title: Natural history of Charcot-Marie-Tooth 2: 2-year follow-up of muscle strength, walking ability and quality of life.
abstract: Charcot-Marie-Tooth (CMT) disease is the most frequent inherited neuropathy, no therapies are available at the moment but clinical trials are ongoing. For that reason it is very important to know the natural history of the disease. We report the results of the natural history of clinical features and quality of life (QoL) in patients with CMT2. Twenty patients were enrolled. At recruitment and at follow-up (2 years), all patients underwent neurological evaluation, QoL and disability assessments. The study-end evaluation took place 20-28 months after the baseline evaluation. During the 2-year follow-up period, CMT2 patients showed a mild reduction of strength of distal muscles of upper limbs and proximal muscles of lower limbs, a worsening sensory function and a mild increase in walking disability. However, there was no relevant worsening of QoL, except for a mild deterioration of one mental health domain.
authors.affiliation: Institute of Neurology, Università Cattolica del Sacro Cuore, Rome, Italy. lpadua@rm.unicatt.it
authors.forename: Luca
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: D A
authors.initials: DA
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; D002607:Charcot-Marie-Tooth Disease / Q000503:physiopathology* / Q000523:psychology*; D004185:Disability Evaluation; D018450:Disease Progression; D005260:Female; D005500:Follow-Up Studies; D006801:Humans; D008297:Male; D008875:Middle Aged; D053580:Muscle Strength; D018482:Muscle, Skeletal / Q000503:physiopathology; D009460:Neurologic Examination; D011788:Quality of Life; D016138:Walking; D055815:Young Adult