• Doctor examining little girl

    New Guideline in Genetic Testing for Certain Types of Muscular Dystrophy

Knowing the specific subtype is important for getting the best possible careshutterstock_196951337

Rochester, Minn. – 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.

Researchers reviewed all of the available studies on the muscular dystrophy, a group of genetic diseases in which muscle fibers are unusually susceptible to damage, as part of the process in developing the new guideline.

Doctors should conduct a thorough evaluation of symptoms, family history, ethnicity, and results of physical exam and certain lab tests to determine what genetic tests may be more appropriate to order.

“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.

Media Contacts:
Duska Anastasijevic, Mayo Clinic Public Affairs, 507-284-5005, Email: newsbureau@mayo.edu

Rachel Seroka, AAN, rseroka@aan.com, (612) 928-6129

There are several known subtypes of limbgirdle 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.

The development of the guideline was funded in part by a grant from the CDC.

The guideline was endorsed by the American Academy of Physical Medicine and Rehabilitation, Child Neurology Society, Jain Foundation and Muscular Dystrophy Association.


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