Late‐onset Tay−Sachs disease presenting with a neuromuscular phenotype—a case series
Sarah Fullam,
Zara Togher,
Alan Power
et al.
Abstract:Background and purposeTay−Sachs disease is a rare and often fatal, autosomal recessive, lysosomal storage disease. Deficiency in β‐hexosaminidase leads to accumulation of GM2 ganglioside resulting in neuronal swelling and degeneration. Typical onset is in infancy with developmental regression and early death. Late‐onset Tay−Sachs disease (LOTS) is extremely rare, especially in the non‐Ashkenazi Jewish population, and is characterized by a more indolent presentation typically encompassing features of cerebellar… Show more
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