This recorded presentation, delivered by Dr. Tahseen Mozaffar at the UCB-sponsored Industry Forum during the MDA 2024 Conference, explores how mitochondrial myopathies, particularly thymidine kinase 2 deficiency (TK2d), can closely mimic common neuromuscular diseases, leading to delayed diagnosis. Through a real patient case, the presenter highlights key clinical clues, characteristic pathology, and the central role of genetic testing in identifying TK2d. The session emphasizes the importance of early recognition to improve disease monitoring, counseling, and future therapeutic opportunities.
For US Healthcare Professionals Only