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

Spinal Muscular Atrophy or SMA Type 1 is the leading genetic cause of death for infants today. A devastating fact the Villarreal family knows all too well. Their first daughter, Josephine, was diagnosed with SMA Type 1 and passed away at 15 months. 95 percent of babies born with the disease die before their second birthday. SMA rapidly robs babies of their ability to move, talk, swallow and eventually breathe. When Milan and his wife Elena found out they were pregnant with their second child, Evelyn, they prayed for a healthy baby. Unfortunately, that was not the case. Evelyn tested positive for SMA Type 1. Soon after, Evelyn’s family found out about the clinical trial going on at Nationwide Children’s Hospital.

Source: Nationwide Childrens
https://www.youtube.com/watch?v=yRrqbvUv6gQ

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