Tay Sachs

Erikson Pepa English 030
November 8, 2010             Essay # 3
Tay-Sachs Syndrome

Birth defects are abnormalities of structure, function or metabolism of the body that are present at birth. There are more than 4,000 birth defects ranging from minor to serious, and although many can be cured, they are the main leading cause of deaths for young children and infants.
Tay – Sachs syndrome is one of the fatal genetic diseases that are incurable. It is the absence of the enzyme Hexosaminidase A, or Hex A, that breaks down fatty waste products called gangliosides. Infants may appear normal on their first few months but as time goes by; the nerve cell becomes abnormally swollen of gangliosides and will eventually die. With the disease progressing, it causes the child to lose normal body functions such as seeing, hearing, physical and mental development.
Medical professions have categorized three forms of Tay – Sachs by the age when symptoms appear. The most common form is a complete deficiency of Hex A at the age of three to six months old. It progresses rapidly to the death at the age of four or five. At the age of two and five, a child may show the rarer form of the syndrome. It is the body’s deficiency of the enzyme and usually leading to the child’s death of the 15 years of age. A milder form can develop anywhere from age five to the early 30s of a person’s life.
Symptoms of disease depend on its progressiveness. The early stages shows the symptoms of seizures, increased startle reaction, increasing irritability, slow body growth as the head size increases and delayed mental and social development. The later stages shows the symptoms of feeding difficulties, abnormal body tone, loss of motor skills, blindness, deafness and loss of intellectual skills. But the symptom that marks a person with this disorder is the “cherry-red” spot in their retina.
Everyone with the family history of Tay – Sachs disease is at risk of developing the disorder... [continues]

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