News

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…

Apabetalone May Repress Toxic Gene in Rare Muscular Dystrophy (FSHD)

Apabetalone (RVX-208) may become a promising therapy to treat facioscapulohumeral muscular dystrophy (FSHD), according to results announced by the pharmaceutical company Resverlogix. Researchers found this drug acts by switching off the DUX4 gene, which is abnormally active in the muscles of FSHD patients, causing inflammation and muscle atrophy. Apabetalone…

Emflaza Release Put on Hold as DMD Community Reacts to $89K Price Tag

Just days after Emflaza (deflazacort) became the first corticosteroid approved in the U.S. to treat Duchenne muscular dystrophy (DMD) regardless of mutation, the drug’s developer, Marathon Pharmaceuticals, announced it is “temporarily pausing” its sale in the U.S. to address concerns among the DMD community, particularly about the therapy’s high list price…

Researchers Identify New Congenital Muscular Dystrophy

Researchers suggest a mutation in the INPP5K gene caused a new type of congenital muscular dystrophy. Individuals affected by the unique mutation also have a short stature, intellectual disabilities, and cataracts. The study, “Mutations in INPP5K Cause a Form of Congenital Muscular Dystrophy Overlapping Marinesco-Sjögren Syndrome and Dystroglycanopathy,” was a…

Strategies May Help Measure Muscle Function, Monitor Therapeutics in DMD Children

Two non-invasive strategies for measuring muscle function and its properties, electromechanical delay and ultrasound shear wave elastography, may help detect muscle impairments and assist in monitoring Duchenne muscular dystrophy (DMD) patients’ responses to therapy. The study “Effects of Duchenne muscular dystrophy on muscle stiffness and response to electrically-induced muscle…

Gene Variations May Benefit Those with Duchenne Muscular Dystrophy

Gene variations that decrease the production of a certain protein appear to reduce muscle strength in patients with Duchenne muscular dystrophy (DMD) but improve their disease progression, according to a study. The research, “Evidence For ACTN3 As A Genetic Modifier Of Duchenne Muscular Dystrophy,” was published in the journal…