EP380: Sequencing of entire 2.2 MB DMD gene facilitates diagnostic testing and aids selection of patients for therapeutic intervention

Abstract

Duchenne Muscular Dystrophy (DMD) is an X-linked inherited neuromuscular disorder caused by pathogenic variants in the DMD gene. The variant spectrum of DMD is unique including 60% intragenic deletions, 5% duplications and 35% sequence variants. The clinical presentation of DMD includes progressive weakness of the skeletal muscles that leads to loss of ambulation by age 10-12 years. Affected individuals also have significantly elevated creatine kinase (CK) levels in blood. Present mean age of diagnosis of DMD is about 5 years; however, it can be diagnosed as early as immediately after birth through newborn screening (NBS) by measuring serum CK levels followed by confirmatory molecular testing.