The associate neurologist-in-chief at Boston Children’s Hospital discussed the importance of defining and acting on spinal muscular atrophy in its presymptomatic stages. [WATCH TIME: 4 minutes]
WATCH TIME: 4 minutes
"The ones who have symptoms don’t respond as well as ones who are presymptomatic. They do respond, it’s just not perfect. You can have different deficits."
Over the years, there has been a concerted effort to expand newborn screening in the hopes of identifying babies with serious genetic disorders such as spinal muscular atrophy (SMA) and, hopefully, provide them with an opportunity for early treatment. The term “presymptomatic” describes the state in which an individual has not yet displayed symptoms of the disease or illness but may have underlying presence of disease activity. Recently, the SMA community has learned through research that treating infants in their presymptomatic stage is the most effective way to ensure better long-term outcomes; however, defining presymptomatic SMA remains a challenge.
At the 2022 Cure SMA Clinical & Scientific Conference, June 15-17, in Anaheim, California, Basil Darras, MD, presented a talk on the treatment of presymptomatic SMA, and why we currently have more questions than answers. For the clinical community, in some instances, the definition of presymptomatic SMA has created confusion and misunderstanding. In his presentation, Darras provided insight to this definition, noting several SMA manifestations such as areflexia, hypotonia, tongue fasciculations, swallowing or feeding problems, and much more, that may appear in neonates.
In an interview with NeurologyLive®, Darras, associate neurologist-in-chief, Boston Children’s Hospital, discussed how clinicians currently assess and define presymptomatic SMA, the complexities that come with it, and where there needs to be improvement in clinical care.