Spinal Muscular Atrophy

Connecticut Now Testing Newborns for Rare Genetic Disorder

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Connecticut’s public health laboratory has begun testing newborn babies for the genetic disorder Spinal Muscular Atrophy, complying with a new state law that took effect on Jan. 1.

The rare condition can lead to loss of nerve and muscle control, and it can ultimately be fatal

“This is a huge step forward for public health in Connecticut,” said Department of Public Health Commissioner Renée D. Coleman-Mitchell. “The ability to screen newborns gives allows the medical community to diagnose a rare and potentially fatal genetic disorder such as Spinal Muscular Atrophy before symptoms are visible. It also gives medical providers an opportunity to recommend the best possible plan of care for families and their children.”

It’s estimated that SMA afflicts one in 11,000 Connecticut residents. State legislation passed in 2019 required DPH to conduct newborn screening for the disorder, which was recently added to the Federal Advisory Committee on Heritable Disorders in Newborns and Children’s Recommended Uniform Screening Panel.

There are different types of SMA. Most children have SMA Type 1, which causes weakness and, without treatment, can deteriorate quickly and lead to death. There is no cure, but new treatments can slow or prevent symptoms from worsening.

Copyright AP - Associated Press
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