Respiratory function in LAMA2-related muscular dystrophy and SELENON-related congenital myopathy, a 1.5-year natural history study

CONCLUSION: The majority of LAMA2-MD and all SELENON-RM patients had respiratory impairment. SELENON-RM patients showed lower respiratory function which was progressive, more prevalent mechanical ventilation, and more severe diaphragm atrophy and dysfunction than LAMA2-MD patients. Spirometry (FVC%, dVC) and respiratory muscle strength tests (SNIP) are useful in clinical care and as outcome measure in clinical trials.CLINICAL TRIAL NUMBER: NCT04478981.PMID:38008001 | DOI:10.1016/j.ejpn.2023.11.005

Source: European Journal of Paediatric Neurology - November 26, 2023 Category: Neurology Authors: Karlijn Bouman Jeroen L M van Doorn Jan T Groothuis Peter J Wijkstra Baziel G M van Engelen Corrie E Erasmus Jonne Doorduin Nicol C Voermans Source Type: research