Duchenne Muscular Dystrophy

Diagnostic suspicion

• Clinical suspicion of DMD
• CK level determination
• Normal values → DMD is ruled out
• High levels* → proceed to diagnostic confirmation

Diagnostic confirmation

• Deletion/duplication detected (MLPA):
• • Mutation detected (deletion/duplication) → DMD confirmed (Yes)
• • No mutation → Gene sequencing***
• Gene sequencing***:
• • Mutation detected → DMD confirmed (Yes)
• • No mutation → Muscle biopsy
• Muscle biopsy:
• • Confirms → DMD confirmed (Yes)
• • Negative → Alternative diagnoses to be considered (NO)