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
Myotonic dystrophy type 1: frequency of ophthalmologic findings
Ikeda KS, Iwabe-Marchese C, França MC Jr, Nucci A, Carvalho KM. Arq Neuropsiquiatr. 2016. 74(3):183-8. The purpose of the study was to evaluate the frequency of ophthalmologic abnormalities in a cohort of myotonic dystrophy type 1 (DM1) patients and to correlate them...
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...
Computer task performance by subjects with Duchenne muscular dystrophy
Malheiros SR, da Silva TD, Favero FM, de Abreu LC, Fregni F, Ribeiro DC, de Mello Monteiro CB. Neuropsychiatr Dis Treat. 2015. 30;12:41-8. The study aimed at verifying the quantitative performance of people with DMD in undertaking a computer task.An improved...
Diagnostic et histoire naturelle de la dystrophie musculaire de Duchenne
Desguerre I, Laugel V. Arch Pediatr. 2015. 22(12 Suppl 1):12S24-30. Duchenne myopathy is today the most frequently encountered progressive muscular dystrophy in children, with an inexorable, progressive development to death in the third decade. Improvement in survival...
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:...