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, MDCo-Director, Neuromuscular ClinicHaberfeld Family Endowed Chair in Pediatric Neuromuscular DisordersProfessor of Clinical Pediatrics and NeurologyChildren’s Hospital ColoradoDenver, ColoradoVanessa Battista, DNP, MBA, RN, MS, CPNP-PC, CHPPN, FPCNSenior Director of Nursing, Palliative CarePsychosocial Oncology and Palliative CareDana-Farber Cancer InstituteBoston, Massachusetts Supported by an educational grant from BiogenLink to full program: bit.ly/41kw2dKLink to CME: Claim credit - bit.ly/40eyBwr  Hosted by Simplecast, an AdsWizz company. See pcm.adswizz.com for information about our collection and use of personal data for advertising.

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