Author Archives: Shelly Rae Rich

In-depth Interviews Reveal Difficulties of Growing Up with Duchenne

Through in-depth interviews, adult patients with Duchenne muscular dystrophy (DMD) reveal their experiences and difficulties from the point of diagnosis, through disease progression, and how their attitudes changed over time. Transitioning to a wheelchair or a respirator were identified as triggers of anxiety and worry, and Duchenne patients at…

Combo Therapy Restores Muscle Function in Mice With Duchenne Muscular Dystrophy

A combination of two treatments significantly approved muscle function in mice with Duchenne muscular dystrophy (DMD), a study shows. Since both treatments are already approved, the findings “may open up new therapeutic avenues for Duchenne muscular dystrophy and possibly other neuromuscular diseases,” the researchers said.

Becker MD Found in Boy with Epilepsy, Delayed Cognitive Skills

Becker muscular dystrophy (BMD) was eventually diagnosed in a boy with epilepsy and dysgnosia (delayed cognitive development), but relatively age-normal running and walkingabilities, researchers report in what they called a rare case study. Later genetic testing revealed a duplicate mutation within the dystrophin gene, responsible for making a protein important…