SMA: REGISTRIES, BIOMARKERS & OUTCOME MEASURES: P. 189 Diverse cohort of spinraza-treated spinal muscular atrophy patients at Mayo Clinic Rochester for theranostic biomarker discovery

摘要: Individuals with chronic SMA have a heterogenous presentation. The only scale validated for weak individuals is the CHOPINTEND designed for SMA1 infants. For weaker individuals who have severe contractures, motor assessments are a challenge due to limitations in the ability to transfer or lie prone. With recent developments in treatment for SMA, there is a growing need for a wheelchair based scale for non-sitters. Here, we describe the initial development of a new scale, Adult Test of Neuromuscular Disorders (ATEND), a wheelchair based assessment for older and weaker individuals with SMA. This scale was based on a review of multiple assessments for weaker individuals including: CHOPINTEND, MFM32, RHS, NSAA, PUL2. 0, and EK2. Initial review of the HFMSE, RULM and CHOPATEND revealed a floor effect for both the HFMSE and RULM in SMA confirming the need for a more sensitive scale …