Patricia Inácio, PhD, science writer —

A comprehensive 12-year genetic and clinical analysis of unrelated patients with congenital muscular dystrophies (CMDs) in the U.K. has confirmed MDC1A as the the most common CMD subtype, and identified 160 new mutations. The study, “Congenital muscular dystrophies in the UK population: Clinical and molecular spectrum of a large…

Overnight use of hand braces preserves hand function and delays the development of shortened muscles or joints in boys who have Duchenne muscular dystrophy (DMD), a study shows. The research, “Evaluation of hand orthoses in Duchenne muscular dystrophy,” was published in the journal Disability and Rehabilitation. Life expectancy in boys…

MoveDMD (NCT02439216) is a three-part, ongoing clinical trial investigating an oral drug — edasalonexent (CAT-1004) — as a potential therapy in boys, ages 4 to 7, with Duchenne muscular dystrophy (DMD). The drug targets NF-kB, a protein activated in DMD and shown to promote the disease by driving inflammation, muscle degeneration,…

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…

Bone health varies greatly among patients with facioscapulohumeral muscular dystrophy (FSHD), according to the results of a small group study, and tests for strength and functionality may identify those with higher risks for decreased bone health. The study “Bone Health in Facioscapulohumeral Muscular Dystrophy: A Cross-Sectional Study” was published…

Administration of Inspra (eplerenone) to young boys with Duchenne muscular dystrophy (DMD) improves their heart function and stabilizes it in older boys, a recent study shows. The study “Eplerenone for early cardiomyopathy in Duchenne muscular dystrophy: results of a two-year open-label extension trial” was published in the Orphanet…

The natural sugar fructose, commonly found in fruits and vegetables, may improve a type of treatment for Duchenne muscular dystrophy (DMD), according to researchers. The study, “Fructose Promotes Uptake and Activity of Oligonucleotides With Different Chemistries in a Context-dependent Manner in mdx Mice,” was published in the journal Molecular…

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…

A Duchenne muscular dystrophy (DMD) patient who is now in his 50s gained the notice of researchers, who say his case could illustrate the benefits of noninvasive mechanical ventilation in patients with well-maintained cardiac function. It is the first report of a patient living into his sixth decade. The report, “New Survival…

Long-term therapy with daily glucocorticoid therapy can improve clinical outcomes of young patients with Duchenne muscular dystrophy (DMD) without serious side effects, according to recent research. In “Long-Term Outcome of Interdisciplinary Management of Patients with Duchenne Muscular Dystrophy Receiving Daily Glucocorticoid Treatment,” researchers performed a retrospective study with 97 DMD…