Natural history of LGMD2A for delineating outcome measures in clinical trials
Richard I, Hogrel JY, Stockholm D, Payan CA, Fougerousse F; Calpainopathy Study Group, Eymard B, Mignard C, Lopez de Munain A, Fardeau M, Urtizberea JA.
Ann Clin Transl Neurol. 2016. 4;3(4):248-65.
Observational study of clinical manifestations and disease progression in 85 Limb-girdle muscular dystophy 2A (LGMD2A, OMIM) patients for up to 4 years.
In this population, MFM-D1 was the most impaired (18.6 ± 19.7%), following by MFM-D2 (73.0 ± 18.6%), and MFM-D3 (91.4 ± 12.5%). Besides, MFM score was highly correlated with the “manual muscle testing” (MMT) score and the “quantitative muscle testing” (QMT) composite score. The relationship between MFM and MMT was linear while the relationship between MFM and QMT was rather curvilinear, indicating that strength is lost before function, probably because of compensatory mechanisms exerted by other muscle groups.
Articles dans les revues scientifiques
Improvements in motor tasks through the use of smartphone technology for individuals with Duchenne muscular dystrophy
Capelini CM, da Silva TD, Tonks J, Watson S, Alvarez MPB, de Menezes LDC, Favero FM, Caromano FA, Massetti T, de Mello Monteiro CB Neuropsychiatr Dis Treat. 2017. 18(13):2209-2217. The main aim of the study was to verify whether individuals with Duchenne muscular...
Long-term follow-up of MRI changes in thigh muscles of patients with Facioscapulohumeral dystrophy: A quantitative study
Fatehi F, Salort-Campana E, Le Troter A, Lareau-Trudel E, Bydder M, Fouré A, Guye M, Bendahan D, Attarian S PLoS One. 2017 Aug 25;12(8):e0183825. The main aim of the study was to investigate longitudinally the time-dependent changes occurring in thigh muscles of...
Patients with Duchenne and Becker muscular dystrophies are not more asymmetrical than healthy controls on timed performance of upper limb tasks
Artilheiro MC, Sá CSC, Fávero FM, Caromano FA, Voos MC. Braz J Med Biol Res. 2017. 50(8): e6031. This study aimed to investigate possible asymmetries and relationships between performance of dominant and non-dominant upper limbs in patients with Duchenne and Becker...
Reliability and validity analyses of the North Star Ambulatory Assessment in Brazilian Portuguese
Okama LO, Zampieri LM, Ramos CL, Toledo FO, Alves CRJ, Mattiello-Sverzut AC, Mayhew A, Sobreira CFR Neuromuscul Disord. 2017. 27(8):723-729. Validation study of the cross-cultural adaptation to the Portuguese of the North Star Ambulatory Assessment.A positive...
Hyperleptinemia in children with autosomal recessive spinal muscular atrophy type I-III
Kölbel H, Hauffa BP, Wudy SA, Bouikidis A, Della Marina A, Schara U PLoS One. 2017. 9;12(3):e0173144. Study of prevalence of hyperleptinemia in a spinal muscular atrophy (SMA) population.Hyperleptinemia is highly prevalent in underweight children with SMA and is...
Electrical impedance myography (EIM) in individuals with COL6 and LAMA2 congenital muscular dystrophy: a cross-sectional and two-year analysis
Nichols C, Jain MS, Meilleur KG, Wu T, Collins J, Waite MR, Dastgir J, Salman A, Donkervoort S, Duong T, Keller K, Leach ME, Lott DJ, McGuire MN, Nelson L, Rutkowski A, Vuillerot C, Bönnemann CG, Lehky TJ. Muscle Nerve. 2018. 57(1):54-60. The main objective of the...