Duchenne Muscular Dystrophy Diagnosis

How is Duchenne Muscular Dystrophy Diagnosed?

Boys with Duchenne muscular dystrophy need an early, accurate diagnosis because the disease can progress rapidly. An early diagnosis translates to earlier proper management of the disease.

Our Stanford neuromuscular doctors have decades of experience diagnosing Duchenne muscular dystrophy.

We combine our clinical experience with a full complement of diagnostic tests, including:

• Complete medical history and physical examination, including family history of Duchenne muscular dystrophy or any neuromuscular disease.
• Electrodiagnostic tests (EMG/NCS): Our neuromuscular neurologists assess muscle and nerve function using a machine that measures electrical signals in individual muscles and nerves. Learn more about electromyography.
• Laboratory tests: Tests may be performed to check muscle enzymes, as well as other clues to diagnosis.
• Biopsy: Muscle and nerve cells are examined under a microscope.
• Genetic testing: Examines individual genes to look for abnormalities known to cause Duchenne muscular dystrophy.
• Muscle biopsy: Examination of a small sample of muscle tissue to look for abnormalities.
• Imaging studies: Non-invasive testing, including CT scan and magnetic resonance imaging (MRI), to look for abnormalities in the heart and other organs and to detect scoliosis (abnormal curvature of the spine).
• Electrocardiogram (ECG): Non-invasive testing to check heart rhythm. Learn more about electrocardiogram.

Learn more about duchenne muscular dystrophy treatment at Stanford.