Duchenne muscular dystrophy diagnostic study of choice

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Editor-In-Chief: C. Michael Gibson, M.S., M.D. [1]; Associate Editor(s)-in-Chief: Fahimeh Shojaei, M.D.

Overview

Genetic analysis is the gold standard test for the diagnosis of Duchenne muscular dystrophy.

Diagnostic Study of Choice

Study of choice

Genetic analysis is the gold standard test for the diagnosis of Duchenne muscular dystrophy.

Investigations:

• Among the patients who present with clinical signs of Duchenne muscular dystrophy, the CK level is the most sensitive test for the diagnosis.
• Among the patients who present with clinical signs of Duchenne muscular dystrophy, the genetic analysis is the most specific test for diagnosis.

Diagnostic results

The following finding on performing genetic analysis is confirmatory for Duchenne muscular dystrophy:

• Different mutations such as deletion, duplication, and etc in dystrophin gene.

Sequence of Diagnostic Studies

The various investigations must be performed in the following order:

• History and physical examination
• CK level
• Genetic analysis
• Muscle biopsy (if genetic analysis in negative)

Name of Diagnostic Criteria

Duchenne muscular dystrophy is primarily diagnosed based on clinical presentation and genetic testing. There are no established criteria for the diagnosis of Duchenne muscular dystrophy.