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

  • Sonia Messina
  • Gian Luca Vita
Review Article

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

Duchenne muscular dystrophy Multidisciplinary care Exon skipping Ataluren 

Notes

Acknowledgements

The authors would like to thank Melanie Gatt (PhD) for the medical writing assistance on behalf of Springer Healthcare Communications.

Funding information

Medical writing assistance was funded by PTC Therapeutics, Rome, Italy.

Compliance with ethical standards

Conflict of interest

The authors declare that they have no conflict of interest.

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Copyright information

© Springer-Verlag Italia S.r.l., part of Springer Nature 2018

Authors and Affiliations

  1. 1.Department of Clinical and Experimental MedicineUniversity of MessinaMessinaItaly
  2. 2.Nemo Sud Clinical CentreUniversity Hospital “G. Martino”MessinaItaly
  3. 3.Unit of Neurology and Neuromuscular DiseasesAOU Policlinico “G. Martino”MessinaItaly

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