Matthew Wicklund, MD, on OPMD and Advancements in Genetic Research

This video originally appeared on our sister site, NeurologyLive®.

"While we don’t have definitive treatments yet for OPMD, the hope lies in emerging preclinical research and gene therapies that could one day transform how we manage this disease."

Oculopharyngeal muscular dystrophy (OPMD) constitutes a rare, autosomal dominant disorder. Its symptoms include progressive weakness in muscles controlling eye movement, swallowing, and limb strength. Trinucleotide repeat expansion in the PABPN1 gene are the root cause of the disorder, which typically presents with ptosis, dysphagia, and proximal limb weakness when patients are aged in their 40s or 50s. OPMD remains underdiagnosed despite its recognition, and management of the disease is primarily focused on addressing symptoms instead of the underlying genetic cause.

Matthew Wicklund, MD, a professor of neurology at the University of Texas Health Science Center San Antonio, recently chaired a session on clinical and preclinical advances in OPMD as part of the “Lab to Life Track” at the 2025 Muscular Dystrophy Association (MDA) Clinical & Scientific Conference, held March 16-19, in Dallas, Texas. Guy Rouleau, PhD; Bernard Brais, MDCM, PhD; Jerel Banks, PhD; and Claudia Cote, PhD, were among the other prominent clinicians featured in the session.

In a follow-up conversation with CGTLive®'s sister site NeurologyLive®, Wicklund highlighted promising preclinical research exploring genetic-based therapies, including CRISPR gene editing and RNA silencing techniques. These approaches aim to either repair the mutated gene or prevent the production of the abnormal protein responsible for OPMD. Although these therapies are still in the early stages, they offer hope for more effective treatments in the future. In addition, Wicklund discussed the challenges clinicians face in diagnosing OPMD, noting that because of its late onset and symptom overlap with other neuromuscular disorders, OPMD can often be mistaken for other conditions. As research continues, he stressed the need for targeted, personalized treatment strategies to address the unique needs of each patient.

Click here for more MDA 2025 coverage.