Genetic testing, often via a blood sample, can confirm a muscular dystrophy diagnosis. It can also identify specific gene mutations to help guide treatment and determine whether or not someone is a ...
Facioscapulohumeral muscular dystrophy (FSHD) is a skeletal muscular dystrophy characterized by DNA hypomethylation of D4Z4 repeat units of a macrosatellite array found at the distal end of chromosome ...
"High clinical suspicion is important for this population of patients. Since muscular dystrophy is progressive in nature, monitoring disease progression in these patients is critical for timing ...
The muscular dystrophies are commonly associated with cardiovascular complications, including cardiomyopathy and cardiac arrhythmias. These complications are caused by intrinsic defects in ...
The U.S. Food and Drug Administration is tightening restrictions on a gene therapy used to treat Duchenne muscular dystrophy after two teenagers died from liver failure linked to the medication. The ...
We hypothesize that Duchenne muscular dystrophy and autism spectrum disorder/pervasive developmental disorder co-occur with a greater than random frequency. In this study, we set out to reject the ...
Duchenne and Becker muscular dystrophy are similar conditions caused by mutations in the same gene. However, Duchenne muscular dystrophy begins to cause symptoms at an earlier age, is more severe, and ...
Myotonic dystrophy is a condition that causes thinned muscles, decreased muscle tone, and muscle weakness. Over time, a person may lose their strength and have issues relaxing their muscles. The ...