Juan Francisco Vazquez Costa, MD, PhD

In this segment, the panel discussed adult-onset 5q spinal muscular atrophy (SMA), highlighting its frequent underdiagnosis and subtle symptoms such as cramps, fasciculations, and sports intolerance.

The discussion highlighted the need for national or local protocols, insurance approvals, and close collaboration with families to optimize patient outcomes.

In this discussion, experts provide key considerations in the process of newborn screening for SMA, noting the need for developing local protocols and understanding the limitations of screening infants early in life.

In this episode, experts discuss groundbreaking updates in spinal muscular atrophy diagnosis, emphasizing the importance of early intervention and newborn screening.

In this episode, our panel of experts delves into the latest updates on spinal muscular atrophy diagnosis, focusing on the critical role of newborn screening, early intervention, and evolving classification methods for improved patient outcomes.