Neuromuscular disorders include a wide range of complex conditions. They may be inherited or acquired, treatable or nontreatable. They may impact the muscles, nerves or nerve-muscle junctions, and they can present with a variety of symptoms. To effectively manage patients with these diverse disorders, UVA has expanded its team of skilled specialists, offering patients access to greater resources and additional services at clinic locations in and around Charlottesville.
More Providers, Broader Reach
Neurologist Kelly Gwathmey, MD, completed her residency and a clinical neurophysiology fellowship at UVA prior to doing a neuromuscular fellowship at Brigham and Women’s Hospital and Massachusetts General Hospital in Boston. In 2013, Gwathmey returned to UVA, joining division head Lawrence Phillips II, MD, and Ted Burns, MD, as one of three lead providers caring for patients with disorders of the peripheral nervous system, inflammatory myopathies, autoimmune neuropathies, motor neuron diseases and muscular dystrophies.
“At UVA, we have a track record for seeing complicated patients and making difficult diagnoses,” she says.
With the start of a new pediatric neuromuscular clinic at Fontaine Research Park, Gwathmey will provide neurological care to patients ages 2 and up who have a suspected or diagnosed neuromuscular condition. She will also continue to see adult patients at the neuromuscular clinic located in UVA Primary Care Center and the ALS Clinic at Fontaine Research Park.
“When a patient is referred to us, we do a comprehensive assessment,” says Gwathmey. “Patients are prescreened so we know prior to their arrival whether they will require testing in addition to a consultation with one of our providers. A lot of patients travel, so to be able to offer these services the same day is very helpful.”
Another new addition to the neuromuscular team, neurologist Sarah M. Jones, MD, completed her training at UVA and joined the faculty in 2013. With Jones on board, UVA now offers neurology consultations weekly in Crozet at the UVA Family Medicine and Specialty Care Crozet. “We are expanding to where we are needed to give patients easier access to doctors they need,” says Jones.
Expert Care From the Start
Like all UVA neuromuscular specialists, Gwathmey and Jones (pictured left) are fellowship trained in electromyography (EMG), the primary tool used to diagnose neuromuscular conditions. Thus, they may perform a clinical assessment and also conduct the EMG testing. “Because the physician evaluating the patient is ordering and directing the EMG, usually performed on the same day, we can see the results immediately and begin planning further testing and treatment,” says Gwathmey.
“Everybody in our department wears both hats,” says Jones. “This is important because we have an extra set of eyes during testing. We are all fellowship trained — we didn’t learn EMG in a weekend, so we know what we’re dealing with and can make an accurate diagnosis.”
In addition to EMG, Gwathmey says UVA has introduced a new approach to testing that utilizes nerve and muscle ultrasound to help diagnose neuromuscular disorders. “Ultrasound is painless and patients feel like they are participating in the testing because they can see what’s going on,” she says. “It’s especially helpful with entrapment neuropathies like carpal tunnel syndrome because you get more anatomical information with ultrasound.”
Better Treatments and Quality of Life
While UVA has already established itself as a premier center in the treatment of two of the most well known neuromuscular disorders — myasthenia gravis and Amyotrophic Lateral Sclerosis (ALS) — Gwathmey says efforts continue among her peers to advance the care of these and other related disorders. “It’s an exciting time because there are a lot of current clinical trials for neuromuscular diseases,” she says.
There are two open trials evaluating infusion treatments for myasthenia gravis, one study investigating potential blood and urine biomarkers for inflammatory myopathies, as well as a study taking a closer look at a quality-of-life measure in patients with autoimmune neuropathies.
“Our numbers may show that a treatment is working, but what does the patient say? Do they feel better?” says Jones. “When evaluating quality of life, we listen more. There is better communication between the doctor and patient.”
“Having access to studies like these is one of the advantages of being treated at an academic medical center,” adds Gwathmey.
Also an advantage: having easy access to some of the nation’s leading neurology, spine and surgical specialists. “We collaborate across disciplines at UVA,” says Gwathmey. “We work closely with neurosurgeons on a daily basis, as well as occupational, physical and speech therapists, pathologists, genetics counselors and others to provide multidisciplinary care.”
Learn more about diagnosis of neuromuscular disease highlighted in this podcast with Kelly Gwathmey, MD.
Listen to a podcast with Sarah M. Jones, MD for details on EMG testing.