UK HealthCast: What physicians should know about duchenne muscular dystrophy

UK HealthCast is a podcast series featuring interviews with UK HealthCare experts on a variety of health-related topics.

Duchenne muscular dystrophy (DMD) is a rare but severe genetic disorder, and early recognition can make all the difference in outcomes.

In this episode of UK HealthCast, Dr. David Neil Toupin, a child neurologist at UK HealthCare, discusses what providers should look for, when to refer patients and how modern therapies are changing what it means to live with DMD.

Listen to Dr. Toupin's conversation below or continue reading for key takeaways from the podcast.

Recognizing DMD's early signs

Duchenne muscular dystrophy stems from the mutation of a gene that plays a key role in muscle growth and repair. Dr. Toupin explained that one of the most distinctive signs of DMD is an extremely elevated creatine kinase (CK) level — often in the thousands or even tens of thousands — indicating muscle breakdown.

But before that bloodwork is even drawn, there are other early red flags. “Duchenne is typically associated with a loss of strength over time,” Dr. Toupin said. “Any patient who’s losing strength is a red flag.” Loss of previously attained motor milestones, such as the ability to climb stairs or rise from the floor, is another.

Providers should also look for absent reflexes and specific physical signs like enlarged calves or toe walking.

When to refer patients for DMD

Dr. Toupin emphasized that any child who is losing milestones, motor or developmental, should be referred urgently to a neurologist. Other concerning signs include weakness, difficulty keeping up with peers or frequent muscle cramps. 

At UK HealthCare, children diagnosed with DMD are cared for by a comprehensive multidisciplinary team that includes neurologists, physical medicine and rehabilitation physicians, therapists, endocrinologists, pulmonologists, cardiologists, psychologists, and a nurse navigator who helps coordinate everything.

“We have a really robust care team that does a great job for these patients and their families,” Dr. Toupin said. The goal: make care more accessible, less burdensome, and as seamless as possible.

Communication with referring providers remains a priority. After each multidisciplinary clinic, typically held twice a year, the team prepares a summary document for both the family and the primary care provider. Local therapists are also kept in the loop.

New DMD therapies and a changing outlook

The treatment landscape for Duchenne has evolved dramatically.

“It used to be that only steroids were offered,” Dr. Toupin said. “Now we have different types of steroids with fewer side effects, as well as exon-skipping therapies that prolong muscle strength.”

He also highlighted emerging treatments like histone deacetylase inhibitors — which, when combined with steroids, can improve strength and function — and promising advances in gene therapy and medications aimed at protecting the heart and bones.

Above all, Dr. Toupin wants clinicians to know that the outlook for these children has changed.

“It’s not the disease you learned about in medical school,” Dr. Toupin said. “There is a lot we can offer these patients. The future is bright.”