Pediatric Spinal Muscular Atrophy (SMA)

Spinal muscular atrophy (SMA) is a genetic disease that affects the spinal cord and nerves, resulting in muscle wasting and weakness. It is a rare genetic neuromuscular disease that affects a child’s ability to move, breathe, and swallow. But SMA has no effect on a child’s ability to think, learn, or make friends.

SMA is an autosomal recessive disease. This means that both males and females are equally affected and that two copies of the gene, one inherited from each parent, are necessary to have the condition. If both parents are carriers, there is a 25 percent chance the child will have the condition. Unfortunately, it is quite difficult to obtain genetic testing to check for carrier status unless another child has been diagnosed with SMA.

Our team is experienced in treating children with all types of the disease. Though there is no cure for SMA, there are ways to assist patients with breathing and nutrition that can help manage the condition. There have also been recent medical breakthroughs that have vastly improved the management of the disease.

The Pediatric Neuromuscular Diseases Clinic uses the most advanced technologies available to diagnose SMA, which can be difficult because the disease’s symptoms often mimic other conditions. Blood tests, muscle biopsies, electromyograms, genetic tests and other diagnostic tools can be used to determine if a patient has SMA. 

At Lucile Packard Children’s Hospital Stanford, our world-renowned Pediatric Neuromuscular Diseases Clinic offers the best possible treatment for SMA. Our team includes the following:

Because our specialists are so active in developing new ways to understand and treat neuromuscular conditions, including SMA, they have the knowledge, expertise, and access necessary to provide the most cutting-edge tools available for your child.

We are proud to have participated in clinical trials of the revolutionary genetic treatments now used to control SMA: nusinersen (Spinraza) and onasemnogene abeparvovec-xioi (Zolgensma). There is no cure for SMA, but these drug therapies can dramatically limit the impact of the disease. For example, Spinraza—which we have used here at Stanford Children’s Health—is the only drug on the market used to treat the condition, and it has allowed some children with SMA to vastly extend and improve their life.

Although SMA occurs in a small percentage of the population (1 in 10,000), it can have devastating effects on those individuals. If your child has been diagnosed with SMA, it is crucial that you seek care immediately.

In June 2020, the California Department of Public Health added SMA to its panel of screening tests carried out on all newborn babies. This will help identify affected children early, before they develop symptoms, so they can get essential treatment immediately. If your pediatrician has told you that your child has SMA, contact us at (650) 723-0993. We will reach out to you and schedule an appointment with our neuromuscular team as soon as possible, either in our clinic or with a video visit.