Peer Exchange

  

Advances in the Treatment of Spinal Muscular Atrophy


Crystal Proud, MD, leads a discussion on spinal muscular atrophy, including the signs and symptoms that lead to diagnosis.

Nancy L. Kuntz, MD, outlines the historical phenotypes for spinal muscular atrophy and explains that there is a spectrum of disease within these categories. 

Experts discuss the importance of newborn screening for spinal muscular atrophy and how it is mandated differently across states.

John Brandsema, MD, offers insight on prenatal tests and genetic testing for the SMN1 and SMN2 genes. The SMN2 copy number is the best prognostic marker. 

Expert neurologists detail some motor evaluation tools for spinal muscular atrophy, including the CHOP INTEND, Hammersmith, and Bayley tests. The use of these tools varies depending the on the patient population.

Key opinion leaders stress the importance of educating primary care physicians on the diagnosis of spinal muscular atrophy to help to decrease the delay in diagnosis.
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