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

• Published in: Neurological sciences Vol. 39; no. 11; pp. 1837 - 1845
• Main Authors: Messina, Sonia, Vita, Gian Luca
• Format: Journal Article
• Language: English
• Published: Milan Springer Milan 01-11-2018; Springer Nature B.V
• Subjects: Medicine; Medicine & Public Health; Muscular dystrophy; Neurology; Neuroradiology; Neurosciences; Neurosurgery; Psychiatry; Review Article; X chromosomes; Ataluren; Duchenne muscular dystrophy; Exon skipping; Multidisciplinary care
• ISSN: 1590-1874; 1590-3478
• DOI: 10.1007/s10072-018-3555-3

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.