While newborn screening will catch most cases of spinal muscular atrophy, children who were born prior to the advent of newborn screening can present with symptoms at later ages. In this video, Dr. Crystal Proud, director of neurology at Children’s Hospital of The King’s Daughters, discusses symptoms that warrant a referral to a neuromuscular neurologists and treatment options that are changing lives and history of spinal muscular atrophy.
I'm Crystal Proud. I am a neuromuscular neurologist and the Director of Neurology at the Children's Hospital of the King's Daughters in Norfolk, Virginia. So what's interesting is that um spinal muscular atrophy used to be diagnosed purely based on symptoms. And the classical teaching is an infant who is very floppy and usually that floppiness presents within about 3 to 6 months of them being born. Now, we have a program called the Newborn Screening Program and newborn screening is now detecting most of our patients with spinal muscular atrophy. So every baby born in the state of Virginia, if they are at an institution that participates in newborn screening, which, which should be most or all of them will be screened for S MA in the event that they are identified as having S MA. We are a site of care that they can reach out to. In order to pursue treatment, that treatment may be FDA approved treatment. And there are three of those right now or it may be an opportunity to participate in a clinical research trial with a new therapeutic or an additional therapeutic while most patients now are diagnosed with S MA based on newborn screening, there are still patients that are going to show up as being symptomatic because newborn screening was only implemented within the past couple of years. So our patients who are going to have later onset disease, they're going to really show up at the pediatrician's office as having weakness or being slow to run or tripping and falling and demonstrating a motor deficit, but having cognitive function that is intact, that should really signal that a neuromuscular neurologist should be involved in their care. We have a cognitively socially, verbally typical individual whose muscles are not typical. So there are three treatments that are available currently for the treatment of spinal muscular atrophy. One is sin or Spinraza and that was the first FDA approved treatment. I had the pleasure of participating in the clinical trials when I was in my fellowship at Stanford. And um it has been revolutionary, it has saved thousands of patients lives. In addition, there is a gene transfer therapy that was the second FDA approved treatment for S MA, which is Zolgensma or on Agen AVEC. And that is a one time IV infusion that delivers a functional copy of the gene that the body is missing. And then the third option is an oral agent. So it's an oral liquid that is taken on a daily basis. So these are all different modalities of treatment that all can be used in different patient populations. And it's worth having a discussion with the neuromuscular neurologist um about which one is best for this particular child that's in clinic with us. And so when a child is referred to our S MA center, we go over each of those treatment options and um and provide some recommendations and considerations for family so that they can make the choice regarding what they feel is best.