The Muscular Dystrophy Association (MDA), the world’s leading nonprofit health agency dedicated to saving and improving the lives of people with muscle disease, announced that thanks to a grant from Genzyme, a Sanofi company, and in collaboration with Emory Genetics Laboratory, MDA clinics are now offering genetic testing for people experiencing muscle weakness suggesting limb-girdle muscular dystrophy (LGMD) who do not already have a genetic diagnosis. This advancement in diagnosis will help more people living with LGMD, and their clinicians, find the most accurate treatment path available.

“LGMD is a disorder with more than 30 genetic subtypes. What all the subtypes have in common is weakness of the ’limb-girdle’ muscles — the muscles surrounding the shoulders and hips,” said Valerie A. Cwik, MDA executive vice president and chief medical and scientific officer. “This test will allow clinicians to diagnose and treat individuals with more accuracy as some subtypes require different forms of intervention because they are much more likely than others to involve the cardiac or respiratory muscles.”

Additionally, weakness of the proximal muscles that appears to be associated with LGMD can occasionally be caused by a metabolic muscle disorder known as Pompe disease, for which enzyme replacement therapy is available. This test will help to accurately diagnose Pompe disease and point patients in the right direction for treatment.

"MDA is committed to bringing urgently needed therapy to children and adults affected by muscular dystrophy and related life-threatening diseases. This is an important first step for anyone without a definitive diagnosis related to LGMD," added Cwik. "We look forward to our continued partnership with Genzyme and to making an impact in lives that could be changed thanks to this new testing option."

“We are very pleased to support MDA in this important initiative.  Wide and early access to appropriate diagnostic testing can help more patients to get a diagnosis and access to potential treatment,” said Genzyme’s Acting Head of Rare Diseases, Richard Peters, MD, PhD.

The test requires a saliva sample, which can be collected at any one of the MDA clinics across the country and is then sent to Emory Genetic Laboratory. Results will be returned to the clinic physician and communicated to patients and their families within two to three months.

Genzyme has pioneered the development and delivery of transformative therapies for patients affected by rare and debilitating diseases for over 30 years.