LAUSR

Abstract Tay-Sachs disease (TSD) is a neurodegenerative disease that is caused by mutations in the HEXA gene. These mutation cause low or absent activity of the enzyme beta-hexosaminidase A which leads to GM2 build up in brain and spinal cells causing muscle weakness, regression of milestones, and difficulty with mobility. There are three forms of TSD: infantile, juvenile, and late onset/adult form. This inherited genetic disorder is autosomal recessive and most frequently seen in Ashkenazi Jewish, Old Order Amish, and Cajun populations. It is important for people at high risk for TSD to get genetic counseling/and or screening. There is no cure for TSD, treatment focuses on alleviating symptoms of the disease.