Pulmonary function and clinical correlation in DMD

Abstract

Duchenne muscular dystrophy [DMD] is the most common inherited myopathy and is caused by a defect in the dystrophin gene on the X chromosome causing production of a dysfunctional dystrophin protein. Over the last decade there have been advances in disease modifying pharmacotherapy beyond the widely used strategy of corticosteroids into products to impact both dystrophin production itself and also some of the downstream effects of absent of dysfunctional dystrophin. This manuscript will explore the respiratory progression of DMD including some proposed functional and clinical correlations and the overlap between loss of function in different muscle groups. Options for symptomatic treatment and support are presented and direction as to when the different options should be considered is provided. The manuscript will also review the currently available and late phase developmental pharmacotherapies for DMD.

Keywords: Duchenne muscular dystrophy; Dystrophin; Pharmacological therapies; Respiratory failure.