Transcription:
Understanding Muscular Dystrophy

Melanie Cole (Host): Muscular dystrophy is a genetic condition that can weaken muscles and in many cases can require patients the use a wheelchair. However, there are treatment options available for patients and their families. My guest is Dr. Rebecca Scharf. She’s a board certified pediatrician who specializes in developmental and behavioral pediatrics at UVA Children’s Hospital. Welcome to the show, Dr. Scharf. Tell us a little bit, what’s muscular dystrophy?

Dr. Rebecca Scharf (Guest): Thank you, Melanie. Muscular dystrophy is a genetic disorder that involves progressive degeneration and weakening of the muscles. We often see children with Duchenne muscular dystrophy in our clinic, which is one of the most common types that we see, one of the nine types of muscular dystrophy. This disorder involves particularly the muscles but can involve cells throughout the whole body and tends to lead to weakness over time.

Melanie: Do doctors know what even causes it? Is it something that’s present right at birth?

Dr. Scharf: Yes, we do know what causes it. Duchenne muscular dystrophy is caused by an absence of a protein in the muscle which is called dystrophin. Dystrophin is a large protein in the body encoded by a large gene in the genome, and we know that absence of that gene or dysfunction of that gene lead to less or altered dystrophin in the muscles. Dystrophin is the protein that helps keep the muscles intact and helps the muscles to contract and be used. When a patient has muscular dystrophy, that dystrophin protein is missing or altered, so the protein in the muscle and throughout the body are missing or altered, and this leads to the progressive weakness or muscle degeneration that we see.

Melanie: In Duchenne’s, what might parents notice at the beginning? Is this something that, as I said, comes with birth or is it something you notice once you start noticing developmental or motor delays?

Dr. Scharf: Right, great question. Yes, the muscular dystrophy present at birth is part of the genetic makeup of the child and so it has been there all along. However, oftentimes, it is not picked up until early childhood. The more common story that I see is a little boy who’s brought into the office with a history of falling frequently or being a clumsy child, or having delayed walking, all those types of symptoms that oftentimes will present in our office – being a little bit weaker, having low muscle tone, and this onset of weakness is usually noticed somewhere between two and five years of age. Sometimes, families will notice even earlier and sometimes children don’t present to my office until six, seven years of age. The most common, I would say, is somewhere between two and five years of age. This disease affects primarily boys, but it can be seen in girls in rare cases. Children usually have muscle weakness that first affects the proximal muscles, meaning the muscles that are closest to the body of the trunk. These would be the hips, the pelvis, the thighs, and the shoulders. Calf muscles are usually enlarged and so sometimes someone will pick up on that in the child. Again, these children will be the ones who have difficulty climbing stairs, difficulty with strength involving their legs and arms. By the teenage years, the heart and the respiratory muscles are often affected, and so sometimes children will then present with difficulty with breathing or difficulty with endurance due to their heart muscle. 

Melanie: Now when somebody is diagnosed with muscular dystrophy, and the parents are probably quite scared at that point and picturing the worst outcomes, tell us a little bit about treatment options. What do you do for the patients? Do you manage the symptoms? Do you deal with the chronic complications that might end up? What do you do for them?

Dr. Scharf: Currently, we do a lot of treating the symptoms of muscular dystrophy to the best of our ability. We manage muscular dystrophy through a variety of specialties. The first line is therapy. Children benefit from physical therapy to keep their muscles in use, to keep them active, to keep stretching their joints so they don’t get contractures. They also benefit from occupational therapy which helps with adaptive and daily living skills. It can allow them to continue to move around, to get in and out of their bed, to get through the house in order to feed themselves. All those things are things that an occupational therapist would work on with the child. Children with muscular dystrophy also sometimes have delays in their language or their cognitive ability, and so speech and language therapy can be very helpful in helping with communication, as well as in terms of feeding. We certainly benefit from having them in our team. Pulmonary specialists are also very important in treating muscular dystrophy. They help monitor the children’s lung functions and to keep their lungs functioning at best possible. The children will have pulmonary function test at each clinic visit to keep an eye on how their lungs are functioning, and sometimes we’ll give medications or different lung exercises to keep the lungs as healthy as we can. Next, children see cardiologist to monitor their heart function. This dystrophin is a protein that’s also found in the heart muscle, and so we keep a close eye on the children’s heart functions and then are able to provide treatments as needed, if there’s any difficulty with the function of the heart. Next, children will see the orthopedic team, and that’s very important to assess for things like scoliosis, contractures in the ankle joints, fractures, and they will provide treatment when necessary. Currently, the medication that we use for muscular dystrophy is prednisone. It’s a medication that has been shown in many, many studies to allow boys to walk longer, use muscles for several years longer. So it really has shown to be a life-sustaining medication that allows for functions for several more years in many boys. The Muscular Dystrophy Association and other groups are actively involved in research and development for new drugs to treat muscular dystrophy. I’m really excited about that. I’m thankful to the Muscular Dystrophy Association and the NIH and everyone else who funds research in muscle disorders. I think it’s so important and it’s so needed. We need many more medications to help treat children with muscular dystrophy.

Melanie: Tell us how these children grow. What happens as they grow – the changes that parents can look toward? And while you’re speaking about that—you mentioned the Muscular Dystrophy Association—tell us what research is going on out there.

Dr. Scharf: Sure. Over time, we follow children in our clinic and we keep an eye on many things including how they’re growing and developing and learning and thriving. Are they able to do everything they’re supposed to do throughout their day, the things that kids do? Are they able to play and go to school, or be part of their families? We monitor things closely to see if we can provide any help or any assistance to allow those things to happen on a daily basis. A lot of times, we’ll see that children will continue to make good developmental progress through those first two years of childhood. Sometimes, often around five, six, seven, we’ll see a little bit of plateau in skills where children aren’t able to continue to learn new motor skills and sometimes begin to lose some skills. Usually, somehow around that time is when some things become harder like running, jumping, walking, and so that’s often when we treat this prednisone, if we haven’t been already, to try to prolong some of the muscle function that we have. And then, we often do need some aids for mobility. Sometimes, children need to use crutches or walkers or wheelchairs to enable mobility, and those can be really helpful things. I think using a wheelchair to enable a child to go out and be in the park and go to school is really great. It allows them to participate in the community so much better, and I think those things are very important. We try to keep an eye on what equipment would be most helpful for each child and how we can help them function to their fullest. The Muscular Dystrophy Association is doing new research into different types of medication that can be used in order to treat muscular dystrophy. Some of these target the gene particularly. Some target the dystrophin protein, seeing if they can make that stronger or replace that within the muscle. And some come about trying to make other parts of the muscle function better, so that it can account for that lack of dystrophin in the muscle. And all of these things, I think, have some promise in terms of what will be able to be helped. There are trials going on for some early-phase medication, which I’m very hopeful will soon to be somewhat effective for this children, because we certainly need a lot more medication options than we currently have for children with muscular dystrophy. So I encourage everybody to support the Muscular Dystrophy Association, or just medical research in general. I think it’s very needed.

Melanie: Thank you so much. And, Dr. Rebecca Scharf, tell us why patients and families should come to UVA Children’s Hospital for their care.

Dr. Scharf: Sure. Here at UVA, we have a multidisciplinary clinic to help care for children who have muscle disorders. We have recently opened the new UVA Children’s Battle Building, and that’s where our clinic is located. So when children come for their appointment to the Battle Building, they’re able to see first the developmental pediatrician and we’re the ones who take responsibility for overseeing the medical care as well as to be sure that children are receiving the therapies and the services that they need in their communities. We’re the ones who monitor the children’s developmental progress. We monitor their growth to make sure that’s going well, and we keep an eye on their learning over time to see if they’re receiving all that they possibly can in school. At UVA’s Battle Building, the children are also able to see physical therapists, occupational therapists, speech-language pathologists, and our therapy area has a gym, which are a fun way for children to connect with our therapist and sometimes develop plans for therapies back in their neighborhoods or schools, as well. We also have evaluations for the equipment needs that children have and they can come to equipment clinic and try out various pieces of equipment to see which would be best for them. We also have orthopedic surgery in that clinic and Dr. [Evan] did a wonderful job of caring for our children’s orthopedic needs. We’re very thankful to have that all-in-one place. When children come to clinic, they are also able to get their pulmonary function test done at that visit, so we can keep an eye on their lung function, and pulmonology as well cardiology are also in our Battle Building. Therefore, children could see those specialists if needed on the same day and monitor their heart and their lung function.
In addition, we have nutritionists in the clinic. They often help us with monitoring growth and providing some good input for healthy diet and exercise for our children. We also have endocrinology and a fitness clinic, which is a wonderful resource to have for children. Oftentimes, one side effect of prednisone is weight gain, so children can be monitored with our fitness clinic and our nutritionist to see how well they’re doing them. We also have teachers in this clinic who help us with education and interfacing with the children’s schools so we can make sure that they’re receiving the appropriate services in school and so we can communicate with schools about how this is going on, like is there anything we can do to support this child being able to participate fully in school, which has been wonderful. And we also have members from our Department of Neurology who come to this clinic and have been helping manage some of the other neurological symptoms that children may have, such as headaches or seizures, which not all children with muscular dystrophy have, but when they do, it’s nice to be able to have neurology there. Some of them are neuromuscular specialists who have been coming, which has been wonderful. We work together and care as best as we can for these children. So, I find the UVA Children’s Hospital Battle Building to be a great place to work as a team and be able to care for a child in a very multidisciplinary setting, which has been helpful for me and helpful for, more importantly, the patients to be able to receive a more comprehensive care.

Melanie: Thank you so much, Dr. Scharf. What a wonderful approach for patients with muscular dystrophy and their families. You’re listening to UVA Health System Radio. For more information, you can go to uvahealth.com. That’s uvahealth.com. This is Melanie Cole. Thank you so much for listening.