By: Levi M. Lindsay
- It is a Metabolic disorder.
- Failure to metabolize a lipid called GM2.
- The common abbreviation for this Birth defect is called "TSD".
- Tay- Sachs usually occurs in infancy.
- By 6-8 months of age, head control is lost.
- Infant cannot sit up or roll over.
- Body becomes stiff and rigid.
- Found commonly in Ashkenzani Jews, or people from Polish or Lithuanian descent.
- There is a lack of an enzyme named Hexosaminidase A.
- Tay- Sachs is inherited in an autosomal recessive manner.
- Disease gets worse as the central nervous systems deteriorates.
- Death is typically caused by Cachexia or the body "Wasting Away", or Pneumonia due to Aspiration.
- Children can only inherit Tay- Sachs if both of the parents are carriers of the gene.
- Knowing about the disease
- There could be nerve damage to the child while the child is still in the mothers womb.
- Infection caused by agents including viruses and bacteria.
- Physical Injury
- Death usually occurs around age 5 for a child with Tay- Sachs disease.
- Blindness and head enlargement happen by the second year.
- Constant nursing attention required after age 2.
- In rare cases, called juvenile Hex A deficiency, symptoms wont occur until 2-5 years old.
- Child deceases around age 15.
- Blood test for parents to see if child can inherit the gene.
- There is no cure for Tay- Sachs
- Only medications available to help relieve pain, manage seizures, and control muscle spasticity.
- D.N.A. test and a P.G.D. test