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Congenital Muscular Dystrophy (CMD) Diagnosis

Getting an early, accurate diagnosis is important for children born with a congenital muscular dystrophy because an earlier diagnosis leads to faster treatment.

Our Stanford neuromuscular doctors have decades of experience diagnosing even the rarest forms of CMD. This enables them to arrive at a diagnosis sooner by spotting subtle signs of disease other doctors might miss.

Diagnosing Congenital Muscular Dystrophy: What to Expect

Diagnosing your child may include:

• 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 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: Examines individual genes to look for abnormalities known to cause congenital muscular dystrophy

Read more about congenital muscular dystrophy treatment at Stanford.