NeuroFrontiers

Host: Charles Turck, PharmD, BCPS, BCCCP

Guest: Bethany Lussier, MD


Patients often present with respiratory symptoms that don’t quite align with typical pulmonary findings. So what clues should raise our suspicion that something beyond primary lung disease might be driving their condition? Joining Dr. Charles Turck to talk about the pulmonologist’s role in identifying respiratory manifestations of thymidine kinase 2 deficiency (TK2d) is Dr. Bethany Lussier. She shares the hallmark features to look out for, like orthopnea and hypoventilation, as well as best practices for using pulmonary function testing and inspiratory pressure measures to distinguish muscle weakness from primary lung disease. Dr. Lussier is an Associate Professor of Internal Medicine at UT Southwestern Medical Center in Dallas, where she's also a member of the Division of Pulmonary and Critical Care Medicine.

Host: Alexandria May, PharmD, BCPS

Guest: Kaitlin Batley, MD


Fatigue and muscle weakness may seem routine, but when do they signal an underlying condition like thymidine kinase 2 deficiency (TK2d)? To find out, Dr. Alexandria May speaks with Dr. Kaitlin Batley, Director of the Pediatric Neuromuscular Program at Children’s Health and an Assistant Professor of Pediatrics and Neurology at UT Southwestern Medical Center. They discuss how multisystem involvement can help distinguish TK2d from more common neuromuscular disorders and how we can achieve diagnostic clarity through advanced genetic testing, metabolic evaluation, and muscle biopsy.

Guest: Henry Kaminski, MD


Myasthenia gravis is an unpredictable condition, with symptoms and treatment responses that can vary widely from one patient to the next. Tune in to hear Dr. Henry Kaminski explain how to navigate this variability and make thoughtful, individualized treatment decisions. Dr. Kaminski is the Meta A. Neumann Professor of the Department of Neurology at The George Washington University School of Medicine and Health Sciences in Washington.

Host: Brian P. McDonough, MD, FAAFP

Guest: Austin Larson, MD


Emerging research on thymidine kinase 2 deficiency (TK2d) provides new insights into its global genetic prevalence and variability across genetic ancestries. By combining clinical literature with large genomic databases, investigators estimated disease incidence using carrier frequency under Hardy-Weinberg assumptions, uncovering significant differences between populations and key pathogenic variants. Joining Dr. Brian McDonough to discuss the findings and their implications for improving diagnostic accuracy and refining genetic testing strategies is Dr. Austin Larson. He's an Associate Professor of Pediatric Clinical Genetics and Metabolism at the University of Colorado Anschutz, and he presented these findings at the 2026 Muscular Dystrophy Association Clinical and Scientific Conference.

Guest: Mark Freedman, HBSc, MSc, MD, CSPQ, FAAN, FRCPC



The role of cell-based therapies in multiple sclerosis (MS) is evolving, with immune system replacement via autologous stem cells, investigational mesenchymal repair strategies, and CAR T-cell approaches changing the treatment landscape. Hear from Dr. Mark Freedman as he dives into current and emerging mechanisms of action, which he also discussed at the 2026 Consortium of Multiple Sclerosis Centers (CMSC) Annual Meeting. Dr. Freedman is a Professor of Medicine in Neurology at the University of Ottawa and a Senior Scientist at the Ottawa Hospital Research Institute.