Adult MTM1-related myopathy carriers: Classification based on deep phenotyping
Cocanougher BT, Flynn L, Yun P, Jain M, Waite M, Vasavada R, Wittenbach JD, de Chastonay S, Chhibber S, Innes AM, MacLaren L, Mozaffar T, Arai AE, Donkervoort S, Bönnemann CG, Foley AR.
Neurology. 2019. 93 (16), e1535-e1542.
Results of a cohort study performed at the NIH Clinical Center illustrating the phenotypic range of MTM1-related myopathy carriers in adulthood and recommends a phenotypic classification. This classification, defined by ambulatory status and muscle weakness, is supported by muscle MRI, pulmonary function tests, and MFM-32 scale composite score findings.
Articles in scientific journals
Assessment of the validity and reliability of the 32-item Motor Function Measure in individuals with Type 2 or non-ambulant Type 3 spinal muscular atrophy
Trundell D, Le Scouiller S, Le Goff L, Gorni K, Vuillerot C. PLoS One. 2020. 18;15(9):e0238786. This study sought to investigate the reliability, validity, and ability to detect change of MFM32 in subjects with Type 2 and non-ambulant Type 3 Spinal Muscular Atrophy...
Assessment of respiratory muscles and motor function in children with SMA treated by nusinersen
Gómez-García de la Banda M, Amaddeo A, Khirani S, Pruvost S, Barnerias C, Dabaj I, Bénézit A, Durigneux J, Carlier RY, Desguerre I, Quijano-Roy S, Fauroux B. Pediatr Pulmonol. 2021. 56(1):299-306. Respiratory muscles performance and lung function were evaluated in...
Association Between Health-Related Quality of Life and Motor Function in Ambulant and Nonambulant Duchenne Muscular Dystrophy Patients
Gocheva V, Schmidt S, Orsini AL, Hafner P, Schaedelin S, Rueedi N, Weber P, Fischer D.J Child Neurol. 2019. 34(14):873-885.Cross-sectional study assessing health-related quality of life (HRQOL) in ambulant and nonambulant patients with Duchenne muscular dystrophy, and...
Validity and Reliability of the 32-Item Motor Function Measure in 2- to 5-Year-Olds with Neuromuscular Disorders and 2- to 25-Year-Olds with Spinal Muscular Atrophy
Trundell D, Le Scouiller S, Gorni K, Seabrook T, Vuillerot C, SMA MFM Study Group.Neurol Ther. 2020. 9(2):575-584. Investigation of the validity and reliability of the MFM32 in individuals with neuromuscular disorders (NMD), including spinal muscular atrophy (SMA),...
Health-related quality of life, self-reported impairments and activities of daily living in relation to muscle function in post-polio syndrome
Gocheva V, Hafner P, Orsini AL, Schmidt S, Schaedelin S, Rueedi N, Rubino-Nacht D, Weber P, Fischer D.J Patient Rep Outcomes. 2020. 16;4(1):59. Investigation of health-related quality of life (HRQOL), self-reported impairments and activities of daily living and...
Effects of nusinersen after one year of treatment in 123 children with SMA type 1 or 2: a French real-life observational study
Audic F, de la Banda MGG, Bernoux D, Ramirez-Garcia P, Durigneux J, Barnerias C, Isapof A, Cuisset JM, Cances C, Richelme C, Vuillerot C, Laugel V, Ropars J, Altuzarra C, Espil-Taris C, Walther-Louvier U, Sabouraud P, Chouchane M, Vanhulle C, Trommsdorff V, Pervillé...