FP.40 A cross-sectional study on LAMA2-related muscular dystrophy and SELENON-related myopathy, the first results of the LAST STRONG Study

LAMA2-related muscular dystrophy (LAMA2-MD) and SELENON(SEPN1)-related myopathy (SELENON-RM) are inherited myopathies characterized by slowly progressive proximal muscle weakness, spinal rigidity and respiratory insufficiency. Here we present baseline features of patients with LAMA2-MD and SELENON-RM in a 1,5-year natural history study to select outcome measures and reach trial readiness; the LAST STRONG study. The protocol consisted of neurological examinations, functional measurements, questionnaires, muscle ultrasound, pulmonary function tests, and Dual Energy Xray absorptiometry (DEXA)-scan.

Source: Neuromuscular Disorders - October 1, 2022 Category: Neurology Authors: K. Bouman, J. Groothuis, J. Doorduin, N. van Alfen, F. Udink ten Cate, F. van den Heuvel, R. Nijveldt, A. Dittrich, J. Draaisma, M. Janssen, B. van Engelen, C. Erasmus, N. Voermans Source Type: research