The importance of SMA screening tests in newborns – review

• DOI: 10.12775/jehs.2022.12.07.086
• Publication Date: 2022-08-02T10:36:45Z
• Authors: Barbara Rusinowska
• Keywords: SMN1; Neuromuscular disease

Spinal Muscular Atrophy (SMA) is an autosomal recessive neuromuscular disease caused by the loss of alfa motor neurons occuring with a frequency 1 11000 births. It leads to muscular weakness and cause high rate mortality in children. 95% cases SMA are homozygous deletion SMN1 which identified as disease-determining gene. The number copies SMN2 determines phenotype disease. Screening tests for can detect 95-98% mutations SMN1, but cannot point mutations. genetic characterized sensitivity specificity, they inexpensive therefore be used on large scale. Generally DNA isolated from dry blood spot then subjected PCR analysis. copy determined using MLPA technique. allow diagnosis even before onset symptoms. Numerous scientific studies show that early treatment most patients detected allows better neuromotor development beneficial effects therapy visible treated pre-symptomatically - this only possible thanks use screening tests. In review we present importance newborns according latest reports.