What happens to the body with Tay-Sachs?

What happens to the body with Tay-Sachs?

These fatty substances, called gangliosides, build up to toxic levels in the child’s brain and affect the function of the nerve cells. As the disease progresses, the child loses muscle control. Eventually, this leads to blindness, paralysis and death.

What is Crvo?

Central retinal vein occlusion (CRVO) is a blockage of this vein that causes the vein to leak blood and excess fluid into the retina. This fluid often collects in the area of the retina responsible for central vision called the macula. When the macula is affected, central vision may become blurry.

What is the life expectancy of someone with Tay Sachs disease?

Tay Sachs disease is an autosomal recessive, neurodegenerative disease cause by excessive storage of Gm2 ganglioside withinn cell lysomes. Normal motor function first few months of life following by progressive weakness, starting at 2 to 6 months of age. Life expectancy is 2 to 5 years.

What are the signs of Tay Sachs disease?

Early signs and symptoms of Tay-Sachs disease can include: Loss of muscle tone. Exaggerated response to sudden noises. Lack of energy. Loss of motor skills, such as the ability to roll over, crawl, reach for things or sit up.

What is the prognosis for Tay Sachs disease?

Tay-Sachs disease is a progressive neurodegenerative disorder. The classic infantile form is usually fatal by age 2 or 3 years. Death usually occurs due to intercurrent infection. In the juvenile form, death usually occurs by age 10-15 years; preceded by several years of vegetative state with decerebrate rigidity.

What causes Tay Sachs?

A defective gene on chromosome 15 (HEX-A) causes Tay-Sachs disease. This defective gene causes the body to not make a protein called hexosaminidase A. Without this protein, chemicals called gangliosides build up in nerve cells in the brain, destroying brain cells. The disease is hereditary,…