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Genzyme Grant Allows LGMD Consortium to Expand Free Diagnostic Programme in USA
31 March 2015 - - The free LGMD-diagnosis.org genetic sequencing programme launched in September 2014 has been expanded thanks to a charitable contribution by French pharmaceutical company Sanofi's US-based Genzyme subsidiary, the group said on Tuesday. This programme was developed by a consortium of seven LGMD foundations to offer free genetic diagnoses to patients with limb-girdle muscle weakness. Any physician or individual can apply through LGMD-diagnosis.org and genetic analysis is performed by Emory Genetics Laboratory. To date, nearly 400 patients have applied and approximately 100 new patients are applying each month. Almost 97% of patients who have already received a genetic report have a genetic variation that could help doctors definitively diagnose their muscle disease. There are over 30 genetic subtypes of LGMD and all these rare muscular dystrophies cause weakness of the 'limb-girdle' muscles -- the muscles surrounding the shoulders and hips. In addition, weakness of the proximal muscles that is generally associated with LGMD can occasionally be caused by a metabolic muscle disorder known as Pompe disease, for which enzyme replacement therapy is available. Diagnostic testing associated with limb-girdle muscle weakness can help to accurately diagnose Pompe disease and point patients in the right direction for treatment. LGMD-Diagnosis.org is a diagnostic program for individuals with muscle weakness who have not been genetically diagnosed. Eligible individuals send in a saliva sample for analysis and receive a genetic report that they can discuss with their physician and genetic counselor to support proper disease management.  LGMD-diagnosis.org is sponsored by a consortium of family foundations that each focus on a separate form of LGMD. By coming together and pooling resources, the consortium foundations are rapidly and efficiently diagnosing many patients. Genzyme has a focus on rare diseases and multiple sclerosis.
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