Perspectives and Diagnostic Considerations for Spinal Muscular Atrophy (SMA)
Description: Tom Prior, PhD, Professor of Pathology and Neurology at the Ohio State University, discusses the pathogenesis and clinical presentation of SMA, the leading genetic cause of infant mortality and second most common fatal autosomal recessive disorder in the US, as well as the role of genetic assays in carrier screening and diagnostic settings.
o Discuss the prevalence, characteristic symptoms, diagnosis and outcomes associated with recognized types of SMA
o Communicate current guidelines and clinical best practices, and the benefits and potential limitations of SMA carrier screening
o Describe the role of the SMN2 gene as a prognostic indicator for SMA disease severity