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Recent Quest Articles
Research Briefs: The DMD/BMD-Affected Heart
In both Duchenne muscular dystrophy (DMD) and Becker muscular dystrophy (BMD), deterioration of the heart muscle, a condition known as cardiomyopathy, is a major cause of disability and death.DMD and BMD both result from mutations in the gene for dystrophin, a protein found in muscles controlling body movement and respiratory effort, as well as in the heart. When dystrophin deficiency is complete (or nearly complete), the disease is known as DMD. When there's a partial deficiency of dystrophin, the result is BMD.
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FDA Approves Phase 1 Clinical Trial of RG3039 in SMA
In a historic first, biotech company Repligen Corp., of Waltham, Mass., has received approval from the U.S. Food and Drug Administration (FDA) to begin a phase 1 clinical trial of the experimental drug RG3039 for spinal muscular atrophy (SMA).This marks the first human trial of a drug specifically designed to treat SMA. RG3039 is a small-molecule compound designed to increase cellular levels of the SMN protein, which is deficient in SMA.
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Research Briefs: BMD, DMD, EDMD, FA, LGMD, OPMD, Pompe disease, SMA
Santhera Pharmaceuticals announced May 9, 2011, that its drug Catena (generic name idebenone) appears to slow the decline in respiratory function associated with aging in people with Duchenne muscular dystrophy (DMD). Idebenone may improve energy production in muscle and nerve cells.The announcement, made at the 4th International Congress of Myology in Lille, France, reflects the first analysis of a two-year, open-label extension study (DELPHI Extension). (“Open-label” means everyone in the trial received Catena. There was no placebo group.)
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Bidets: A Disability Friendly Way to Go
A few years ago, Bonnie Guzelf of Phoenix began having difficulty using the bathroom by herself. Guzelf, who has a slowly progressive form of ALS (amyotrophic lateral sclerosis), found that her hands, arms and legs were getting too weak to perform basic hygiene. A friend who is an occupational therapist suggested she get a bidet.
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Enhancing Blood Flow to Exercising Muscles
Ronald Victor admits it: He never set out to study muscular dystrophy. As an adult cardiologist specializing in hypertension (high blood pressure) and neurologic control of cardiovascular mechanisms, he’s a relative latecomer to the muscle field, but far from a reluctant one.Victor, who’s now associate director of the Cedars-Sinai Heart Institute and director of the Cedars-Sinai Hypertension Center in Los Angeles, has been interested for decades in how the body allocates blood supply to various tissues under different conditions — something that’s largely under the control of the autonomic nervous system.
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Getting a Tracheostomy: My Story
I am writing this article about getting a tracheostomy for others with muscular dystrophies. Many patients are reluctant to have the procedure done because they fear they will lose the ability to talk or to swallow. Neither is true. And, the new trach tubes make it possible to easily take care of a tracheostomy and the tubes.
Read MoreResearch Updates Spring 2011
In this issue: MDA awards 44 new research grants * A recently discovered gene variant may indicate severity of DMD * Heart care in Duchenne MD and Becker MD addressed at MDA-sponsored meeting * Duchenne-Becker 'read-through' drug to begin development * Flow charts may aid in diagnosing CMT
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Doctors Talk Heart to Heart
Update (Jan. 23, 2013): As of early 2013, MDA's DMD Clinical Research Network includes these five sites: University of California, Davis (UC Davis); Nemours Children's Hospital in Orlando, Fla.; Washington University in St. Louis; Nationwide Children’s Hospital in Columbus, Ohio; and Children's Medical Center in Dallas. See Help Today, Help Tomorrow is Goal of MDA's Duchenne Clinical Research Network to learn more.
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Nationwide Children's Podcast Explores Immunity in DMD
A January 2011 podcast from Nationwide Children's Hospital in Columbus, Ohio, probes a subject that's been on the minds of many researchers, doctors and families: autoimmunity (self-immunity) in Duchenne muscular dystrophy (DMD).The podcast consists of an approximately 15-minute discussion between two physicians with the Center for Gene Therapy at Nationwide, neurologist Jerry Mendell and neurogeneticist Kevin Flanigan. It's part of a series of monthly podcasts, produced at Nationwide and archived on the institution's website, called This Month in Muscular Dystrophy.
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Floods, Emergency Prep and Me
Devastating. Humbling. Unifying. Frightening.Those are words that echoed through Nashville on the weekend of May 1, 2010, when the area was hit by a storm of Biblical proportions — a storm that would ultimately change the face of this beautiful city.Although I’ve written in the past about disaster preparation for Quest readers, there is nothing like firsthand experience. Here, then, is my story.
Read MoreMDA Resource Center: We’re Here For You
Our trained specialists are here to provide one-on-one support for every part of your journey. Send a message below or call us at 1-833-ASK-MDA1 (1-833-275-6321). If you live outside the U.S., we may be able to connect you to muscular dystrophy groups in your area, but MDA services are only available in the U.S.
