Epidemiology of spinal muscular atrophy caused by SMN1 deletions in Maritime Canada

Abstract

AbstractSpinal muscular atrophy (SMA), caused primarily by deletions in SMN1, leads to progressive loss of lower motor neurons. Newborn screening for SMA is under consideration for the Maritime Newborn Screening Program. The incidence of this disease has not been explored in Maritime Canada which includes the provinces of Nova Scotia (NS), New Brunswick (NB), and Prince Edward Island (PEI). In this retrospective chart review, patients were identified from the IWK Clinical Genomics Lab and Maritime Medical Genetics Service databases for SMN1 genetic testing between 2000 and 2020. The incidence of SMA in Maritime Canada was 1:11,900. Among patients born between 2000 and 2020, NB and PEI had lower proportions of type 1 SMA (12% and 0%, respectively) when compared to NS (50%). The majority of type 1 patients had 2 copies of SMN2, the majority of type 2 patients had 3 copies, and the majority of type 3 patients had 4 copies. There was a delay to molecular diagnosis for all subtypes, longest in type 3. This study provides the best available SMA epidemiology in Maritime Canada and expands our understanding of the pattern of disease severity relative to SMN2 copy number in this region.