Joseph Penrod from Detroit, Michigan is a 14-year-old boy who is rapidly losing his mobility. Diagnosed with Duchenne muscular dystrophy at the age of six, the disease has gradually taken away his ability to walk and he now needs a motorized wheelchair to get around. According to the…
Resolaris, a protein therapy developed for rare muscle diseases by aTyr Pharma, improved muscle strength and quality of life in a small study of patients with early onset facioscapulohumeral muscular dystrophy (FSHD). These findings, as well as others regarding the effect of Resolaris in patients with limb girdle muscular…
Japan has put Duchenne muscular dystrophy (DMD) drug candidate DS-5141b on its SAKIGAKE list, a designation to the U.S. Food and Drug Administration’s Fast Track Designation. United States’ fast tract. Daiichi Sankyo, the drug’s developer, announced the decision in a press release. An open-label Phase 1/2 clinical trial (NCT02667483), currently recruiting participants,…
The Duchenne muscular dystrophy (DMD) treatment Emflaza (deflazacort) was successfully acquired by PTC Therapeutics under terms agreed to in March, and may soon become available to patients at, potentially, a new and lower listing price. The now-completed agreement followed U.S. Food and Drug Administration (FDA) approval of Emflaza to treat all…
It can be a bewildering time for a family when a child is diagnosed with muscular dystrophy. There’s a lot to learn, not only about the disease and how it will affect their child but the treatment and care options available, how to deal with the emotional aspect of the disease, how it might…
RNA sequencing may help to diagnose rare genetic muscle diseases — including muscular dystrophies — in people, according to the results of an international collaboration between several scientists. The study, “Improving genetic diagnosis in Mendelian disease with transcriptome sequencing,” was published in the journal Science Translational Medicine. Several muscle…
Non-profit organizations for spinal muscular atrophy (SMA) and muscular dystrophy are reliant on help from people to raise both funds and awareness of the diseases. The money used goes towards research for better treatments, drugs, and understanding of the diseases and to assist patients who have unique needs and…
When Jared Caplin from St. George, Utah, graduated from high school, he didn’t want to go to college—he had other plans. As an ambassador for the Muscular Dystrophy Association (MDA), Jared wanted to continue his work raising awareness of muscular dystrophy. He decided to do that through his YouTube channel…
Researchers have found that Duchenne muscular dystrophy (DMD) patients can safely continue oral feeding by using manual assistance for coughing or mechanical insufflation-exsufflation. The study, “Rate of oral intake and effects of mechanical insufflation-exsufflation on pulmonary complications in patients with Duchenne muscular dystrophy,” was published in the Journal of…
Researchers from the National Institutes of Health have gained valuable insight into how cells in the heart and other muscles protect themselves from sudden plunges in energy production. Their findings shed light on how energy shortages affect patients with muscular disorders such as muscular dystrophy. And they may pave…
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