This talk will review the molecular genetics and clinical components of diagnosing and caring for children and adults with SMA. We will review the natural history of the disease, and how the clear understanding of disease etiology has allowed 2 new FDA therapies to change the landscape of this once deadly disorder.

Source: Ambry Genetics
https://www.youtube.com/watch?v=X9YpaTJOLok

URMC has been tapped as one of the first institutions in the U.S. to offer a new gene replacement therapy to treat spinal muscular atrophy (SMA). Until a few years ago, an SMA diagnosis was tantamount to a death sentence. Learn how this cutting-edge therapy is transforming the lives of patients and their families.

Source: UR Medicine
https://www.youtube.com/watch?v=C5Dl3iMvflU

A Continuing Medical Education Conference presented by the Department of Neurology, Neuromuscular Division at the Stanford University School of Medicine.

Source: Stanford CME
https://www.youtube.com/watch?v=t6UO6bKOxFk

He doesn't know it yet, but baby Iverson is making history. "We've waited so long for this moment," said Justina Roth, Iverson's mom. "It means everything." Iverson is among the first to get gene therapy for Spinal Muscular Atrophy since it was approved by the Food and Drug Administration. The gene transfer is given one time and it will begin to produce a protein that Iverson is missing. "It's one little protein but you need it in order to be able to smile, to suck, to swallow to bend your arms to move your legs," said Anne Connolly, MD with Nationwide Children's Hospital. "When my son rolls over he has to fight for it and as a dad that kills me," said Iverson's dad, Gary Staton, III.

Source: Nationwide Childrens
https://www.youtube.com/watch?v=adc6vztuFhA

Spinal muscular atrophy (SMA) is an inherited, progressive neuromuscular disease that can cause muscle atrophy. SMA begins with a mutation in the survival of motor neuron-1 (SMN1) gene, which leads to a deficiency of SMN protein. This protein is found throughout the body and is essential to the function of nerves that control muscles as well as other tissues in the body.

Source: Genentech
https://www.youtube.com/watch?v=5mI_ZsWkkc4

A Continuing Medical Education Conference presented by the Department of Neurology, Neuromuscular Division at the Stanford University School of Medicine..

Source: Stanford CME
https://www.youtube.com/watch?v=iDwjEON_TlI

Philippa Cheetham, MBChB, MRCS, MD, FRCS, leads a discussion on the long-term management of spinal muscular atrophy, and the importance of genetic testing for individuals with SMA who are planning a family.

Source: Neurology Live
https://www.youtube.com/watch?v=3k8b8kIM-zg