Abstract

Duchenne muscular dystrophy (DMD) is a progressive neuromuscular disease inherited in an X-linked recessive pattern and characterized by progressive deterioration of skeletal muscle, decreased motor ability, gait disturbance, development of respiratory failure, and cardiomyopathy. DMD is caused by pathogenic variants in the gene encoding dystrophin, resulting in either no synthesis of dystrophin protein, or the production of a dysfunctional protein. Physiotherapy, treatment with glucocorticosteroids, and multidisciplinary rehabilitation have been the mainstays of the classical treatment for Duchenne muscular dystrophy until now. The primary gene therapy treatment directions in treating DMD are restoration of dystrophin through nonsense mutation suppression therapy, exon-skipping therapy with antisense oligonucleotides, and dystrophin restoration through (viral) vectors.

This article aims to provide an overview of Duchenne muscular dystrophy, its clinical presentation, diagnosis, classical treatment, monitoring, and novel gene therapy possibilities. It focuses on the three most important aforementioned gene therapies and also presents a case description of a patient treated using the read-through therapy method.