Minnesota adds Spinal Muscular Atrophy to newborn screening pane - KTTC Rochester, Austin, Mason City News, Weather and Sports

Minnesota adds Spinal Muscular Atrophy to newborn screening panel

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ROCHESTER, Minn. (KTTC) -

Spinal Muscular Atrophy is among a new list of disorders now detectable by newborn screening as a result of updates in technology that have helped Minnesota be among the leaders in the country.

According to the Minnesota Department of Health SMA is a treatable disease, but if left untreated it can cause muscle weakness, babies cannot sit, swallow or breathe, and it can cause death.

"In general, statistically speaking, they are expecting maybe seven babies born with SMA in the whole state of Minnesota," said Dr. Duygu Selcen, who specializes in Pediatric Neurology at Mayo Clinic

SMA affects as many as one in very 6,000 live births each year in the U.S., and although it may be rare, it is lethal.

"The nerves degenerate. And so the patients develop muscle weakness, and that can also affect their respiratory muscle function and swallowing. And it also decreases the lifespan of many patients," said Dr. Selcen.

To help protect those little bundles of joy, Minnesota has begun universal screening of newborn babies for SMA, starting March 1, adding it to the screening panel for 60 conditions.

The addition will help identify children with SMA earlier, preventing health problems and death. All babies born in Minnesota are now being screened for the treatable disease, unless their parents opt out of the screening. 

Until recently, families of children diagnosed with SMA had little hope, and available treatments were merely supportive.

"Just end of 2016, FDA approved a medication called Nusinersen," said Dr. Selcen. "And we know that it changes how the patients are after the treatment is started."

Dr. Selcen said there is also a clinical trial of gene therapy, which so far gives promising results.

She also said the key is to treat it before babies start showing symptoms, which is why the screening is so helpful.
 

Mayo Clinic is one of 3 places able and ready to conduct the screening.The other two places are the Minnesota Specialty Centers and the University of Minnesota Masonic Children's Hospital.
 

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