Melanie Cole (Host): You know aside from seeing the telethon on Labor Day weekend, many people don't really know much about muscular dystrophy, yet a quarter of a million children and adults are living with this disease, so the chances are you might know somebody with it. My guest today is Dr. Kenneth Silver. He's a pediatric neurologist at Shriners Hospitals for Children in Chicago, and the Co-Director of the Muscular Dystrophy MDA Affiliated Clinic at Shriners Hospitals for Children - Chicago. Dr. Silver, what is MD for people that really don't even know, and are there different types?
Dr. Kenneth Silver, M.D. (Guest): Yes, well thank you for your question. Muscular dystrophy is a group of disorders which are essentially deterioration in the muscle, and these muscles can get progressively weaker over time. There are many different types of muscular dystrophies, and at the Shriners Hospital in Chicago in our MDA clinic, we do see a wide variety of these patients with muscular dystrophy. The usual clinical presentation is weakness of muscles, and this weakness in the muscles would interfere with the child's ability to perform certain tasks such as sitting, or walking, or running, or climbing stairs, and this is the usual presentation in most of the patients with muscular dystrophy. There can be some other involvements as well, sometimes the eye movements can be impaired, and sometimes the heart can be affected as well because it is a very strong muscle, and whatever causes the weakness in the body muscles can also affect the heart muscle.
Melanie: Dr. Silver, when do these clinical presentations, these symptoms typically arise? When is it typically diagnosed?
Dr. Silver: So in the more severe cases, muscular dystrophies can start actually in the fetus when the baby is still in the womb, and they would have decrease in fetal movements, and the kicking, and body movements, and it's hard to recognize that, and only after the baby is born when we see that the baby is weak, limp, not breathing very well. Sometimes they have contractures we call that arthrogryposis, and they don't move as much after birth, and so it could be what we call a congenital form of muscular dystrophy.
These are actually rare. The more common forms are those muscular dystrophies which start to appear at an older age, either a few months or a few years of age. The most common in boys is something called Duchenne muscular dystrophy, and Duchenne was a famous French neurologist who the condition is named after. And these children usually present with problems after a year or so where they might be slow in walking, they might have difficulty getting up to stand, they might have difficulty climbing stairs. Sometimes these children, if they're less severely affected, they would present when they start school and the teacher would notice, "Oh this child is not keeping up with physical activities or running like the other children," and then it will come to medical attention at that time.
Melanie: Dr. Silver, as there's no cure, correct? For muscular dystrophy. What kind of treatments would be available? What can you do for these children as they grow from toddlers and even into teenage years?
Dr. Silver: So the first step would be obviously to make a most precise diagnosis, and as in all fields of medicine, to take a good history to identify is there indeed concern of a muscle disease? And then to do exam to establish that there is indeed weakness, and what could potentially be the cause, and then confirm it with different kinds of testing which are usually blood tests. And then once that diagnosis is confirmed, them usually these patients are seen in our clinic or in other centers in a multi-disciplinary fashion.
So for instance, in the Shriners Hospital, we have a very large MDA neuromuscular clinic which are staffed by myself, orthopedic surgeon, a rehabilitation doctor, occupational therapist, physical therapist, psychologist, social workers, speech therapists and nutritionists, and we all work very closely together and see the patients as they come into clinic. And then these different therapies are offered to the patient and their family, and to make sure that they're getting appropriate referrals to these therapists so the child can get the best outcome possible.
Another complication in treatment often of neuromuscular disease is that the spine starts to curve and it produces a condition called scoliosis, and often patients would be followed for this condition, and especially at the Shrine Center, which has a special expertise in treatment of spinal scoliosis, and sometimes surgery is required, and then the patients also might require further evaluation for their heart, and breathing to make sure it's not compromising their general health. Nutrition and bone health are also very important in these children, so these are other conditions that have to be monitored in addition to the muscular weakness.
It depends on the type of muscular dystrophy, so some of these disorders, there is some treatments available. The most common one that we see here at the Shriners is Duchenne muscular dystrophy where we treat with steroids. Things like Prednisone and another relatively newer drug called Deflazacort, which we use often to help slow down the progression of this muscular disorder.
Melanie: That certainly is a multi-disciplinary team care approach that you've described. What are parents looking for in treatment, Dr. Silver? When they come to you and they ask you about Shriners Hospitals for Children - Chicago, and the muscular dystrophy clinic, what do you tell them as far as what they should be looking for and questions that they should be asking?
Dr. Silver: Well I think they want to have confirmation of the diagnosis. "Is this the right diagnosis? What will happen to my child? What can I expect to occur over years? How are we going to best treat them to minimize these kinds of complications of the disease? And what kind of other treatments, as I mentioned like the steroids, is appropriate, and what are the risks and side effects of these medications?
Melanie: Tell us about your monthly clinic, and how that provides that comprehensive care from pediatric neurologists such as yourself, with orthopedic surgeons; speak about that multi-disciplinary approach.
Dr. Silver: So it's actually twice a month, we hold a full day clinic where patients would come in for evaluation and treatment of their neuromuscular disease, and seen by our multi-disciplinary team. So usually patient visits are three or four hours, and they would get to see all of the specialists that I had initially mentioned. Sometimes the patients are seen with several of the specialists at the same time, or sometimes it's individually. And my colleagues and I evaluate the patients, and decide the most appropriate treatments and recommendations to the family.
Melanie: Thank you so much. What great information, and thank you again for all the great work that you're doing there at Shriners Hospitals for Children - Chicago. This is Pediatric Specialty Care Spotlight with Shriners Hospitals for Children - Chicago. For more information please visit www.ShrinersChicago.org. That's www.ShrinersChicago.org. This is Melanie Cole, thank you so much for tuning in.
