SMA Recognition

CE / CME

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

Physician Assistants/Physician Associates: 0.25 AAPA Category 1 CME credit

Nurse Practitioners: 0.25 Nursing contact hours, includes 0.25 hour of pharmacotherapy credit

Released: April 18, 2023

Expiration: April 17, 2024

Vanessa Battista
Vanessa Battista, DNP, MBA, RN, MS, CPNP-PC, CHPPN, FPCN
Julie Parsons
Julie Parsons, MD

Activity

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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