{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,8,1]],"date-time":"2026-08-01T11:57:26Z","timestamp":1785585446461,"version":"3.56.0"},"reference-count":50,"publisher":"SAGE Publications","license":[{"start":{"date-parts":[[2026,8,1]],"date-time":"2026-08-01T00:00:00Z","timestamp":1785542400000},"content-version":"vor","delay-in-days":0,"URL":"https:\/\/creativecommons.org\/licenses\/by\/4.0\/"},{"start":{"date-parts":[[2026,8,1]],"date-time":"2026-08-01T00:00:00Z","timestamp":1785542400000},"content-version":"tdm","delay-in-days":0,"URL":"https:\/\/journals.sagepub.com\/page\/policies\/text-and-data-mining-license"}],"content-domain":{"domain":["journals.sagepub.com"],"crossmark-restriction":true},"short-container-title":["Journal of Neuromuscular Diseases"],"abstract":"<jats:sec>\n                    <jats:title>Background<\/jats:title>\n                    <jats:p>LAMA2-related muscular dystrophy (LAMA2-MD) and SELENON-related myopathy (SELENON-RM) are rare congenital muscle diseases characterized by slowly progressive proximal muscle weakness, spinal rigidity and respiratory insufficiency. The LAST STRONG study is a natural history study to identify suitable outcome measures and reach trial readiness for LAMA2-MD and SELENON-RM.<\/jats:p>\n                  <\/jats:sec>\n                  <jats:sec>\n                    <jats:title>Methods<\/jats:title>\n                    <jats:p>Patients had four visits over 1.5-years. Assessments included neurological examination, hand-held dynamometry (HHD), functional assessments (Motor Function Measurements(MFM)-20\/32, graded and timed function tests), accelerometry, and questionnaires on quality of life, activities and participation, pain, and fatigue.<\/jats:p>\n                  <\/jats:sec>\n                  <jats:sec>\n                    <jats:title>Results<\/jats:title>\n                    <jats:p>A total of 27 LAMA2-MD (21 years, range 3-50; 9 males) and 11 SELENON-RM (20 years, range 3-42; 8 males) patients were included. In LAMA2-MD, mean HHD scores for neck extensors, biceps brachii, quadriceps, foot plantar flexors and handgrip strength increased (all p &lt; 0.02). In SELENON-RM, biceps brachii and foot plantar flexors increased (p &lt; 0.01). In LAMA2-MD, functional assessments did not change significantly. In SELENON-RM, MFM-20\/32 total score and domain 1 decreased (p &lt; 0.05), 6-Minute Walk Test (6MWT) decreased (p &lt; 0.01) and 10-Meter Walk Test (10MWT) increased (p &lt; 0.01). Accelerometry showed a significant change in moderate activity in LAMA2-MD (p &lt;0.01), no changes were observed in SELENON-RM.<\/jats:p>\n                  <\/jats:sec>\n                  <jats:sec>\n                    <jats:title>Discussion<\/jats:title>\n                    <jats:p>Over 1.5 years, LAMA2-MD remained mostly stable, while SELENON-RM showed minimal functional decline on select outcome measures. Both cohorts showed HHD increases, likely reflecting age-related development. Most measures did not capture disease progression, however MFM-20\/32, 6MWT and 10MWT showed small significant changes in SELENON-RM, suggesting potential trial endpoints.<\/jats:p>\n                  <\/jats:sec>","DOI":"10.1177\/22143602261465467","type":"journal-article","created":{"date-parts":[[2026,8,1]],"date-time":"2026-08-01T11:12:55Z","timestamp":1785582775000},"update-policy":"https:\/\/doi.org\/10.1177\/sage-journals-update-policy","source":"Crossref","is-referenced-by-count":0,"title":["Clinical and functional outcome measures in LAMA2-related muscular dystrophy and SELENON-related myopathy; a 1.5-year natural history study"],"prefix":"10.1177","author":[{"ORCID":"https:\/\/orcid.org\/0009-0000-8486-6394","authenticated-orcid":false,"given":"Elisabeth C. 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