Tests for muscular dystrophy generally look for genes associated with inherited muscle diseases and include measures of muscle strength and neurological tests along with other examinations to rule out other causes of symptoms.

Published: September 22, 2021 | Updated: June 5, 2023

Tests to diagnose muscular dystrophy generally look for genes associated with inherited muscle diseases and include measures of muscle strength and neurological tests along with other examinations to rule out other causes of symptoms.

Before any complex tests are conducted, your pediatrician or specialist physician will ask about your child’s symptoms and whether any other family members have had muscular dystrophy. Your health care provider also will examine your child’s muscle strength and nervous system reflexes.

Norton Children’s Orthopedics of Louisville, affiliated with the UofL School of Medicine, is one of our teams specializing in diagnosing and treating children with diseases that affect the nervous system, from motor neurons to muscle. These conditions generally are progressive, meaning they lead to loss of nerve or muscle function over time.

Muscular dystrophy is a group of inherited diseases that weaken muscles over time. In these diseases, there is a genetic change that prevents the child’s body from making the proteins needed to build and maintain healthy muscles. The Norton Children’s Orthopedics of Louisville team works with counselors from Norton Children’s Genetics Center, affiliated with the UofL School of Medicine, to help parents understand how muscular dystrophy can run in families.

“Genetic testing for muscular dystrophy, combined with muscle and nerve testing usually done under sedation, can provide a definitive diagnosis. Muscle biopsies are rare anymore, but also can provide information for the diagnosis,” said Star Nixon, M.D., pediatric orthopedic surgeon with Norton Children’s Orthopedics of Louisville. “If confirmed, accurate testing drives the next steps in treatment, whether the condition is Duchenne muscular dystrophy, Becker muscular dystrophy or one of the rarer types of muscular dystrophy disease.”

Tests for muscular dystrophy

• Genetic testing for muscular dystrophy is conducted by taking a sample of your child’s blood. Analysis of DNA can confirm certain neuromuscular diseases, including muscular dystrophy.
• Electromyogram (EMG) to measure the electrical activity between muscles and nerves. During an EMG, a needle — much like one used for an injection — is inserted into the muscle and collects electrical signals from the muscle. Results are shown on a computer screen for analysis.
• Echocardiogram uses sound waves to capture images of the heart painlessly. Cardiomyopathy — a weakened heart muscle — can result from muscular dystrophy.
• A muscle biopsy once was the primary test to confirm diagnosis, but is used less frequently now. A biopsy needle is used to retrieve a small sample of muscle tissue to be examined under a microscope.

Depending on the muscular dystrophy diagnoses and the treatment plan created, a child may be referred to the Norton Children’s Neuroscience Institute Muscular Dystrophy Clinic for treatment.