Whereas the content standards will provide the topic of the lesson and what exactly the students should be doing with that topic (e.g., solving problems, creating models, ranking ideas), the English language proficiency or development standards help to identify language skills and functions that students should be working on to achieve academic language fluency.
Tay-Sachs disease is a gangliosidosis characterised by: An exaggerated startle response. Delay in psychomotor development. Hypotonia (followed by spasticity) Visual loss. A macular cherry-red spot. Pathogenesis. Tay-Sachs disease (and its variants) are caused by absence or defects of the alpha subunit of hexosaminidase A.
Mutations in the Tay-Sachs Chromosome. Tay-Sachs disease is caused by mutations in the HEXA gene. More than 95 mutations that cause the disease have been identified.These mutations reduce or eliminate the activity of the enzyme beta-hexosaminidase A, preventing the normal breakdown of GM2 ganglioside in the brain and spinal cord.he Tay-Sachs chromosome is located on chromosome number 15, and is also known as the hexosaminidase A (or HEXA) gene.