title: Charcot-Marie-Tooth 1A patients with low level of impairment have a higher energy cost of walking than healthy individuals.
abstract: The study aimed at quantifying the walking energy cost of a group of Charcot-Marie-Tooth 1A patients (CMT1A), with low severity of walking impairment, in comparison with healthy individuals. Oxygen uptake was measured in 8 patients (age-range 20-48 years; Barthel >90; Tinetti >20) and 8 healthy individuals, matched for age and gender, when walking on a circuit for 5-min at their self-selected speeds ("slow", "comfortable" and "fast"). Both comfortable and fast speeds were lower in patients than in the control group (0.92±0.16 vs 1.16±0.22 and 1.27±0.27 vs 1.61±0.22 m s⁻¹, respectively; P<0.05), whereas walking energy cost per unit of distance was higher in patients than in the control group (P<0.05) at both "comfortable" (2.27±0.35 vs 1.92±0.21 J kg⁻¹m⁻¹) and "fast" speed (3.05±0.35 vs 2.37±0.42 J kg⁻¹m⁻¹). CMT1A patients, therefore, choose to walk slower but with higher metabolic cost compared to healthy individuals, despite no clinically evident walking impairment, which is likely due to altered walking patterns.
authors.affiliation: Department of Human Movement and Sport Sciences, University of Rome Foro Italico, Rome, Italy.
authors.forename: Federica
authors.initials: F
authors.lastname: Menotti
authors.forename: Francesco
authors.initials: F
authors.lastname: Felici
authors.forename: Antonello
authors.initials: A
authors.lastname: Damiani
authors.forename: Fortunato
authors.initials: F
authors.lastname: Mangiola
authors.forename: Roberto
authors.initials: R
authors.lastname: Vannicelli
authors.forename: Andrea
authors.initials: A
authors.lastname: Macaluso
mesh_terms: D000328:Adult; D000704:Analysis of Variance; D002245:Carbon Dioxide / Q000378:metabolism; D002607:Charcot-Marie-Tooth Disease / Q000503:physiopathology*; D004734:Energy Metabolism / Q000502:physiology*; D005260:Female; D005684:Gait / Q000502:physiology; D006339:Heart Rate / Q000502:physiology; D006801:Humans; D008297:Male; D008875:Middle Aged; D010101:Oxygen Consumption / Q000502:physiology*; D016138:Walking / Q000502:physiology*; D055815:Young Adult
chemical_list: D002245:Carbon Dioxide