The Dystrophinopathies

Mathula Thangarajh, MD, PhD, FAAN Muscle and Neuromuscular Junction Disorders p. 1619-1639 December 2019, Vol.25, No.6 doi: 10.1212/CON.0000000000000791
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PURPOSE OF REVIEW The dystrophinopathies are among the most common neuromuscular conditions, and they include Duchenne and Becker muscular dystrophies. This article reviews the epidemiology, clinical manifestations, genetic cause, management, and new and emerging therapies for this condition.

RECENT FINDINGS New studies have highlighted how oral corticosteroids have changed the natural history of the disease, prolonging ambulation in boys with Duchenne muscular dystrophy and reducing the risk of developing scoliosis and subsequent surgical correction, improving cardiac health, and increasing long-term survival. Additionally, recent publications have provided insights into how newer and emerging treatment options are becoming more common for this condition. With gene therapy being approved in the United States for the severe form, the dystrophinopathies represent model diseases to understand the personalization of genetic treatment.

SUMMARY Improvement in the standardization of care and the use of oral corticosteroids have increased the life expectancy of patients with dystrophinopathy and changed the natural history of the disease. This article presents a summary of clinical features, diagnostic testing, and new and emerging treatment strategies for the dystrophinopathies.

Address correspondence to Dr Mathula Thangarajh, Department of Neurology, Virginia Commonwealth University, 1101 E Marshall St, 12th Fl, Room 006-A, Box 980599, Richmond, VA 23298-0599, mathula.thangarajh@vcuhealth.org.

RELATIONSHIP DISCLOSURE: Dr Thangarajh has received research/grant support from the American Association of Neuromuscular and Electrodiagnostic Medicine.

UNLABELED USE OF PRODUCTS/INVESTIGATIONAL USE DISCLOSURE: Dr Thangarajh reports no disclosure.

© 2019 American Academy of Neurology.