Illinois Department of
Public Health Expands Newborn Screening
Spinal Muscular Atrophy added as
the 49th disorder
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[July 01, 2020]
Beginning today, June 29, 2020, the Illinois Department of Public Health
will test every baby born in Illinois for Spinal Muscular Atrophy (SMA).
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SMA is a group of hereditary diseases that progressively destroys
motor neurons—nerve cells in the brain stem and spinal cord that
control essential activities such as speaking, walking, breathing,
and swallowing, leading to muscle weakness and atrophy. When there
are disruptions in the signals between motor neurons and muscles,
the muscles gradually weaken and begin wasting away.
“Spinal Muscular Atrophy is a disease that robs people of physical
strength, including the ability to walk, eat, or breathe,” said IDPH
Director Dr. Ngozi Ezike. “It is the number one genetic cause of
death for infants. Early diagnosis of babies with SMA can lead to
potentially life-saving interventions. By screening every baby born
in Illinois, we hope to identify cases early so therapy can begin as
soon as possible.”
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SMA affects approximately 1 in 11,000 births. Beginning therapy as
early as possible is the only way to prevent this motor neuron loss.
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For babies identified through newborn screening, treatment should begin even
before the infant shows symptoms of SMA.
Currently, there are several FDA-approved treatments for SMA, and another six
treatments are being tested in clinical trials.
Spinal muscular atrophy (SMA) was added to the federal Recommended Uniform
Screening Panel (RUSP) for newborn screening in 2018. Evidence has shown that
early diagnosis and treatment leads to better outcomes.
Implementing SMA screening required IDPH to purchase new equipment, develop new
test methods, obtain Clinical Lab Improvement Amendments test validation, and
modify computer systems to provide laboratory results and facilitate follow up
tracking.
Additional information can be found on the dph.illinois.gov website.
[Illinois Office of Communication and
Information] |