[September 30, 2014]

Consortium of LGMD Family Foundations Offers Genetic Testing for Patients with Muscle Weakness

Several family foundations have come together to help people suffering from muscular dystrophy obtain a definitive and specific diagnosis by offering free genetic testing. The sponsoring foundations' efforts are focused on rare muscle diseases that share some common symptoms, but are caused by mutations in a large number of different genes. The large genetic diversity, high cost of genetic analysis, and refusal of some health insurance companies to cover genetic diagnosis of these diseases prevent many individuals from obtaining a definitive diagnosis. The program is launching today in anticipation of Limb-Girdle Muscular Dystrophy (LGMD) Awareness Day, which will be celebrated annually starting on September 30^th, 2015.

"A complete and accurate diagnosis at the genetic level is critical for patients with muscular dystrophies because management of the diseases may be different. Many muscular dystrophies have concomitant involvement of the heart and/or lungs, while others do not. Additionally, some muscular dystrophies may be mistaken for inflammatory myopathies leading to treatments that may have no effect or even cause harm. Importantly, patients cannot participate in clinical trials or studies without genetic confirmation," said Dr. Matthew Wicklund, MD, Professor of Neurology and Pediatrics at Penn State Hershey Medical Center.

"By combining resources and creating a single website where patients with undiagnosed muscle diseases can go fo help, the foundations will help spread disease awareness for muscular dystrophies as well as increase the efficiency and frequency of genetic diagnosis for individuals afflicted with muscular dystrophy. As more newly diagnosed patients join disease-specific registries, the foundations will become better prepared for future clinical trials," said Dr. Madhuri Hegde, Executive Director of the Emory Genetics Lab.

This program is beginning with a preliminary study of 100 eligible US residents who will have genetic analysis done on a panel of 35 genes known to be involved in various forms of limb girdle muscular dystrophy as well as other muscle diseases with similar symptoms. The success of this first study will determine if the program can be expanded to include more patients in the US as well as internationally. Individuals with muscle weakness who suspect they may have a form of limb girdle muscular dystrophy must take an online quiz (www.lgmd-diagnosis.org) to determine whether they are eligible.

ABOUT LGMD-diagnosis.org

LGMD-diagnosis.org is the website maintained by the consortium of foundations sponsoring this diagnostic initiative. It offers an online quiz that individuals without a genetic explanation for their muscle weakness can take to determine whether they are eligible for free genetic sequencing. Eligible individuals who consent to participate will send in a saliva sample for analysis and will receive a genetic report that they should take to their physician for genetic counseling and proper disease management once the analysis is complete. The website also provides links to all the foundations in this consortium. www.lgmd-diagnosis.org

ABOUT THE SPONSORS

The program is sponsored by the Cecil B Day Family, Inc (LGMD2B), Coalition to Cure Calpain 3 (LGMD2A), Jain Foundation (LGMD2B), Kurt + Peter Foundation (LGMD2C), LGMD2D Foundation, LGMD2I Fund, and McColl-Lockwood Laboratory (LGMD2I). www.lgmd-diagnosis.org/about-the-sponsors

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