Congenital myopathies: general and ryr1

The more common symptoms of RYR1-related myopathies (RYR1-RM) include proximal, facial, bulbar, and/or respiratory muscle weakness, hypotonia, scoliosis, and fatigue. In many cases, respiratory muscle weakness results in respiratory insufficiency, which places individuals at risk of early mortality. To gain a better understanding of respiratory function in RYR1-RM, we assessed pulmonary function using forced and slow vital capacities (FVC, SVC) in this population. Thirty-four individuals (> 7 years, ambulatory) with RYR1-RM completed a 6-month natural history study.

Source: Neuromuscular Disorders - September 6, 2018 Category: Neurology Authors: I. Chrismer, J. Witherspoon, B. Drinkard, M. Stockman, M. Shelton, A. Kuo, C. Allen, J. Todd, M. Jain, M. Meilleur Source Type: research