Skeletal muscle channelopathies and myotonic disorders constitute a heterogeneous group of neuromuscular conditions caused by mutations that impair the function of ion channels, including sodium and ...

On World Rare Disease Day, we take a look at Pompe disease - a rare genetic disorder caused by a deficiency of the GAA enzyme, leading to glycogen buildup in muscles. It results in progressive muscle ...

If your doctor has suggested that you may have a myopathy, you likely have a lot of questions. There are many types of myopathies with different causes and outlooks. Myopathies are a class of diseases ...

A new rare muscle disorder has been identified by researchers at Ruhr-Universität Bochum (RUB). This hereditary disease is caused by a defect in the BICD2 gene that manifests itself in altered ...

According to the World Health Organization (WHO), over 150 musculoskeletal disorders typically fall within four categories. Treatment for a musculoskeletal disorder may vary, depending on the symptoms ...

Symptoms of DMD start in early childhood. Often, the first noticeable sign is a delay in reaching developmental milestones, like walking well by 18 months of age or sitting or standing without ...

Entering the age of 2 years, almost most children will start to actively explore their surroundings. However, there are some who appear lethargic due to muscle weakness in their bodies. This condition ...

Musculoskeletal (MSK) disorders affect the muscles, bones, joints, and tissues. In children, they may be due to infection, cancer, inflammatory arthritis, or progressive muscle disorders. MSK ...

Pathologic changes of the X-chromosome gene for dystrophin give rise to Duchenne muscular dystrophy (DMD), and dystrophin -- which minimizes muscle fiber loss due to sarcolemma contraction damage when ...

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 ...