Without treatment, spinal muscular atrophy (SMA) is the top cause of infant or child mortality before age 2. As a result, early detection is crucial in improving patient outcomes. But did you know that not every U.S. state screens for SMA in the typical newborn panel? In fact, only about 50% of states currently do.
As of this morning, Illinois is one of the 25 states that screen for SMA at birth, according to WTTW. So let’s take a look at why screening is so important, and what this means moving forward.
Illinois’ Screening Procedures
Following birth, newborns are screened for a variety of conditions from sickle cell disease to cystic fibrosis to phenylketonuria. This screening detects potential disorders before symptoms appear, allowing for early treatment.
For babies with SMA, loss of motor function is irreversible by the time symptoms appear. But screening will open the doors to treatment before the condition progresses, increasing quality of life and survival rates.
In this case, doctors will determine whether newborns have the Survival Motor Neuron 1 (SMN1) gene. If they don’t, or observe a genetic mutation, the newborn will be referred to specialists. Says Dr. Mary Schroth, CMO of Cure SMA:
“A positive screen for SMA is an emergency because we have these treatments that make life-changing difference.”
Families with a positive screen should begin one of two FDA-approved treatments within 2 weeks of diagnosis. Hopefully, this new screening policy will catch 95% of new cases in Illinois: about 13 babies each year.
Cure SMA hopes that, by the end of 2020, 70% of babies will be screened for SMA across the United States. In the upcoming months, California, Iowa, North Dakota, and Rhode Island will also begin screening.
Spinal Muscular Atrophy (SMA)
Spinal muscular atrophy (SMA) is a rare genetic disorder. Most cases result from SMN1 gene mutations, which cause motor neuron damage and loss. About 1 in every 11,000 infants have SMA. It is characterized by muscle weakness and atrophy that worsens over time. Currently, there are 4 main subtypes, each with their own names and symptoms.
Type I (Werdnig-Hoffman Disease)
Werdnig-Hoffman disease (SMA1) is a common, but still severe, form of spinal muscular atrophy that is generally diagnosed within a few months of birth. Although children are often alert, they experience developmental delays, difficulty swallowing and breathing, progressive muscle weakness, poor muscle tone, and an inability to independently sit or lift their head. Most patients do not live past early childhood.
Type II SMA
Progressive muscle weakness develops between 6-12 months old. Unlike infants with Werdnig-Hoffman disease, infants with Type II spinal muscular atrophy can sit independently. However, they can generally not stand or walk without help. Other symptoms include tremors, scoliosis, and respiratory failure. Life span varies, but patients with this subtype can live into their twenties or thirties.
Type III (Kugelberg-Welander Syndrome)
Kugelberg-Welander syndrome is a somewhat milder form of this disorder characterized by progressive muscle weakness in early childhood to adolescence. Although individuals may eventually require a wheelchair, they initially are able to stand, walk, and climb stairs without help. Kugelberg-Welander syndrome does not impact life expectancy.
Type IV SMA
This is an extremely rare form of spinal muscular atrophy that refers to muscle weakness, respiratory distress, tremors, and twitching that don’t begin until adulthood.
Learn more about SMA.