In this episode, Julie Parsons, MD, discusses the genetic diagnosis of spinal muscular atrophy (SMA), anticipated clinical findings, the importance of newborn screenings, and the next steps to consider after a positive diagnosis is obtained. This high-level overview includes:

• SMA as an autosomal recessive disease
• Differences in spinal motor neurons (SMN) 1 and 2 at the time of diagnosis and how these drive severity of disease
• Important clinical findings in the diagnosis of SMA, as every child may not be identified with newborn screening
• The importance of newborn screening and critical next steps and logistical considerations when receiving a positive screen in your practice

Presenters:

Julie Parsons, MD
Co-Director, Neuromuscular Clinic
Haberfeld Family Endowed Chair in Pediatric Neuromuscular Disorders
Professor of Clinical Pediatrics and Neurology
Children’s Hospital Colorado
Denver, Colorado

Vanessa Battista, DNP, MBA, RN, MS, CPNP-PC, CHPPN, FPCN
Senior Director of Nursing, Palliative Care
Psychosocial Oncology and Palliative Care
Dana-Farber Cancer Institute
Boston, Massachusetts 

Supported by an educational grant from Biogen

Link to full program: 
bit.ly/41kw2dK

Link to CME: Claim credit - 
bit.ly/40eyBwr