Neuromuscular disorders include a range of diseases from muscular dystrophy to ALS, or Lou Gehrig’s disease.
Learn more about how these diseases affect your body and how they are diagnosed from a UVA neurologist who specializes in neuromuscular disorders.
Selected Podcast
Diagnosing Neuromuscular Disorders
Featured Speaker:
Dr. Kelly Gwathmey
Dr. Kelly Gwathmey is a board-certified neurologist at the UVA Health System who specializes in caring for patients with neuromuscular disorders. Transcription:
Diagnosing Neuromuscular Disorders
Melanie Cole (Host): Neuromuscular disorders include a range of diseases from muscular dystrophy to ALS or Lou Gehrig’s Disease. We’re going to learn today about how these diseases affect your body and how they are diagnosed from a UVA Neurologist who specializes in neuromuscular disorders. My guest is Dr. Kelly Gwathmey. She’s a board-certified neurologist at the UVA Health System who does specialize in caring for patients with neuromuscular disorders. Welcome to the show, Dr. Gwathmey. So what are neuromuscular disorders? For the listeners, what parts of the body do they generally affect?
Dr. Kelly Gwathmey (Guest): Hi Melanie, thanks for having me. Yes, neuromuscular disorders are any neurological disorder that affects the peripheral nervous system, which is pretty much everything outside of the brain and the spinal cord. The neuromuscular conditions can include any disorder that affects the muscle, the nerves, the nerve and muscle junction, the nerve routes as they exit from the spinal cord, or the anterior horn cells, which are the motor nerve cell bodies in the spinal cord. That’s what’s affected in ALS or Lou Gehrig’s Disease.
Melanie: So people hear about these, Dr. Gwathmey, and they are scared. I mean, right off the bat, people think of neuromuscular disorders and they think of losing their abilities to move, to think, to walk. So tell us a little bit about the neuromuscular disorders. What are some common symptoms? People always want to know symptoms in case they need to run to a doctor.
Dr. Gwathmey: Right. So the patients that I see with neuromuscular conditions usually have weakness or numbness. A lot of times they’ll just have burning or tingling in their hands or their feet. Sometimes I see patients with double vision—they see two of everything. And sometimes, patients even develop difficulty swallowing or slurred speech, and sometimes shortness of breath.
Melanie: So if people are experiencing these symptoms and they have them for just a little while, then they come in to see you, what can they expect from testing for a neuromuscular disorder? How do you find out what it is they got?
Dr. Gwathmey: Right. So with any patient, we take a good history, and then we’ll do a very thorough neurological exam. And most of the time, that’s followed by an EMG or electromyography, which is really our main tool that we have to aid in the diagnosis of neuromuscular disorders. The stuff is two parts, and the first part is the nerve conduction studies where what we’ll do is we stimulate over the nerves in the arms and the legs with a little bit of electrical current and we record the responses. And then the second part is the EMG or electromyography, where we use a tiny little needle and we study the muscles in the arms and the legs, and sometimes, in the back muscles as well. So this test helps us diagnose the vast majority of any peripheral nervous system problem.
Melanie: So once you have diagnosed one of these diseases -- and I know we’re talking in very broad terms here, but something like ALS, people hear that, Lou Gehrig’s Disease, and it’s pretty scary-sounding. So what kinds of treatments are out there for general neuromuscular disorders? And you could even pick a few out if you want, like ALS, and give us some of the things that you do for patients to help them, whether it’s symptom management or all-out treatment.
Dr. Gwathmey: Right. So it does vary, depending on the disease, of course. A lot of the patients that I follow have auto-immune conditions, so their immune system is attacking a part of their peripheral nervous system, if it’s the muscles or the nerves, or even the nerve and muscle junctions, such as the Myasthenia gravis. And the good news about these conditions is it does respond very well to immunosuppressant or immunomodulatory therapies, so medications that target the immune system. And those patients, we have a lot of success treating them. Sometimes, in our patients that have neuropathies—so burning, tingling, pain in their feet or numbness in their feet, we can’t identify a treatable or reversible cause. And so then our attention shifts to symptom management so we can treat their symptoms with medications to take away that burning or tingling pain. And then you asked about ALS or Lou Gehrig’s Disease. Right now, there is no cure for that disease. We do have one medication that’s FDA-approved that we treat patients with a pill, and we follow these patients in our multidisciplinary ALS clinic, which is a wonderful clinic that has both physical therapists and occupational therapists. We also have respiratory therapy, nutritionists, physicians like myself and a nurse coordinator. So those patients that require a lot of different things can kind of come to UVA for one-stop shopping, if you will, and see a lot of different practitioners and visit, which is something nice that we have to offer.
Melanie: So with this multidisciplinary approach, whether it’s physical therapy, occupational therapy—and I’m talking about ALS here—so what can they expect? What are, not the outcomes per se, but what are the intended treatment plans for occupational therapy, speech therapy, breathing care, any of these things they might need for ALS?
Dr. Gwathmey: Right. So it’s very nice. So we typically see the patient once every three to four months on average. And again, they’re seen by all these different practitioners. And then we have a team meeting both before the clinic starts and also after the clinic is over to discuss every patient in detail. So we really formulate a plan for the patient as a team, which is something that’s very unique to this multidisciplinary clinic. So the respiratory therapist, for instance, will make recommendations regarding what settings the patient needs for their breathing equipment, whereas the neurologist might make recommendations for how to treat their secretions that they have or their cramping. So we all kind of work together as a team to make sure the patient has everything that they need, and they’re followed very closely by the clinic. And additionally, the nurse coordinator keeps in touch with them on a weekly to monthly basis by phone or email as well to just check in, which is nice.
Melanie: What about sort of support and coping? A disease like this can be devastating to a family and to get that news. What do you say to your patients to give them a little bit of hope through this treatment?
Dr. Gwathmey: Right. It is, of course, a very devastating diagnosis. So here at UVA, we do participate in clinical trials as they become available, and we’re always looking for clinical trials to participate in, specifically for ALS since it is such a devastating disease. For that reason, UVA is a great choice because that will be available to our patients as they come along. Also, I think we really emphasize that we will do everything for the patient as well as the family members to support them through this very difficult time. We have also social workers available in the clinic. We have representatives from the ALS Association and Muscular Dystrophy Association that help provide all the resources that the families need.
Melanie: Okay. So when people are going through this, there’s plenty of multidisciplinary approaches and a lot of coping and support for these neuromuscular disorders. And if you would, just in the last couple of minutes, Dr. Gwathmey, tell us, why should patients with neuromuscular disorders come to UVA for their care?
Dr. Gwathmey: Right. So patients with neuromuscular conditions should come to UVA for many reasons. We have several neuromuscular specialists who have dedicated their careers to studying and treating this patient population. In addition to using EMG now at our lab at UVA, we’re starting to use also nerve and muscle ultrasound, which is painless and non-invasive, to help diagnose some of these disorders. So that’s sort of exciting. And then finally, as I mentioned earlier, we’re participating in a lot of different clinical trials for everything from nerve problems to muscle problems to the nerve and muscle junction problems such as myasthenia gravis. So it’s a very exciting time. We almost always have something new to offer to our patients that maybe have gone somewhere else and sort of exhausted all of their options. We always have something new, a new trick up our sleeves to try.
Melanie: Well, thank you so much, Dr. Kelly Gwathmey, board-certified neurologist at the UVA Health System who specializes in caring for patients with neuromuscular disorders. You’re listening to UVA Health System’s Radio. For more information, you can go to uvahealth.com. This is Melanie Cole. Thanks for listening.
Diagnosing Neuromuscular Disorders
Melanie Cole (Host): Neuromuscular disorders include a range of diseases from muscular dystrophy to ALS or Lou Gehrig’s Disease. We’re going to learn today about how these diseases affect your body and how they are diagnosed from a UVA Neurologist who specializes in neuromuscular disorders. My guest is Dr. Kelly Gwathmey. She’s a board-certified neurologist at the UVA Health System who does specialize in caring for patients with neuromuscular disorders. Welcome to the show, Dr. Gwathmey. So what are neuromuscular disorders? For the listeners, what parts of the body do they generally affect?
Dr. Kelly Gwathmey (Guest): Hi Melanie, thanks for having me. Yes, neuromuscular disorders are any neurological disorder that affects the peripheral nervous system, which is pretty much everything outside of the brain and the spinal cord. The neuromuscular conditions can include any disorder that affects the muscle, the nerves, the nerve and muscle junction, the nerve routes as they exit from the spinal cord, or the anterior horn cells, which are the motor nerve cell bodies in the spinal cord. That’s what’s affected in ALS or Lou Gehrig’s Disease.
Melanie: So people hear about these, Dr. Gwathmey, and they are scared. I mean, right off the bat, people think of neuromuscular disorders and they think of losing their abilities to move, to think, to walk. So tell us a little bit about the neuromuscular disorders. What are some common symptoms? People always want to know symptoms in case they need to run to a doctor.
Dr. Gwathmey: Right. So the patients that I see with neuromuscular conditions usually have weakness or numbness. A lot of times they’ll just have burning or tingling in their hands or their feet. Sometimes I see patients with double vision—they see two of everything. And sometimes, patients even develop difficulty swallowing or slurred speech, and sometimes shortness of breath.
Melanie: So if people are experiencing these symptoms and they have them for just a little while, then they come in to see you, what can they expect from testing for a neuromuscular disorder? How do you find out what it is they got?
Dr. Gwathmey: Right. So with any patient, we take a good history, and then we’ll do a very thorough neurological exam. And most of the time, that’s followed by an EMG or electromyography, which is really our main tool that we have to aid in the diagnosis of neuromuscular disorders. The stuff is two parts, and the first part is the nerve conduction studies where what we’ll do is we stimulate over the nerves in the arms and the legs with a little bit of electrical current and we record the responses. And then the second part is the EMG or electromyography, where we use a tiny little needle and we study the muscles in the arms and the legs, and sometimes, in the back muscles as well. So this test helps us diagnose the vast majority of any peripheral nervous system problem.
Melanie: So once you have diagnosed one of these diseases -- and I know we’re talking in very broad terms here, but something like ALS, people hear that, Lou Gehrig’s Disease, and it’s pretty scary-sounding. So what kinds of treatments are out there for general neuromuscular disorders? And you could even pick a few out if you want, like ALS, and give us some of the things that you do for patients to help them, whether it’s symptom management or all-out treatment.
Dr. Gwathmey: Right. So it does vary, depending on the disease, of course. A lot of the patients that I follow have auto-immune conditions, so their immune system is attacking a part of their peripheral nervous system, if it’s the muscles or the nerves, or even the nerve and muscle junctions, such as the Myasthenia gravis. And the good news about these conditions is it does respond very well to immunosuppressant or immunomodulatory therapies, so medications that target the immune system. And those patients, we have a lot of success treating them. Sometimes, in our patients that have neuropathies—so burning, tingling, pain in their feet or numbness in their feet, we can’t identify a treatable or reversible cause. And so then our attention shifts to symptom management so we can treat their symptoms with medications to take away that burning or tingling pain. And then you asked about ALS or Lou Gehrig’s Disease. Right now, there is no cure for that disease. We do have one medication that’s FDA-approved that we treat patients with a pill, and we follow these patients in our multidisciplinary ALS clinic, which is a wonderful clinic that has both physical therapists and occupational therapists. We also have respiratory therapy, nutritionists, physicians like myself and a nurse coordinator. So those patients that require a lot of different things can kind of come to UVA for one-stop shopping, if you will, and see a lot of different practitioners and visit, which is something nice that we have to offer.
Melanie: So with this multidisciplinary approach, whether it’s physical therapy, occupational therapy—and I’m talking about ALS here—so what can they expect? What are, not the outcomes per se, but what are the intended treatment plans for occupational therapy, speech therapy, breathing care, any of these things they might need for ALS?
Dr. Gwathmey: Right. So it’s very nice. So we typically see the patient once every three to four months on average. And again, they’re seen by all these different practitioners. And then we have a team meeting both before the clinic starts and also after the clinic is over to discuss every patient in detail. So we really formulate a plan for the patient as a team, which is something that’s very unique to this multidisciplinary clinic. So the respiratory therapist, for instance, will make recommendations regarding what settings the patient needs for their breathing equipment, whereas the neurologist might make recommendations for how to treat their secretions that they have or their cramping. So we all kind of work together as a team to make sure the patient has everything that they need, and they’re followed very closely by the clinic. And additionally, the nurse coordinator keeps in touch with them on a weekly to monthly basis by phone or email as well to just check in, which is nice.
Melanie: What about sort of support and coping? A disease like this can be devastating to a family and to get that news. What do you say to your patients to give them a little bit of hope through this treatment?
Dr. Gwathmey: Right. It is, of course, a very devastating diagnosis. So here at UVA, we do participate in clinical trials as they become available, and we’re always looking for clinical trials to participate in, specifically for ALS since it is such a devastating disease. For that reason, UVA is a great choice because that will be available to our patients as they come along. Also, I think we really emphasize that we will do everything for the patient as well as the family members to support them through this very difficult time. We have also social workers available in the clinic. We have representatives from the ALS Association and Muscular Dystrophy Association that help provide all the resources that the families need.
Melanie: Okay. So when people are going through this, there’s plenty of multidisciplinary approaches and a lot of coping and support for these neuromuscular disorders. And if you would, just in the last couple of minutes, Dr. Gwathmey, tell us, why should patients with neuromuscular disorders come to UVA for their care?
Dr. Gwathmey: Right. So patients with neuromuscular conditions should come to UVA for many reasons. We have several neuromuscular specialists who have dedicated their careers to studying and treating this patient population. In addition to using EMG now at our lab at UVA, we’re starting to use also nerve and muscle ultrasound, which is painless and non-invasive, to help diagnose some of these disorders. So that’s sort of exciting. And then finally, as I mentioned earlier, we’re participating in a lot of different clinical trials for everything from nerve problems to muscle problems to the nerve and muscle junction problems such as myasthenia gravis. So it’s a very exciting time. We almost always have something new to offer to our patients that maybe have gone somewhere else and sort of exhausted all of their options. We always have something new, a new trick up our sleeves to try.
Melanie: Well, thank you so much, Dr. Kelly Gwathmey, board-certified neurologist at the UVA Health System who specializes in caring for patients with neuromuscular disorders. You’re listening to UVA Health System’s Radio. For more information, you can go to uvahealth.com. This is Melanie Cole. Thanks for listening.