Videos of the entire MDA-sponsored conference on Becker muscular dystrophy, held Aug. 11, 2012, in Chicago, are available on the MDA website
Videos of the entire MDA-sponsored Becker Muscular Dystrophy Conference, held in Chicago on Aug. 11, 2012, are now archived on the Conference video page.
Each presentation covers a different aspect of Becker muscular dystrophy (BMD). Below is a short summary of each video, along with the running time in minutes and seconds.
Pat Casey, an occupational therapist at Northwestern University in Chicago, discusses strategies for getting the right equipment, urging, "Know yourself, find the resources, and be patient with others and with yourself" and cautioning that "something that worked yesterday might not work today."
Orthotics specialist Gene Bernadoni, who owns Ballert Orthopedic in the Chicago area, discusses orthotics — also known as orthoses — in BMD. An orthotic, he notes, is "an appliance or apparatus used to support, align, prevent or correct deformities, or to improve function of movable parts of the body."
He guides the audience through many types of foot orthotics, ankle-foot orthotics and hip flexion assist orthotics.
Megan Paul, a dietician with Walgreens Infusion Services, presents information on nutritional considerations in BMD. She touches on obesity related to immobility or steroid use; cardiac concerns; how to read nutritional labels; how to manage constipation; how to preserve bone health; and how to address swallowing problems.
Lisa Dellafave-Castillo, a genetic counselor at the University of Chicago, takes listeners through the ins and outs of the various mutations in the dystrophin gene that cause BMD.
Starting with the principles of genetics, she moves on to how mutations affect functioning of cells and tissues; how the dystrophin protein is supposed to work in cells and what happens if it's not working right; how BMD involves a reduced amount of dystrophin in muscle cells; how one can develop a new mutation in the dystrophin gene, inherit a mutation from a woman who has the mutation in all her cells, or inherit a mutation from a woman who has the mutation in some (but not all) of her egg cells; how to get genetic testing; what genetic testing in BMD can tell you; and what genetic counseling can do for you.
Lisa Wolfe, an associate professor in pulmonary medicine at Northwestern University in Chicago, gives a coherent and informative talk on evaluating lung function in BMD; looking at sleep to find breathing problems early; treating sleep-disordered breathing (breathing that's abnormal during sleep); and developing a good airway clearance plan.
In an extremely concise and comprehensible presentation, Elizabeth McNally, a cardiologist and expert on the genetics of heart disease at the University of Chicago, discusses cardiac aspects of BMD.
She discusses the necessity for echocardiograms to assess heart function; electrocardiograms (EKGs) to assess heart rhythms; Holter monitoring (wearing an EKG monitoring device for at least 24 hours) to detect heart rhythm abnormalities over time; and cardiac magnetic resonance imaging (MRI) to detect scarring in the heart. The current recommendation in BMD, she notes, is for a yearly echocardiogram, EKG and 24-hour Holter monitoring.
McNally talks about managing heart problems, if they occur, through medication use (such as ACE inhibitors, angiotensin receptor blockers, beta blockers, aldosterone antagonists, diuretics, anti-platelet agents, digoxin and statins; devices to prevent or correct abnormal heart rhythms, such as pacemakers, defibrillators (implanted or external) and ventricular assist devices; and maintaining optimal respiratory function — closely related to cardiac function — including using noninvasive ventilation if necessary.
McNally advises getting started early with identifying cardiac involvement in BMD and getting treated early if a problem is found. The goal, she says, is to slow the progression of heart problems or even prevent them.
Her talk also includes some glimpses of possible future treatments for BMD-related heart abnormalities, such as the cell membrane sealant p188 and gene therapy involving a gene for a calcium handling protein.
In a departure from the medical and scientific talks, the audience receives a thought-provoking presentation from sociologist Chris Rosa, assistant dean for student affairs at the City University of New York (CUNY), where he also teaches courses in disabilities studies. Rosa, who is a member of MDA's Board of Directors, has BMD and has used a wheelchair since he was 12.
Rosa says he thinks of people with BMD as a "BMD nation," a group with certain commonalities but also encompassing diversity.
Rosa considers himself and much of the BMD nation to be part of a new population — adults with what were formerly understood as pediatric neuromuscular disorders.
He says a useful way of thinking about life with BMD is a "transitions" model. As examples of transitions, he describes those from walking to wheelchair use; from pediatric to adult care; from school to work; from benefits to work; and from living with family to living on one's own.
He contrasts the transitions model, or frame of reference, with the traditional, medical way of looking at BMD and similar disorders, which he describes as a "deficit" model — wherein experiences are framed as a series of losses.
Rosa asks the audience to understand their lives as a series of transitions — predictable movements or shifts — and to focus on better understanding one's needs with each transition.
Figuring out what it will take to move from one stage to the next, including considerations of public policy, health care, finances, personal assistance and other dimensions, is key, he says.
Another concept Rosa presents is one of "transitional freedom," which he describes as a series of freedoms — freedom from the stigma associated with having a neuromuscular disease; freedom from fear; freedom from a preconceived notion of what is possible; freedom from services that are designed for children when you're an adult; freedom from other people's ideas about what independence means; freedom from restrictive public policies; and freedom involving self-directed choices.
He urges people to utilize the MDA Transitions Center as a virtual community and to become bloggers in that community.
Brian Tseng, a pediatric neurologist at Massachusetts General Hospital in Boston and the Novartis Institutes for BioMedical Research, tells listeners that if they've ever heard a doctor tell them their disease is genetic and that therefore "there's nothing we can do," they should "fire" that doctor.
Doctors should say, "It is genetic, but there's a lot we can still do," Tseng says. "That's the person you want to train for your team."
Tseng emphasizes that the U.S. health care system is turbulent and may become more so, and that people have to know about their own health and keep track of their own data. He suggests, for instance, having a binder with tabs for information such as lab results, echocardiograms, etc.; assembling a medical "dream team"; knowing about your insurance coverage, including how to get out of a care network when necessary; knowing about Social Security; and knowing how to appeal decisions without becoming angry.
Tseng also discusses participating in clinical trials, emphasizing that trials are "not the place to get health care." One's health care, he says, should be secure before entering a clinical trial.
He explains how a clinical trial is research, not treatment, and describes thinking otherwise as a "therapeutic misconception."
He directs the audience to ClinicalTrials.gov, where he says he recently found 37 active trials for BMD. (Enter "Becker muscular dystrophy" in the search box.)
Tseng urges people to participate in disease registries to "have your head counted," but he encourages caution when deciding whether or not to enter a clinical trial. Some trials, he says, are "exhausting," and all interventional trials (trials in which treatments are tried) involve risk.
Melissa Spencer, a biologist specializing in muscular dystrophy at the University of California, Los Angeles, where she has current MDA research support, describes how various disease "models" are used in research.
"It's not ‘one size fits all,’" she says. "You have to use the right model to fit the question being asked." In muscular dystrophies, that may be a tissue culture model, a zebrafish model, mouse model or dog model.
All are important "to get to clinical trials," she notes.
H. Lee Sweeney, a physiologist who specializes in muscle injury and disease at the University of Pennsylvania, where he has received MDA research support, discusses several current therapeutic "targets" at which BMD research is aiming (as of August 2012).
He presents strategies for increasing muscle mass and encouraging muscle regeneration; decreasing inflammation and fibrosis (scar tissue formation); correcting blood flow regulation; and correcting abnormalities in calcium handling in muscle.
One strategy for increasing muscle mass is delivering the gene for the follistatin protein to muscle. Sweeney notes a trial of this strategy is now taking place in Columbus, Ohio, and includes people with BMD. (See Follistatin Gene Transfer to Patients with Becker Muscular Dystrophy and Sporadic Inclusion-Body Myositis; or enter NCT01519349 into the search box at ClinicalTrials.gov; or contact Ana Maria Gomez at 614-722-2715.)
Imaging Muscular Dystrophy (23:21)
Glenn Walter, a muscle physiologist at the University of Florida in Gainesville, gives listeners an idea of what's available now and what's being developed with respect to imaging of BMD-affected muscles. He says current methods of monitoring disease progression, such as blood levels of muscle enzymes and analyzing muscle biopsy samples, have limitations, and that magnetic resonance imaging (MRI) and magnetic resonance spectroscopy (MRS) appear to be useful ways to follow BMD over time.
Ronald Victor, a cardiologist and current MDA research grantee at Cedars-Sinai Medical Center in Los Angeles, gives a thorough presentation about his research on medications known as PDE inhibitors in BMD. PDE inhibitors, such as tadalafil (Cialis) and sildenafil (Viagra), cause dilation of blood vessels and are commonly used to treat erectile dysfunction. The goal in BMD is to increase blood flow to exercising muscles, because many BMD-causing dystrophin mutations prevent this normal exercise-related increase from happening.
Victor is currently conducting an MDA-supported trial of tadalafil in BMD that is about to enter a new phase and will soon be open to an additional 12 people. (See Tadalafil in Becker Muscular Dystrophy; or enter NCT01070511 in the search box at ClinicalTrials.gov; or call 310-248-8080.)
In addition to the formal presentations, the BMD meeting included two question-and-answer sessions. For more, see: