title: Natural history of CMT1A including QoL: a 2-year prospective study.
abstract: The Italian CMT study group performed a multicentre, multidimensional, longitudinal 2-year follow-up study using validated measurements of neurological impairment, disability and quality of life. The aim of the study was to evaluate the natural history of clinical features, disability and QoL in patients with CMT1A. On clinical examination, CMT1A patients showed a significant reduction in muscle strength and sensory function during the 2-year follow-up period. However, there was no worsening of QoL or disability, nor was depression observed. The discrepancy between the evolution of clinical features and the evolution of QoL and disability may be due to the development of compensatory strategies that help patients cope with the slow progression of the disease. Our observations provide information which may be useful when designing clinical trials in CMT.
authors.affiliation: Institute of Neurology, Università Cattolica del Sacro Cuore, Largo Francesco Vito 1, Rome, Italy. lpadua@rm.unicatt.it
authors.forename: L
authors.initials: L
authors.lastname: Padua
authors.forename: D
authors.initials: D
authors.lastname: Pareyson
authors.forename: I
authors.initials: I
authors.lastname: Aprile
authors.forename: T
authors.initials: T
authors.lastname: Cavallaro
authors.forename: A
authors.initials: A
authors.lastname: Quattrone
authors.forename: N
authors.initials: N
authors.lastname: Rizzuto
authors.forename: G
authors.initials: G
authors.lastname: Vita
authors.forename: P
authors.initials: P
authors.lastname: Tonali
authors.forename: A
authors.initials: A
authors.lastname: Schenone
mesh_terms: D000293:Adolescent; D000328:Adult; D000368:Aged; D000369:Aged, 80 and over; D002607:Charcot-Marie-Tooth Disease / Q000503:physiopathology* / Q000523:psychology*; D002648:Child; D004185:Disability Evaluation; D018450:Disease Progression; D005260:Female; D005500:Follow-Up Studies; D006801:Humans; D008297:Male; D008875:Middle Aged; D011446:Prospective Studies; D011788:Quality of Life; D015203:Reproducibility of Results; D011795:Surveys and Questionnaires / Q000592:standards*