Muscular dystrophy only affects young males and is the most common inherited neuro-muscular condition here, affecting one in 3,500 boys Researchers in Dublin and Bonn have made an important discovery related to muscular dystrophy, a relatively common inherited degenerative disorder. The finding could make it possible to diagnose the condition much earlier, and may also point a way towards new treatment options. Muscular dystrophy only affects young males and is the most common inherited neuro-muscular condition here, affecting one in 3,500 boys. Muscle function gradually declines and sufferers have an average life expectancy of just 20 years. Research led by the University of Maynooth with colleagues from the University of Bonn and Dublin City University decided to carry out a detailed study of what was going on inside the muscle cells of those with the condition, said Prof Kay Ohlendieck, chair of Maynooths department of biology. We looked at 1,000 different proteins, comparing those from a healthy cell with those from a diseased cell, looking for any differences between them, he said. The disease interferes with a protein that helps muscle cells to be elastic, which in turn causes a buildup in the cells of a structural protein called collagen. … Continue reading →

CHICAGO, March 26, 2015 /PRNewswire-USNewswire/ -- The Muscular Dystrophy Association announced today 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 … Continue reading →