Representative Alexander Charlton

165th Legislative District

Pennsylvania House of Representatives
Media Contact: Mike Madry
717.260.6587
mmadry@pahousegop.com
RepCharlton.com / Facebook.com/RepCharlton

FOR IMMEDIATE RELEASE

June 22, 2018

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.
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