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Charlton Introduces Bill to Add Fatal Genetic Disease to Newborn Screening
HARRISBURG – In an effort to potentially save the lives of newborn children, Rep. Alex Charlton (R-Springfield) introduced legislation, House Bill 2039, that would add spinal muscular atrophy (SMA) to the Pennsylvania newborn screening panel.

“SMA is a genetic disorder that affects the motor nerve cells in the spinal cord,” said Charlton. “SMA can lead to debilitating muscle weakness, along with the inability to perform basic functions, such as walking, eating or breathing.”

Evidence has suggested that newborn screening holds great promise for ensuring access to treatment and helping to move toward a cure for this deadly and devastating disorder.

“Currently, we don’t screen newborn babies for SMA,” added Charlton. “My legislation would make SMA screening mandatory for newborn babies in hopes of detecting the problem early on. Evidence has shown that pre-symptomatic treatment for SMA improves clinical outcomes and potentially saves lives.

“The need for this legislation was brought to my attention by a young constituent of mine, Peter, who has SMA,” added Charlton. “I met Peter in Harrisburg with his mother and several other advocates. Though affected by a serious and debilitating disease, Peter was an incredibly active young man. Peter passed away earlier this year from complications due to SMA. I hope this legislation can serve as a small memorial to Peter and all children who continue to fight and live.”

SMA affects approximately one in 11,000 babies and can affect any race or gender. About one in every 50 people is a genetic carrier for SMA. Because it is an autosomal recessive condition, generally both parents must be carriers for a child to inherit the condition.

“Babies with SMA who receive treatment after an early diagnosis achieve more motor milestones and live longer without permanent respiratory support than babies who did not receive early treatment,” said Charlton. “This legislation could be life-changing for babies born with this genetic disease.”

House Bill 2039 has been referred to the House Health Committee.

Representative Alexander Charlton
165th Legislative District
Pennsylvania House of Representatives

Media Contact: Mike Madry
717.260.6587 /

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