Congenital spinal muscular atrophy has a sad history of more than a century as an incurable progressive genetic disease. The change came in the 20th century with the discovery ol the gene defect primarily responsible for the disease. Today, we have even more inlormation on how other genetic and non-genetic factors influence the severity of this disease. ln this publication, we briefly report on these recent findings.  Kulcsszavak: genetics, gene therapy, mutation, homozygous deletion of the SMNl gene, spinal muscular atrophy