Related: The exceptionally rare disease that causes holes to form in your brain The condition is usually caused by mutations in a gene called SMN1, which contains instructions for how to make a ...

A child with a rare genetic disorder — spinal muscular atrophy type I — was treated prenatally for the first time. Courtesy of Jakob Owens  via Unsplash During an amniocentesis test, a long, thin ...

In its most severe form, as in the case of this child, individuals lack both copies of the SMN1 gene, and have only one or two copies of a neighbouring gene, SMN2, that partially compensates for ...