PerkinElmer, Waltham, Mass, has joined the European Alliance for Newborn Screening in Spinal Muscular Atrophy, also known as the SMA NBS Alliance. Founded by SMA Europe—an umbrella organization that brings together 21 patient and research organizations focused on spinal muscular atrophy (SMA) from 20 countries across Europe—the SMA NBS Alliance has two primary objectives: to decrease the time it takes for a child born with SMA to be diagnosed through newborn screening (NBS), and to assist patient advocacy groups in their efforts to accelerate the identification of such children, given that early diagnosis and treatment lead to better outcomes.
SMA is a rare, progressive, neuromuscular disease that leads to immobility and results in a short life expectancy for many children diagnosed with the condition. NBS offers healthcare providers an opportunity to diagnose and treat children with SMA before motor neuron destruction occurs, giving children affected by this condition the best possible quality of life.
The SMA NBS Alliance demands that by 2025, NBS programs in Europe include a test for SMA for all newborn children. Working toward this goal, Alliance members take part in a variety of activities and are responsible for organizing events in their respective countries to request that health regulators evaluate adding SMA to newborn screening panels.
The incidence of SMA is approximately 1 in 10,000 live births and it is one of the leading genetic causes of infant death worldwide. Diagnosing SMA quickly is crucial to stopping progression of the disease, which robs infants of valuable motor neurons that allow them to walk, sit and even breathe. Early detection and diagnosis may mean the difference between life and death for an infant with a severe form of SMA.
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