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Muscular Dystrophy Diagnosis
Muscular Dystrophy Diagnosis at Stanford
Because the signs of muscular dystrophy can look the same as in other muscle disorders, families of children with muscular dystrophy sometimes spend years seeking a diagnosis.
Our Neuromuscular Program doctors have diagnosed thousands of individuals with muscular dystrophy. This experience enables them to more keenly assess patients, pick up on subtle signs that may escape a general practitioner, and more quickly arrive at a diagnosis.
Diagnosing Muscular Dystrophy: What to Expect
Our doctors use a comprehensive set of tests to help diagnose muscular dystrophy, including:
- Complete medical history and physical examination, including family history of 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 aid diagnosis.
- Imaging studies: Your doctor may want you to undergo ultrasound or magnetic resonance imaging (MRI).
- Biopsy: Muscle and nerve cells are examined under a microscope.
- Genetic testing to check for gene changes that are associated with muscular dystrophy.
- Heart testing, such as an electrocardiogram (ECG or EKG) test to check your heart rhythm.
After a thorough evaluation and diagnosis, our team will work with you to develop an individualized treatment plan. Learn more about muscular dystrophy treatment at Stanford.
Muscular Dystrophy and Heart Disease
It is critical for individuals with some muscular dystrophies to be evaluated for heart disease. Some, though not all, muscular dystrophies are associated with underlying disease of the heart muscle, which is why our colleagues in the Center for Inherited Cardiovascular Disease may also be asked to check your heart function.
Learn more about our experts in the Stanford Center for Inherited Cardiovascular Disease.
Clinical Trials
Clinical trials are research studies that evaluate a new medical approach, device, drug, or other treatment. As a Stanford Health Care patient, you may have access to the latest, advanced clinical trials.
Open trials refer to studies currently accepting participants. Closed trials are not currently enrolling, but may open in the future.