title: Relationship between physical performance and quality of life in Charcot-Marie-Tooth disease: a pilot study.
abstract: 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.
authors.affiliation: Exercise, Health and Performance Faculty Research Group, Faculty of Health Sciences, The University of Sydney, Lidcombe, Australia.
authors.forename: Daniel
authors.initials: D
authors.lastname: Roberts-Clarke
authors.affiliation: Exercise, Health and Performance Faculty Research Group, Faculty of Health Sciences, The University of Sydney, Lidcombe, Australia.
authors.forename: Che
authors.initials: C
authors.lastname: Fornusek
authors.affiliation: Exercise, Health and Performance Faculty Research Group, Faculty of Health Sciences, The University of Sydney, Lidcombe, Australia.
authors.forename: Nidhi
authors.initials: N
authors.lastname: Saigal
authors.affiliation: Exercise, Health and Performance Faculty Research Group, Faculty of Health Sciences, The University of Sydney, Lidcombe, Australia.
authors.forename: Mark
authors.initials: M
authors.lastname: Halaki
authors.affiliation: Arthritis and Musculoskeletal Research Group, Faculty of Health Sciences, The University of Sydney, Lidcombe, Australia.|Paediatric Gait Analysis Service of New South Wales, Sydney Children's Hospitals Network (Randwick and Westmead), Sydney, Australia.
authors.forename: Joshua
authors.initials: J
authors.lastname: Burns
authors.affiliation: Concord Clinical School, ANZAC Institute, Concord Repatriation Hospital, Concord, Australia.
authors.forename: Garth
authors.initials: G
authors.lastname: Nicholson
authors.affiliation: Exercise, Health and Performance Faculty Research Group, Faculty of Health Sciences, The University of Sydney, Lidcombe, Australia.
authors.forename: Maria
authors.initials: M
authors.lastname: Fiatarone Singh
authors.affiliation: Exercise, Health and Performance Faculty Research Group, Faculty of Health Sciences, The University of Sydney, Lidcombe, Australia.
authors.forename: Daniel
authors.initials: D
authors.lastname: Hackett
mesh_terms: D000058:Accidental Falls; D000328:Adult; D002607:Charcot-Marie-Tooth Disease / Q000503:physiopathology* / Q000523:psychology*; D015444:Exercise / Q000502:physiology*; D005260:Female; D006801:Humans; D008297:Male; D008875:Middle Aged; D053580:Muscle Strength / Q000502:physiology; D010865:Pilot Projects; D004856:Postural Balance / Q000502:physiology; D011788:Quality of Life / Q000523:psychology*
keywords: exercise; functionality; hereditary motor and sensory neuropathy; muscular power; resistance training