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New Guideline in Genetic Testing for Certain Types of Muscular Dystrophy

The American Academy of Neurology (AAN) and the American Association of Neuromuscular & Electrodiagnostic Medicine (AANEM) offer a new guideline on how to determine what genetic tests may best diagnose a person’s subtype of limb-girdle or distal muscular dystrophy. The guideline is published in the October 14, 2014, print issue of Neurology®, the medical journal of the AAN.

“The guideline should help physicians arrive at the right diagnosis quicker so patients will not need to take unnecessary test”, says Mayo Clinic neurologist Duygu Selcen, M.D., who was part of the multi-center research team led by Julie Bolen, PhD, MPH, from the National Center on Birth Defects and Developmental Disabilities, at the Centers for Disease Control and Prevention (CDC). “This is particularly important because the muscle diseases are often hard to diagnose”, adds Dr. Selcen.

There are several known subtypes of limb-girdle muscular dystrophy and distal muscular dystrophy. Experts continue to discover new subtypes and the guidance should help shorten the time to the right treatment.

While there is no cure for these disorders, complications can be managed. The guideline makes recommendations about treating and managing complications, which may include muscle symptoms, heart problems and breathing problems.

The guideline recommends that care for people with these disorders should be coordinated through treatment centers specializing in muscular dystrophy. People with these disorders should tell their doctors about any symptoms such as the heart beating too fast or skipping beats, shortness of breath and pain or difficulty in swallowing, as treatments may be available. People should also talk to their doctors about exercises that are safe.

Read the full post on the Mayo Clinic News Network to learn more.

brentwestra

brentwestra

Brent Westra is a Marketing Segment Manager at Mayo Clinic Laboratories. He leads marketing strategies for product management and specialty testing along with new media innovations. Brent has worked at Mayo Clinic since 2011.