Limb-Girdle Muscular Dystrophy Diagnosis

Diagnosing Limb-Girdle Muscular Dystrophy at Stanford

Limb-girdle muscular dystrophy can be difficult to diagnose because its signs and symptoms closely resemble those of related disorders. For many people, achieving an accurate diagnosis takes several years.

At Stanford, we may be able to diagnose limb-girdle muscular dystrophy faster because our neuromuscular doctors have decades of experience identifying even the rarest types of limb-girdle muscular dystrophies. This extensive clinical experience allows us to pick up on subtle diagnostic signs other doctors may miss.

Learn more about the Stanford Neuromuscular Program.

Diagnosing Limb-Girdle: What to Expect

Diagnosing limb-girdle muscular dystrophy includes ruling out other, similar disorders. We use advanced testing, including:

• Complete medical history and physical examination, including family history of muscular dystrophy or any other 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.
• Muscle biopsy: Examination of a small sample of muscle tissue to look for abnormalities
• Imaging studies: Non-invasive testing, including ultrasound, CT scan or magnetic resonance imaging (MRI).
• Electrocardiogram (EKG): Non-invasive testing to check heart rhythm. Learn more about electrocardiogram.
• Genetic testing: Examines individual genes to look for abnormalities known to cause limb-girdle muscular dystrophy.