The Dystrophinopathies

PURPOSE OF REVIEW This article reviews the history, epidemiology, genetics, clinical presentation, multidisciplinary management, and established and emerging therapies for the dystrophinopathies.

RECENT FINDINGS The multidisciplinary care of individuals with dystrophinopathies continues to improve in many ways, including early surveillance and implementation of respiratory, cardiac, and orthopedic health management. The era of genetic therapeutics has altered the treatment landscape in neuromuscular disorders, including the dystrophinopathies.

SUMMARY The dystrophinopathies are a spectrum of X-linked genetic disorders characterized by childhood-onset progressive weakness and variable cardiac and cognitive involvement. Corticosteroids are the mainstay of therapy to slow disease progression. Additional strategies for disease amelioration and dystrophin restoration, including gene replacement therapy, are under investigation.

Address correspondence to Dr Bo Hoon Lee, 601 Elmwood Ave, Box 631, Rochester, NY 14642, [email protected].

RELATIONSHIP DISCLOSURE: Dr Lee has received personal compensation in the range of $500 to $4,999 for serving on a scientific advisory or data safety monitoring board for AMO Pharma and F. Hoffmann-La Roche AG. The institution of Dr Lee has received research support from AMO Pharma, Novartis, Sanofi, and Sarepta Therapeutics.

UNLABELED USE OF PRODUCTS/INVESTIGATIONAL USE DISCLOSURE: Dr Lee discusses the unlabeled/investigational use of allogenic cell therapy, ataluren, follistatin, gene therapy, pamrevlumab, and vamorolone for the treatment of Duchenne muscular dystrophy.