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Spinal Muscular Atrophy: Improved Recognition and Management of a Rare Disease
PCE
English - April 18, 2023 15:00 - 11 minutes - 11 MB - ★★★★ - 6 ratingsCourses Education Science Life Sciences app education np education podcasts for credit app medicine pa education np medicine pa medicine ce podcasts app podcasts cme podcasts Homepage Download Apple Podcasts Google Podcasts Overcast Castro Pocket Casts RSS feed
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 diseaseDifferences in spinal motor neurons (SMN) 1 and 2 at the time of diagnosis and how these drive severity of diseaseImportant clinical findings in the diagnosis of SMA, as every child may not be identified with newborn screeningThe importance of newborn screening and critical next steps and logistical considerations when receiving a positive screen in your practicePresenters:
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