Tay-Sachs Disease also known as GM2 gangliosidosis, is a fatal autosomal recessive disorder caused by the HexA gene found on chromosome 15. The deficiency in the lysosomal enzyme hexosaminidase A (HexA) results in decreased degradation in GM2 gangliosides or fatty acids within nerve cell lysosomes. This build up results in toxic levels of GM2 gangliosides in the neurons throughout the body resulting in misshaped neurons and microglial cells. Leading to cystic degeneration of the cerebral white matter, atrophy of the cerebellar hemispheres and changes in the spinal cord. This disorder in patients presents in infants between three to six months of ages with noted loss of milestones with an overactive startle response. Other signs and symptoms include hypotonia, hyporeflexia, muscle rigidity, blindness and increased head circumference .
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