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Tay Sachs Disease


Information of Tay Sachs Disease

Tay Sachs Disease is a hereditary disease occuring in and affecting the central nervous system. It is a fatal inherited disease of the central nervous system caused by lack of an enzyme called hexosaminidase A (hex A). The enzyme is necessarily required for metabolic breakdown of fats in brain and nerve cells. The disease appears in infants at an early age of 4 to 6 month, when suddenly these healthy babies stops turning, crawling and smiling. In those infants having Tay Sachs disease, the fats gradually build up in brain and nerve cells, resulting in damage of brain and entire nervous system. The infants suffering from Tay Sachs disease die at an early age of 2-4 years.

Types of Tay Sachs Disease

Depending on the severity of the disease it has been divided in four types.

  • Classical infantile type of Tay Sachs disease.
  • Juvenile Tay Sachs disease.
  • Chronic Tay Sachs disease.
  • Adult onset Tay Sachs disease.

Cause of Tay Sachs Disease

Autosomal recessive resulting in increase lipid storage (the earliest form of the cerebromacular degenerations)

Symptom of Tay Sachs Disease

  • Progressive loss of vision and hearing;
  • Spastic paralysis;
  • Cherry red spot at macula of retina;
  • Epilepsy

Diagnosis for Tay Sachs carrier

Detecting Tay Sachs disease is performed by looking at the blood levels of enzymes. The blood test is carried out for diagnosing the carriers of the disease. The blood sample is tested for hex A enzyme, carrier of Tay Sachs disease will have half the enzyme compared to a non-carrier. Further DNA based genetic analysis can be carried out for knowing the mutation in hex A enzyme.

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