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. 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. 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.

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, electromyogramsgenetic tests and other diagnostic tools can be used to determine if a patient has SMA. 

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.