Longitudinal Pulmonary Function Testing Outcome Measures in Duchenne Muscular Dystrophy: Long-term Natural History with and without Glucocorticoids

Duchenne muscular dystrophy (DMD) is caused by defects in the gene for dystrophin, a protein that stabilizes muscle cell membranes, leading to progressive loss of muscle fibers with replacement by fat and connective tissue [1]. Progressive loss of strength in accessory and active breathing muscles leads to reduced respiratory volumes and airway forces consistent with restrictive pulmonary disease. Respiratory decline in DMD, as measured by spirometry, usually begins late in the first decade. Progression leads to impaired respiratory secretion clearance, nocturnal and daytime hypoventilation, life-threatening pulmonary infections due to ineffective cough, and finally respiratory failure during the second or third decade of life.

Source: Neuromuscular Disorders - August 28, 2018 Category: Neurology Authors: Craig M. McDonald, Heather Gordish-Dressman, Erik K. Henricson, Tina Duong, Nanette C. Joyce, Sanjay Jhawar, Mika Leinonen, Fengming Hsu, Anne M. Connolly, Avital Cnaan, Richard T. Abresch, CINRG investigators Tags: Research Article Source Type: research