The molecular process that leads to congenital myotonic dystrophy (CMD) in infants and children was identified by researchers working with tissue samples and mice. Their study, titled “Disrupted prenatal RNA processing and myogenesis in congenital myotonic dystrophy,” was published in the journal Genes and Development. Genes code for various proteins that…
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…
Experts provided an overview of the many approaches to counteract the loss of muscle mass, inflammation, fibrosis, calcium overload, oxidative stress, and ischemia (inadequate blood supply) in Duchenne muscular dystrophy (DMD), without actually targeting the cause, a mutation in the dystrophin gene. The review, “Pharmacological therapeutics targeting the secondary…
End-stage heart failure is increasingly becoming the main cause of death in patients with Duchenne muscular dystrophy (DMD). Because cardiomyopathy, an abnormal heart condition, is difficult to detect, a study examined current diagnostic methods, treatment options, and potential future therapies for heart failure among…
Scientists have designed two proteins that stabilized muscle cell membrane support and maintained the structure of muscle fibers in animal models of congenital muscular dystrophy (MD). The finding, from the University of Basel in Switzerland, can not only provide new insights into the underlying mechanisms of muscular dystrophy, but may…
Interim results from the Phase 1/2 trial clinical trial investigating CAP-1002 as a treatment for heart disease associated with Duchenne muscular dystrophy (DMD) are being presented today at the 2017 Parent Project Muscular Dystrophy (PPMD) Annual Connect Conference taking place in Chicago. Linda Marbán, president and CEO of Capricor Therapeutics, is talking about the company’s plans…
Parent Project Muscular Dystrophy (PPMD) has added a pre-conference workshop to this year’s 23rd Annual Connect Conference, inviting international medical experts to discuss inflammation and immunity in Duchenne muscular dystrophy (DMD). The conference, set for June 29-July 2, is the largest international conference dedicated entirely to DMD. Each year, the event…
Researchers say it is important to carefully assess the timing of the start of corticosteroid treatment for Duchenne muscular dystrophy (DMD) in children and its potential association with disease outcomes. The study, “Associations between timing of corticosteroid treatment initiation and clinical outcomes in Duchenne muscular dystrophy,” was published in the…
Eloxx Pharmaceuticals received a $6 million investment from industry partners to advance a novel therapy for genetic diseases caused by nonsense mutations, including Duchenne muscular dystrophy (DMD), raising the total round of financing to $30 million. The investment will be used to advance the development of ELX-02, the…
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