The Newborn Screening Quality Assurance Program (NSQAP) offers dried blood spot materials that are similar to those collected from newborns with SMA. Ensuring the Accuracy of SMA Newborn Screening.The Newborn Screening and Molecular Biology Branch at CDC helps states implement and enhance the detection of SMA and improve the health and lives of newborns in a few key ways. How CDC supports states in efforts to screen for SMA As a result, when a baby has more than three copies of SMN2, SMA will likely develop later in life and typically in a milder form. SMN2 also produces SMN protein but in smaller quantities that will not compensate for the amount missing due to the abnormal SMN1. If the SMN1 gene is found to be abnormal, either the public health laboratory or a clinical laboratory will do further studies to identify the number of copies of the SMN2 gene. To detect SMA, laboratorians perform a test to determine if the gene segment that causes SMA is missing. In routine newborn screening, state public health laboratories use dried blood spots collected from a baby’s heel within the first 24-48 hours of birth to detect genetic disorders including SMA. How do newborn screening programs detect SMA? Without early treatment, SMA can also result in premature death. SMA can affect a baby’s ability to swallow, breathe, sit, and walk. Typically, the earlier the onset of the disease, the more severe the symptoms. There are different levels of SMA severity. Without enough SMN protein, motor neurons will degenerate, causing progressive loss of controlled muscle movement. SMN1 is primarily responsible for making survival motor neuron (SMN) protein, which is required for maintaining normal, motor neuron function. Most cases of SMA occur when a segment of a gene called SMN1 is missing, resulting in the gene being unable to make protein. ![]() ![]() Spinal Muscular Atrophy (SMA) is a genetic disorder that affects approximately 1 out of every 10,000 people.
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