I.03 Novel mechanisms and new therapies for congenital myopathies

Abstract

Congenital myopathies are a clinically and genetically heterogeneous group of early onset genetic muscle diseases. They are united by the presence of characteristic structural changes observed on muscle biopsy (such as cores, nemaline rods, and central nuclei), and by a relatively consistent clinical course of muscle hypotrophy, diffuse weakness, and a typically slowly progressive clinical course. Important advances have occurred across the field, ranging from improved diagnostics, deepened understanding of disease pathomechanisms, and the emergence of the first potential therapies. In this talk, I will present the most recent findings in congenital myopathy research, highlighting advances that underscore the exciting progress that has enabled a broader appreciation of the genetics, molecular processes, and treatments for this group of severe and important neuromuscular conditions.