Clinical management of Duchenne muscular dystrophy: the state of the art

Abstract

Introduction: Duchenne muscular dystrophy (DMD) is a devastating, progressive neuromuscular disorder for which there is no cure. As the dystrophin gene is located on the X chromosome, DMD occurs predominately in males. DMD is caused by a lack of functional dystrophin protein resulting from mutations in the 2.2-Mb DMD gene, whichdisrupts the reading frame. Care considerations for DMD advocate a coordinated, multidisciplinary approach to the management of DMD in order to optimize management of the primary manifestations of DMD as well as any secondary complications that may arise.

Methods: This review provides an overview of the multidisciplinary clinical management of DMD with regard to the respiratory, cardiology, orthopedic, and nutritional needs of patients with DMD. Recent advances in novel disease-modifying treatments for DMD are also discussed with specific reference to exon skipping and suppression of premature stop codons as promising genetic therapies.

Results: The combination of multidisciplinary clinical management alongside novel gene therapiesoffers physicians a powerful armamentarium for the treatment of DMD.

Keywords: Ataluren; Duchenne muscular dystrophy; Exon skipping; Multidisciplinary care.