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Tay-Sach’s Disease

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Tay-Sach’s Disease

  1. 1. Tay-Sach’s Disease A genetic metabolic disorder caused by deficiency of the enzyme hexosaminidase A (hex-A) that results in a failure to process a lipid called GM2 ganglioside that accumulates in the brain and other tissues. 
  2. 2. rare autosomal recessive genetic disorder.
  3. 3. History: Waren Tay and Bernard Sachs, two physicians, described the disease's progression and provided differential diagnostic criteria to distinguish it from other neurological disorders with similar symptoms.
  4. 4. Types of Tay-Sachs Infantile TSD Juvenile TSD Adult/late onset TSD
  5. 5. Cause: When a person is born with a mutation on Hex A gene. With or without reduces levels of betahexosaminidase enzyme
  6. 6. Effects:  it causes a progressive deterioration of nerve cells and of mental and physical the disease occurs when harmful quantities of cell membrane components known as gangliosides accumulate in the brain's nerve cells, eventually leading to the premature death of the cells.
  7. 7. Inheritance: This condition is inherited in an autosomal recessive pattern.The parents of an individual with an autosomal recessive condition each carry one copy of the mutated gene.
  8. 8. Signs and Symptoms For Infantile TSD Blind Deaf Unable to swallow Paralytic
  9. 9. Juvenile TSD  cognitive and motor skill deterioration  dysarthria  dysphagia  ataxia spasticity
  10. 10. Diagnosis: Simple blood test DNA test Red dot found on the retina
  11. 11. No cure for the Tay-sach Disease. However there are ways of making their lives comfortable. Massage therapy Feeding tubes Wheel chairs, canes, and walkers
  12. 12. Prevention: Prenatal diagnosis Preimplantation genetic diagnosis Mate selection

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