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MDA Offers Limb-Girdle Muscular Dystrophy (LGMD) Genetic Testing Program at No Cost to Families

MDA, Sanofi Genzyme and EGL Genetics team up to expand access to genetic testing for accurate diagnosis of cause of limb-girdle muscle weakness
September 30 is LGMD Awareness Day

CHICAGO, Sept. 28, 2017 — In conjunction with Limb-Girdle Muscular Dystrophy Awareness Day (Sept. 30), the Muscular Dystrophy Association (MDA) announced today that thanks to additional support from Sanofi Genzyme, and in collaboration with EGL Genetics, MDA Care Centers and Care Affiliates are offering genetic testing for individuals experiencing limb-girdle muscle weakness and who do not already have a confirmed genetic diagnosis. This advancement in diagnosis will help more individuals living with unexplained limb-girdle muscle weakness, and their clinicians, find the most accurate treatment path available.

“LGMD is a disease with more than 30 genetic subtypes and the common denominator is weakness of the ’limb-girdle’ muscles — the muscles surrounding the shoulders and hips,” said Grace Pavlath, Ph.D., MDA’s Senior Vice President and Scientific Program Director. “With so many different subtypes and significant variability in the symptoms, progression and severity among subtypes, genetic testing is crucial in aiding clinicians to diagnose and treat individuals with more accuracy.”

Genetic testing is important because a definitive diagnosis is the first step to effectively managing an individual’s neuromuscular disease. It can help ensure an individual receives the most appropriate treatment, achieves the best outcomes and gains access to clinical trials or specific treatment regimens. Through this program, individuals can be tested to find out if they have one of the known subtypes of LGMD or a number of other disorders that can sometimes cause similar symptoms.

"This testing program is an important step for anyone without a definitive diagnosis related to limb-girdle muscle weakness," Pavlath added. We look forward to making an impact on lives that could be helped thanks to this genetic testing option. We will be able to help more individuals and families receive a confirmed genetic diagnosis at no cost."

The test requires a small saliva or blood sample, which can be collected at any one of the MDA Care Centers or Care Affiliates across the country and is then sent to EGL Genetics. Within three to four weeks, results will be returned to the physician and communicated to individuals and their families. To find an MDA Care Center or Care Affiliates near you and to learn more, visit /services/your-mda-clinic.

About MDA
MDA is leading the fight to free individuals — and the families who love them — from the harm of muscular dystrophy, ALS and related diseases that take away physical strength, independence and life. We use our collective strength to help kids and adults live longer and grow stronger by finding research breakthroughs across diseases; caring for individuals from day one; and empowering families with services and support in hometowns across America. Learn how you can fund cures, find care or champion the cause at mda.org.