Story by: Norton Children’s on September 22, 2021
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.
Our team of specialists works to maximize each child’s functional potential using various treatment types.
“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.”
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.