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…

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…