Tay- Sachs

By: Levi M. Lindsay

Description


  • 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.




Cause

  • 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.




Prevention

  • Children can only inherit Tay- Sachs if both of the parents are carriers of the gene.
  • Knowing about the disease
  • Testing

Complications

  • 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.
  • Choking
  • Physical Injury
  • Seizures

Life Outlook


  • 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.



Testing/ Treatment

  • 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