Criteria
One of the following must be found for a diagnosis of DMD:[10]
Genetic analysis:
Dystrophin gene deletion or duplication identified by multiplex ligation-dependent probe amplification or comparative genomic hybridization array.
If the above is negative, other mutation associated with DMD (e.g., point mutation, small deletion, small duplication or insertion) identified by sequencing.
Muscle biopsy: shows no dystrophin.[28]
If muscle biopsy demonstrates a diminished quantity/quality of dystrophin, the diagnosis is likely Becker muscular dystrophy.
Genetic testing with or without muscle biopsy is used for the initial diagnosis of most other muscular dystrophies, and of spinal muscular atrophy.[1][3]
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