Duchenne muscular dystrophy diagnostic study of choice

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Duchenne muscular dystrophy Microchapters

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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:

Diagnostic results

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

Sequence of Diagnostic Studies

The various investigations must be performed in the following order:

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.

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