Pathology of Tay Sachs Disease

Mutation of the HEXA gene causes dysfunction of the alpha and beta subunits. In other words, unless the α subunit involved in the degradation of GM 2 ganglioside to GM 3 ganglioside is produced, the hydrolyzate complex can not form a GM 2 activating protein. The damage caused by the accumulation of the toxicity level of the GM2 ganglioside ultimately leads to the destruction of neurons, which leads to the signs and symptoms of Tay-Sachs disease and eventually to death. Progressive neurodegeneration depends on the rate and extent of GM2 ganglioside accumulation, which is directly dependent on the level of β-hydroxyglucosidase A present in the body.

Tessa disease Disease disease is a fatal disease affecting the human nervous system. Tay-Sachs disease is a hereditary disease transmitted from the parent to offspring because there is no protein called hexosaminidase A in the body. Protein hexosaminidase A contributes to chemical degradation of gangliosides and other phospholipids found in nerve tissue. Tay-Sachs disease is caused by defective genes on chromosome 15. According to McKenzie (2009), Tay-Sachs disease is caused by excessive accumulation of ganglioside cell membranes in nerve cells in the brain, resulting in aminohexosaminidase A activity deficient protein. Tay-Sachs disease usually develops when a baby enters the womb, develops rapidly after birth, and dies when that baby is 4-6 years old. In the months after birth, infants with Taza's disease develop more complications and die within 4 to 6 years. The treatment of disease is not known

Juvenile Tay-Sachs disease. Juvenile Tay - Sachs disease is rarer than other forms of Tay - Sachs and is usually seen first in children between 2 and 10 years of age. People with Tay-Sachs disease develop cognitive and motor skills, dysarthria, difficulty swallowing, ataxia, and paralysis. Death usually occurs between 5 and 15 years old. Adult / late-onset Tay-Sachs disease. The rare form of this disease, known as adult onset or delayed onset, is the first symptom in thirties or forties. Contrary to other forms, late-onset Tay - Sachs disease is not usually fatal, as it may result in ineffective progress. It is often misdiagnosed. It is characterized by gait instability and progressive neurological deterioration