PCE

Spinal Muscular Atrophy: Improved Recognition and Management of a Rare Disease

Episode Summary

Drs. Julie Parsons and Vanessa Battista discuss the recognition and initial management of spinal muscular atrophy (SMA) at the time of diagnosis.

Episode Notes

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