Muscular dystrophy (MD) is a group of musculoskeletal diseases that cause progressive weakness, loss of muscle mass, and impaired locomotion. In muscular dystrophy, abnormal genetic variations impede the production of proteins necessary for healthy muscles. There are various types of MD, and the clinical presentations of the most common variety begin in childhood, primarily in males. However, other types of MD don't appear until adulthood.
With many of the neuromuscular disorders overlapping in their clinical and/or pathological phenotypes, molecular testing can be necessary to pinpoint the precise disorder a patient has.
EGL has partnered with three organizations, Parent Project Muscular Dystrophy, the Jain Foundation, and LGMD consortium to help spread MD awareness, provide assistance to individuals and families affected by MD, and find a cure.