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Clinical features and diagnosis of Duchenne and Becker muscular dystrophy

Basil T Darras, MD
Section Editors
Marc C Patterson, MD, FRACP
Helen V Firth, DM, FRCP, DCH
Deputy Editor
John F Dashe, MD, PhD


The muscular dystrophies are an inherited group of progressive myopathic disorders resulting from defects in a number of genes required for normal muscle function [1]. Some of the genes responsible for these conditions have been identified. Muscle weakness is the primary symptom.

The genetics, pathogenesis, and clinical characteristics of the Duchenne and Becker muscular dystrophies are reviewed here. The management and treatment of these conditions are discussed separately. (See "Treatment of Duchenne and Becker muscular dystrophy".)

Other muscular dystrophies are reviewed elsewhere. (See "Emery-Dreifuss muscular dystrophy" and "Limb-girdle muscular dystrophy" and "Oculopharyngeal, distal, and congenital muscular dystrophies" and "Myotonic dystrophy: Etiology, clinical features, and diagnosis".)


The Duchenne and Becker muscular dystrophies (as well as a third intermediate form) are caused by mutations of the dystrophin gene and are therefore named dystrophinopathies. Weakness is the principal symptom as muscle fiber degeneration is the primary pathologic process.

The dystrophinopathies are inherited as X-linked recessive traits and have varying clinical characteristics:

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Literature review current through: Nov 2017. | This topic last updated: Jan 21, 2016.
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