Modalités de l’utilisation de l’alpha-glucosidase recombinante humaine (Myosine TM) et du suivi des patients adultes
Annane D, Caillaud C, Laforêt P, Maire I, Nicolino M, Orlikovski D.
Recommandations du Comité d’Evaluation du traitement de la maladie de Pompe 2008.
In adult Pompe disease, it is recommended to assess patients by MFM initially and every 6 months or annually by the reference center for the patient in the monitoring of the Myosine protocol. (in French).
Keywords : Pompe disease, Myosyme, recommendations, protocol, clinical trials
Articles dans les revues scientifiques
Reliability and validity of Trunk Control Test in patients with neuromuscular diseases
Parlak Demir Y, Yildirim SA. Physiother Theory Pract. 2015. 31(1):39-44. Determination of the reliability and validity of the Trunk Control Test (TCT) in people with adult neuromuscular diseases.The TCT was found to be correlated with MFM (r=0.57).PubMed linkKeywords:...
Instruments for the evaluation of motor abilities for children with severe multiple disabilities: A systematic review of the literature
Mensch SM, Rameckers EA, Echteld MA, Evenhuis HM. Res Dev Disabil. 2015. 47:185-98. Based on a systematic review, psychometric characteristics of currently available instruments on motor abilities of children with disabilities were evaluated, with the aim to identify...
Frequency and Phenotype of Myotubular Myopathy Amongst Danish Patients with Congenital Myopathy Older than 5 Years
Werlauff U, Petri, H, Witting N, Vissing J. Journal of Neuromuscular Diseases. 2015. 2(2):167-174. Eighty-four patients with a centronuclear myopathy (CNM) older than five years were included in the study and assessed by muscle tests, functional tests (including MFM),...
Longitudinal 2-point dixon muscle magnetic resonance imaging in becker muscular dystrophy
Bonati U, Schmid M, Hafner P, Haas T, Bieri O, Gloor M, Fischmann A, Fischer D. Muscle Nerve. 2015. 51(6):918-21. The aim of this study was to quantify the amount of fatty degeneration in the thigh and measure longitudinally the annual skeletal muscle changes in...
Muscle Quantitative MR Imaging and Clustering Analysis in Patients with Facioscapulohumeral Muscular Dystrophy Type 1
Lareau-Trudel E, Le Troter A, Ghattas B, Pouget J, Attarian S, Bendahan D, Salort-Campana E. PLoS One. 2015. 16;10(7):e0132717. Muscle MRI was used to assess muscular fatty infiltration in the lower limbs of 35 FSHD1 patients and 22 healthy volunteers. MFM was used...
Results of a two-year pilot study of clinical outcome measures in collagen VI- and laminin alpha2-related congenital muscular dystrophies
Meilleur KG, Jain MS, Hynan LS, Shieh CY, Kim E, Waite M, McGuire M, Fiorini C, Glanzman AM, Main M, Rose K, Duong T, Bendixen R, Linton MM, Arveson IC, Nichols C, Yang K, Fischbeck KH, Wagner KR, North K, Mankodi A, Grunseich C, Hartnett EJ, Smith M, Donkervoort S,...