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Tay-Sachs

Many families are affected by disease every year. Most diseases appear more in one specific culture or race. An example of one of these diseases is Tay-Sachs. Tay-Sachs disease comes in three forms, infantile, juvenile (subacute), and late on-set. Infantile is the most common followed by late on-set.

Tay-Sachs disease in general is a rare genetic disorder that has no cure. In all forms of Tay-Sachs disease the enzyme hexosaminidase A (hex A) is lacking or at a low amount. Hex A is necessary to break down normal fatty compounds in the body cells. Therefore these compounds accumulate gradually and damage the brain and nerve cells causing the cells to function improperly. Tay-Sachs is an autosomal recessive disease. Therefore in order to have this disease a person has to inherit a gene from both parents. A person with Tay-Sachs disease would have a genotype of tt,


Another form of Tay-Sachs disease is Late-onset Tay-Sachs. With fewer than 100 reported cases, this form of Tay-Sachs occurs in approximately one in 67,000 in the U.S. Jewish population and approximately one in 14,000 in Israel. Late-onset begins between adolescence and the mid-thirty’s. The degree of the symptoms may vary between each individual. These symptoms may include clumsiness, mood swings, muscle weakness, cramping, wasting, and twitching, lack of coordination, slurred speech, and distortion of posture. People may have some of these signs even before adolescence. Although, late-onset Tay-Sachs is often misdiagnosed for other disorders including, but not limited to: adolescent onset form of spinal muscular atrophy (Kugelberg-Welander), Lou Gehrig’s disease, or Friedreich ataxia. One thing that makes late-onset Tay-Sachs different from the other two form

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Approximate Word count = 591
Approximate Pages = 2 (250 words per page double spaced)


  

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