Guideline offers direction in genetic testing for certain types of muscular dystrophy

A new guideline from the American Association of Neuromuscular & Electrodiagnostic Medicine (AANEM) and the American Academy of Neurology (AAN) offers recommendations on how clinicians should evaluate the full picture—symptoms, family history, ethnicity, physical exam, and lab test results—in order to determine what genetic tests may best diagnose a person’s subtype of limb-girdle or distal muscular dystrophy. The guideline was published recently inNeurology.

“These are rare muscle diseases that can be difficult to diagnose,” says guideline lead author Pushpa Narayanaswami, DBBS, DM. “With an accurate diagnosis, unnecessary tests or treatments may be avoided. Knowing the specific subtype is important for getting the best possible care.”

There are several known subtypes of limb-girdle muscular dystrophy and distal muscular dystrophy. Experts continue to discover new subtypes. Certain signs, symptoms, and other information such as family history can help doctors determine a person’s subtype. “Looking at a range of clinical signs and symptoms—such as which muscles are weak and if there is muscle wasting or enlargement, winging out of the shoulder blades, early signs of contracted limbs, rigidity of the neck or back, or heart or lung involvement—can help doctors determine which genetic test to order,” says senior author Anthony A. Amato, MD.

“Before this publication, there were no care guidelines that covered both limb-girdle muscular dystrophy and distal MD and were based on the evidence,” says Julie Bolen, PhD, MPH, team lead, National Center on Birth Defects and Developmental Disabilities, Centers for Disease Control and Prevention (CDC). “We hope that this guideline will fill that gap for both the people who live with these rare disorders and the healthcare professionals who treat them.” Read the article inNeurology.