MUSC has first Charcot-Marie-Tooth Center of Excellence in South Carolina

The Charcot-Marie-Tooth Association has named Sarah Breevoort, M.D., Ph.D., its newest Center of Excellence. The association’s centers are people, not places, who direct or co-direct CMT clinics. Breevoort leads CMT care at the Medical University of South Carolina.

“I'm very grateful for this recognition. It's something I've been working hard toward. I want people to know that I'm here and this is my area of specialty, and my interest is in these hereditary neuromuscular diseases. There hasn't traditionally been a provider within South Carolina that has this kind of special knowledge and interest that I do,” she said.

Special knowledge is needed for a disease that affects 3 million people around the world but is often mistaken for a dental issue by the public, Breevoort said. The “Tooth” in Charcot-Marie-Tooth disease is actually the last name of one of the scientists who discovered the condition, not a reference to what it affects.

Instead, CMT is “a spectrum of genetic conditions affecting the nerves that connect the brain and spinal cord,” according to the Charcot-Marie-Tooth Association. The progressive disease is usually inherited and can show up early.

 

“Often it starts when a child is tripping at school. They can't run and keep up with their peers. There are changes of the foot, high arches, hammer toes, and that all happens because of this intrinsic breakdown of the nerve and then the loss of nerves applied to the muscle,” Breevoort said.

CMT also affects other parts of the body, including legs, hands and arms. It can cause muscle weakness, numbness, fatigue, severe chronic pain, clawed fingers, scoliosis, disproportionately thin legs and other problems. If it affects the nerves that control automatic body functions, it can also cause sweating and dizziness.

Cleary S. Simpson, vice chair of the CMT Research Foundation and a Charleston-area resident, called the disease complex and difficult to diagnose. “As a Center of Excellence, Dr. Breevoort now has all of the tools to give patients a faster diagnosis. This in combination with the remarkable progress the CMT Research Foundation and CMT Association have made toward finding a potential cure, gives South Carolina and, essentially, all of the southeastern U.S., hope for a future without CMT.”

For now, the disease affects about one in 2,500 people – and sometimes goes undiagnosed for decades. “I had had a gentleman who was 85 years old with quite severe neuropathy,” Breevort said, referring to nerve damage that caused pain.

“He was in a wheelchair and had been told over and over again it was diabetic neuropathy. I sent him to my genetic counselor for testing, and we ended up finding that he has Charcot-Marie-Tooth Type 1, the most common type.”

Getting diagnosed tells patients and doctors what they’re dealing with and can lead to supportive care. “These patients do best when they're in a multidisciplinary care clinic, with a neuromuscular specialist such as me, and then a team of physical therapists, occupational therapists, genetic counselors, access to an orthotist or a prosthetist to help with ankle bracing and things to help with mobility,” Breevoort said. 

“We also have the Neuro Rehab Institute in West Ashley, where many of our patients go for more intensive physical and occupational therapy.”

But what nobody has right now is a cure for CMT. Breevoort said research is underway to try to change that and improve treatments in the meantime. 

“It's really kind of the frontiers of medicine right now, understanding how we can combine genetic therapies with other disease-targeted therapies. Not for CMT just yet, but I feel like we can offer hope for the first time. That's why I want to get people with CMT back into the clinic because I foresee more therapies in the next few years.”

She hopes having a CMT Center of Excellence at MUSC helps raise awareness, not only for people suffering from the condition but also those who are hearing of it for the first time. “Many of my patients feel like they're marginalized, living with this disease that very few people know about. There's just generally a lack of overall knowledge or recognition of some of these rare, hereditary diseases. And that's been something that I've been fighting hard against and trying to change,” Breevoort said.