LAUSR

Abstract Aim: To investigate whether the amount and distribution of lean body mass and fat mass is associated with disease severity in adults with Charcot-Marie Tooth. Methods: Ten participants (age 46 ± 13 y, height 1.7 ± 0.1 m, and body mass 77 ± 17 kg) with Charcot-Marie Tooth disease were involved in this study. Participants were evaluated for quality of life, falls efficacy, balance, mobility, muscle strength, and power. Body composition was measured using dual energy x-ray absorptiometry. Statistical analyses were conducted on subsets of all participants. Results: Better static balance was associated with higher lean body mass of the lower leg (r = 0.73, p = 0.03), while superior leg press strength and power was associated with greater lean body mass of the leg and lower leg (r ≥ 0.80, p ≤ 0.01). Faster habitual walking speed and enhanced quality of life was associated with lower fat mass of several regions. Conclusion: 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.