(Madera, CA) – Valley Children’s recognizes August as Spinal Muscular Atrophy (SMA) Awareness Month to highlight this devastating genetic disease, the number one genetic cause of death for infants.
SMA is a neuromuscular disease that affects the motor nerve cells. It is caused by a deletion or mutation of the survival motor neuron gene 1 (SMN-1), a gene that produces a protein essential for nerve cells to function properly and control muscles. Without the SMN-1 protein, nerve cells become weakened and eventually die, leading to muscle weakness, which is often fatal. This loss of muscle function includes losing the ability to eat, swallow, breath and move, but does not impact cognitive ability.
According to CureSMA, a nonprofit organization supporting the SMA community, SMA affects approximately 1 in 11,000 babies, and about 1 in every 50 Americans is a genetic carrier.
Care for a patient with SMA involves a collaborative team of specialists that help in many different aspects of care, including respiratory support, physical therapy and dietary.
“Many different disciplines work together to help families process this diagnosis and understand the plan of care going forward,” said Dr. Raymund David, Valley Children’s pediatric neurologist and muscular dystrophy clinic lead.
New Advancements Offer Hope
While there is currently no cure for SMA, recent years have seen great advancements in treatment options to help slow the progression of the disease. Until recently, there were no FDA-approved treatments for SMA. But in just the last three years, the FDA has approved two treatments for the condition, the most recent approved this May for children under two years with SMA. More treatments are currently in the clinical trials phase of development.
“It is crucial for children with SMA to be diagnosed as soon as possible,” Dr. David said. “An earlier diagnosis means earlier treatment, and that can make a big difference in the quality of life for the patient because it means that less motor neurons will die, which can slow the progression of the disease.”
Early warning and diagnosis for SMA will soon come in the form of newborn screening, a blood test that all newborns receive before leaving the hospital after delivery. In July 2018, Secretary of Health and Human Services Alex Azar accepted the recommendation to include SMA in the Recommended Uniform Screening Panel, the group of disorders states are recommended to screen for as part of their newborn screening program. California will officially add SMA to its newborn screening program in June 2020.
“Adding SMA to California’s newborn screening program will make a world of difference for children and families diagnosed with the condition,” Dr. David said. “Newborns can be screened before they even leave the hospital and can get treatment quickly, which may decrease the impact the disease has on their developmental milestones and, ultimately, their quality of life.”
To learn more about SMA, visit Valley Children’s Health Encyclopedia, and learn more about how Valley Children’s Neuroscience Center team cares for children with neuromuscular disorders like SMA at valleychildrens.org/neurosciences.