Nancy Kuntz MD, from the Northwestern University Feinberg School of Medical, discusses the importance of genetic counseling for a family with a child with spinal muscular atrophy (SMA).
SMA is a rare neuromuscular disorder caused by mutations in the SMN1 gene that leads to the progressive degradation of spinal motor neurons.
As Dr. Kuntz explains in the interview, SMA is an autosomal recessive disorder. Therefore, in order to show symptoms of the disease, the person received two mutant genes from their parents. Furthermore, if both parents are carriers, each new child born will have a 25% chance of developing SMA. Further, there is a 50% chance the child will be a carrier.
To learn more about SMA and obtain a CME credit, visit our complimentary 4-part program on SMA, newborn screening, and genetic counseling at https://checkrare.com/learning-center/p-spinal-muscular-atrophy/
