Toward an objective measure of functional disability in dysferlinopathy
Woudt L, Di Capua GA, Krahn M, Castiglioni C, Hughes R, Campero M, Trangulao A, González-Hormazábal P, Godoy-Herrera R, Lévy N, Urtizberea JA, Jara L, Bevilacqua JA.
Muscle Nerve. 2016. 53(1):49-57.
The aim of the study was to assess, clinically and functionally, a cohort of patients with dysferlinopathy, using validated scales.
Thirty-one patients with dysferlinopathy were assessed using the MFM, Modified Rankin Scale (MRS), Muscle Research Council (MRC) scale, serum creatine kinase (CK) assessment, baseline spirometry data, and echocardiographic and electrophysiologic studies.
MFM and MRC scores showed a significant negative correlation with disease duration and inverse correlation with MRS, but not with onset age, clinical phenotype, or CK levels.
The results suggest that MFM is a reliable outcome measure that may be useful for longitudinal follow-up in dysferlinopathy.
Key words: dysferlinopathy, DYSF, Motor Function Measure, MRC score, recurrent mutations
Articles dans les revues scientifiques
Protocol for a phase II, monocentre, double-blind, placebo-controlled, cross-over trial to assess efficacy of pyridostigmine in patients with spinal muscular atrophy types 2-4 (SPACE trial)
Stam M, Wadman RI, Wijngaarde CA, Bartels B, Asselman FL, Otto LAM, Goedee HS, Habets LE, de Groot JF, Schoenmakers MAGC, Cuppen I, van den Berg LH, van der Pol WL. BMJ Open. 2018. 30;8(7):e019932. Protocol of the "SPACE" in wich MFM is used as an outcome measure....
Prospective and longitudinal natural history study of patients with Type 2 and 3 spinal muscular atrophy: Baseline data NatHis-SMA study
Chabanon A, Seferian AM, Daron A, Péréon Y, Cances C, Vuillerot C, De Waele L, Cuisset JM, Laugel V, Schara U, Gidaro T, Gilabert S, Hogrel JY, Baudin PY, Carlier P, Fournier E, Lowes LP, Hellbach N, Seabrook T, Toledano E, Annoussamy M, Servais L; NatHis-SMA study...
Mathematical Disease Progression Modeling in Type 2/3 Spinal Muscular Atrophy
Jacqmin P, Gieschke R, Delor I, Snoeck E, Vianna E, Vuillerot C, Sanwald Ducray P.Muscle Nerve. 2018. 58(4):528-535. Presentation of a mathematical model that empirically describes the development and deterioration of muscle function assessed by the 3 domains of MFM...
Is Going Beyond Rasch Analysis Necessary to Assess the Construct Validity of a Motor Function Scale?
Guillot T, Roche S, Rippert P, Hamroun D, Iwaz J, Ecochard R, Vuillerot C; the MFM Study Group. Arch Phys Med Rehabil. 2018. 99(9), 1776-1782.e9. Comparison of the fit quality of the confirmatory factor analysis (CFA) and the Rasch models on MFM item scores in...
Functional outcome measures for infantile Charcot-Marie-Tooth disease: a systematic review
Mandarakas MR, Rose KJ, Sanmaneechai O, Menezes MP, Refshauge KM, Burns JJ Peripher Nerv Syst. 2018. 23(2), 99-107. Systematic review of the outcome measures that can be used in children with Charcot-Marie-Tooth (CMT) aged 0 to 3 years.Properties of MFM-20 in this...
Timed function tests, motor function measure, and quantitative thigh muscle MRI in ambulant children with Duchenne muscular dystrophy: A cross-sectional analysis
Schmidt S, Hafner P, Klein A, Rubino-Nacht D, Gocheva V, Schroeder J, Naduvilekoot Devasia A, Zuesli S, Bernert G, Laugel V, Bloetzer C, Steinlin M, Capone A, Gloor M, Tobler P, Haas T, Bieri O, Zumbrunn T, Fischer D, Bonati U Neuromuscul Disord. 2018....