Addressing the Invisible Symptoms of Duchenne Muscular Dystrophy: Mathula Thangarajh, MD, PhD

WATCH TIME: 4 minutes

"We have families who say that transition from preschool to school is challenging. School readiness is one [example of these invisible symptoms]. There is also literature that suggests that academic underperformance is because of their cognitive disability."

Duchenne muscular dystrophy (DMD), caused by various types of mutations within the dystrophin gene, is the most common single gene disorder leading to muscle wasting. Although most affected boys are not intellectually disabled, the risk of cognitive impairment is increased in these patients. Some studies have shown up to 30% of patients have intellectual disability with a full scale intelligence quotient (FSIQ) of less than 70, including around 3.0% of them with severe impairment, represented by FSIQ of less than 50. In addition to the varying degrees of nonprogressing cognitive impairment in patients with DMD, this group also experiences difficulties with communicating and social interaction.

Over the last few decades, there has been an increased interest in the neurodevelopmental dysfunction of the disease. At the 2023 American Association of Neuromuscular and Electrodiagnostic Medicine (AANEM) annual meeting, held November 1-4, in Phoenix, Arizona, Mathula Thangarajh, MD, PhD, gave a talk on “Making Visible the ‘Invisible’,” specifically focusing on the impacts of cognitive disability in DMD. Following her presentation, Thangarajh, an assistant professor in the neuromuscular clinic at Virginia Commonwealth University, sat down with NeurologyLive® to give an overview of her presentation and the need to increase awareness around the cognitive effects of DMD. She spoke on the developmental issues these patients face, as well as the role caregivers play in the multidisciplinary care paradigm of DMD.

Click here for more coverage of AANEM 2023.