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Connecticut To Test Newborns for Spinal Muscular Atrophy

January 14, 2020

Connecticut plans to require newborn children be tested for Spinal Muscular Atrophy.

Spinal Muscular Atrophy is a rare genetic disorder occurring in about one in 11,000 Connecticut residents. The rare condition may lead to muscle and nerve control loss. It also results in fatalities.

“This is a huge step forward for public health in Connecticut,” Department of Public Health Commissioner Renée D. Coleman-Mitchell told WRAL. “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.”

The initial test for the disorder is a blood test, according to the Cleveland Clinic. However, doctors can also perform a muscle biopsy or conduct an electrical study (electromyography) to confirm the diagnosis.

There is no cure for the disease, but detecting it allows for better management of symptoms, according to WRAL.

Connecticut’s state legislature passed the requirement in 2019. It goes into effect this month.



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