Cure SMA distributed the survey from September 19, 2018 through March 11, 2019; 101 responses were obtained. The questionnaire was derived from two previous studies^1,2 distributed to practicing neurologists in 2016 and 2017.

51% correctly identified why functional SMN2 protein cannot completely compensate for SMN1 lack of function. Also, 57% identified the main factor influencing phenotypic severity, and 84% identified the genetic testing requirement for diagnosis. However, 29% of responders correctly identified an atypical differential diagnosis of SMA. Approximately 12% indicated they were moderately to very confident in their ability to manage an SMA patient. Likewise, 20.8% reported they were very to moderately familiar with SMA standard of care.

Amongst those surveyed, there was a wide variance in self-reported confidence in SMA management and familiarity with standard of care. Lack of previous exposure to the SMA population may be a contributor. As the phenotype evolves, the number of patients seeking clinical management will expand. Continuing education may enhance awareness and provider confidence.

1. Funkhouser A, Barnes J, Hwang S, Yong J. (2016, June). Identifying educational needs of pediatric neurologists in diagnosing and managing patients with SMA. Poster session presented at the 20th Annual Spinal Muscular Atrophy Researcher Meeting 2016, Anaheim CA.

2. Maeglin J and Finnegan T. (2018). Assessment of Practice Patterns and Knowledge of Pathophysiology for Spinal Muscular Atrophy Among Neurologists (P2.330). Neurology, 90 (15 Supplement).