P.1.3 Postural changes in forced vital capacity characterize congenital muscular dystrophy subtypes

• Published in: Neuromuscular disorders : NMD 2013-10, Vol.23 (9), p.742-742
• Main Authors: Meilleur, K.G, Linton, M.M, Rutkowski, A, Leach, M.E, Jain, M, Jolley, C, Barton, M, McGraw, P, Collins, J, Donkervoort, S, Dastgir, J, Fontana, J.R, Sawnani, H, Bonnemann, C.G
• Format: Article
• Language: English
• Subjects: Neurology
• ISSN: 0960-8966; 1873-2364
• DOI: 10.1016/j.nmd.2013.06.387

Congenital muscular dystrophy (CMD) is a group of heterogeneous disorders with progressive respiratory insufficiency. Recommendations include screening for respiratory insufficiency by spirometry and obtaining a polysomnogram if the vital capacity (VC) is 20% decline between sitting and supine VC measures. Reports of pulmonary function, especially change in sitting to supine forced VC (FVC) % predicted, and its association with CMD subtypes and ambulatory status are limited. Therefore, in 49 individuals with CMD [Collagen VI-related myopathy (CVI-RM; n = 30) and LAMA2-related muscular dystrophy (LAMA2-MD; n = 19], we compared sitting with supine FVC % predicted, ambulatory and non-invasive mechanical ventilation (NIV) status. The CVI-RM cohort comprised ages 4–61 years with 18 (60%) males and 22 (73%) children (⩽18 years). The LAMA2-MD cohort comprised ages 5–54 years with 7 (37%) males and 18 (95%) children. We found a significant decrease in FVC % predicted from sitting to supine in subjects with CVI-RM only ( p < 0.0001). 22 (73%) subjects with CVI-RM were ambulatory, and 5 (42%) of the CVI-RM subjects with FVC