Assessment of respiratory muscles and motor function in children with SMA treated by nusinersen
Respiratory muscles performance and lung function were evaluated in children with SMA 1 and 2 after six injections of nusinersen (M14). Treated subjects were assessed with MFM and HINE-2 at baseline and M14.
A significant improvement in MFM and HINE-2 was observed at M14 as compared with baseline.
Keywords: lung function; motor function; nusinersen; respiratory muscles; spinal muscular atrophy.
Articles in scientific journal
Non-Ambulant Duchenne Patients Theoretically Treatable by Exon 53 Skipping have Severe Phenotype
Servais L, Montus M, Guiner C, Ben Yaou R, Annoussamy M, Moraux A, Hogrel JY, Seferian AM, Zehrouni K, Le Moing AG, Gidaro T, Vanhulle C, Laugel V,Butoianu N, Cuisset JM, Sabouraud P, Cances C, Klein A, Leturcq F, Moullier P, Voit T. Journal of Neuromuscular Diseases....
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...