Late-Onset Tay-Sachs (LOTS) disease presenting with a neuromuscular phenotype – a case series

Abstract

BackgroundTay-Sachs disease is a rare, and often fatal, autosomal recessive, lysosomal storage disease. Deficiency in ß-Hexosaminidase A (HEX A) leads to accumulation of GM ganglioside resulting in neuronal swelling and...