A 5-year natural history study in LAMA2-related muscular dystrophy and SELENON-related myopathy: The Extended LAST STRONG study

This paper describes the design of a single-center, prospective, observational study that will examine the long-term natural history of 35–40 patients with genetically confirmed SELENON-related myopathy or LAMA2-related muscular dystrophy. Subjects aged 5 years or older will undergo two rounds of lung function testing (FEV1, FVC, VC, PCF) and respiratory muscle strength testing (MEP, MIP, SNIP), which will be conducted using a Vitalograph Pneumotrac spirometer.