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

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