SMA is caused by loss or mutation of the SMN1 gene and retention of SMN2. The SMN2 gene copy number correlates with phenotypic severity. However, there are exceptions, with type 3 cases having 2 copies of SMN2 or type 1 cases with 3 copies as well as discordant siblings with the same copy number. With effective therapeutics for SMA early introduction of therapy is important in achieving maximum benefit. Newborn screening is progressing towards implementation but precise prediction of phenotype from genotype is critical to optimize timing of treatment.

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