Muscular Dystrophy News Home | Muscular Dystrophy News
Patients with certain mutations lose their walking ability earlier: Study. Specific genetic mutations in Duchenne muscular dystrophy (DMD) influence how long patients retain the ability to walk, even when treated with corticosteroids, according to a study that highlights the importance of genetic testing in predicting disease progression.
Life Expectancy - Muscular Dystrophy News
All muscular dystrophies cause muscle weakness, but life expectancy can vary dramatically between types of muscular dystrophy. While some cases may be mild and progress slowly, others can cause severe muscle weakness and disability. Some people with muscular dystrophy may have reduced life expectancy while others have a normal lifespan.
News Archives - Muscular Dystrophy News
Treatment with antimiRs, an RNA-based therapy approach, was able to correct molecular defects in a cell model of myotonic dystrophy type 1 (DM1) — a form of muscular dystrophy — according to the results of a new study. The researchers called their work “a significant step forward,” and noted that…. October 15, 2024 News by Lindsey ...
Educating all ages about living with muscular dystrophy
by Patrick Moeschen October 7, 2024. In my four decades of life with limb-girdle muscular dystrophy, I’ve become comfortable educating everyone I meet about my quality of life and the ways all of us living with chronic, rare conditions have been given a wonderful chance to influence societal views of the disabled community.
For DMD Patients, Life Expectancy Increasing, 40-year ...
Feb 1, 2022 · by Yedida Y Bogachkov PhD February 1, 2022. Life expectancy has been increasing in patients with Duchenne muscular dystrophy (DMD), according to an analysis of some 40 years of data, spanning births from before 1970 to the late 2000s. In fact, the median life expectancy of males with DMD born in the late 1990s advanced to more than 28 years.
Bethlem Myopathy - Muscular Dystrophy News
Bethlem myopathy, named after the Dutch doctor who first described it in 1976, is a rare and progressive form of muscular dystrophy.The condition mainly affects skeletal muscles and, to an extent, connective tissues. Less than 100 cases of Bethlem myopathy have been reported in the literature, making it a very rare form of muscular dystrophy.. Bethlem myopathy has not been …
#MDA2022 – DMD Gene Therapy PF-06939926 Safe at High Dose: …
Mar 17, 2022 · Treatment with PF-06939926, an experimental gene therapy for Duchenne muscular dystrophy (DMD), was generally well-tolerated among ambulatory patients — boys able to walk — in a Phase 1B clinical trial. Data also hint at the efficacy of the gene therapy, being developed by Pfizer, with researchers noting that PF-06939926 slowed the decline ...
How I've Outlived My Life Expectancy With Duchenne MD
Jan 10, 2022 · I Outlived My Life Expectancy by Focusing on Health and Purpose. by Hawken Miller January 10, 2022. Making it to 25 years old is no small feat. It means you’ve survived for a quarter of a century. While 18 is a clear demarcation between childhood and adulthood, 25 makes it even clearer still. I celebrated that moment on my birthday last Friday.
What Is Duchenne Muscular Dystrophy (DMD)?
Jan 19, 2022 · Duchenne muscular dystrophy is caused by mutations in the DMD gene, which provides cells with instructions for making a protein called dystrophin. Working in a complex with other proteins, dystrophin acts like a “shock absorber” in muscle cells, helping to protect the cells from wear-and-tear during the rigorous processes of muscle movements.
Ullrich Congenital Muscular Dystrophy (UCMD)
Ullrich congenital muscular dystrophy (UCMD) is a rare hereditary muscle condition that manifests at birth or a few months after birth. It belongs to a group of disorders called collagen type 6-related myopathies and characterized by abnormalities in collagen type 6, a major protein that supports skeletal muscles.. Causes. UCMD is caused by a mutation in one of three genes that provide ...