and physical performance in people with CMT with the aim of identifying avenues for future research into rehabilitation strategies. Cross-sectional data was obtained from 10 participants (5 men, 5 women, age 46 ± 13 years, height 1.7 ± 0.1 m, body mass 77 ± 17 kg) with CMT (CMT1A n = 5; CMT-X n = 3; unknown genetic origin n = 2). Participants were evaluated for QoL, falls efficacy (FES), balance, mobility, muscle strength, and power. Physical component score (PCS) of the Short Form-36 (SF-36) was significantly and directly related to higher leg press power (r = 0.75, p = 0.02). Better FES scores were significantly related to faster habitual gait speed (r = -0.70, p = 0.02), left hip abduction, and seated row strength (r = -0.68, p = 0.03; r = -0.73, p = 0.03, respectively). Future research should aim to substantiate these preliminary findings in a larger cohort and investigate whether interventions targeting muscle strength and power can improve QoL and mobility outcomes in people with CMT.

This systematic review with a meta-analysis of studies was carried out to evaluate the potential of overwork weakness on the basis of grip strength of dominant and nondominant hands in individuals with Charcot-Marie-Tooth disease (CMT). Numerous electronic databases were searched from the earliest records to February 2016. Studies of any design including participants older than 18 years of age with a confirmed diagnosis of CMT that measured grip strength of both hands using dynamometric testing were eligible for inclusion. Of 12 593 articles identified following removal of duplicates, five articles fulfilled the criteria. A total of 166 participants, mostly with CMT1 or CMT2, were described from the studies included. Hand and finger pinch grip strength for the dominant compared with the nondominant hand was not statistically different. There is no definitive evidence that preferential use of the dominant hand in CMT impairs function relative to the nondominant hand. Thus, robust exercise trials of progressive resistance training are needed to understand the extent of adaptations possible and provide evidence of the safety of such regimens.

Our study seems to suggest that assessing of body composition could assist with monitoring of disease progression in people with Charcot-Marie Tooth; however these findings need to be substantiated in a larger cohort. Implications for Rehabilitation Higher lean body mass and lower fat mass of the legs is associated with better physical performances in people with Charcot-Marie-Tooth disease. Lower fat mass is related to greater quality of life and reduced clinical symptoms in people with Charcot-Marie-Tooth disease. Optimising favorable body composition profiles (higher lean body mass and lower fat mass) in people with Charcot-Marie-Tooth disease may be highly clinically relevant.