Tay-Sachs sentence example

Tay-Sachs
  • Phenylketonuria, Tay-Sachs disease, and galactosemia are inborn errors of metabolism.
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  • Tay-Sachs disease: a genetic disorder found predominantly in Ashkenazi Jewish families results in early death.
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  • Tay-Sachs disease (TSD) is a fatal condition caused by a deficiency of the enzyme hexosaminidase A (Hex-A).
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  • Tay-Sachs disease has a recessive pattern of inheritance, and approximately one in every 27 people of Jewish ancestry in the United States carries the TSD gene.
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  • Carriers of the Tay-Sachs related gene can be identified with a blood test.
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  • Amniocentesis or chorionic villi sampling can be used to determine if the fetus has Tay-Sachs disease.
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  • There is no treatment for Tay-Sachs disease.
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  • Children born with Tay-Sachs disease become increasingly debilitated; most die by about age four.
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  • Tay-Sachs disease is a genetic disorder caused by a missing enzyme that results in the accumulation of a fatty substance in the nervous system.
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  • In Tay-Sachs disease, the enzyme necessary for removing excess gangliosides is missing.
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  • Tay-Sachs disease is particularly common among Jewish people of Eastern European and Russian (Ashkenazi) origin.
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  • In the general population about one out of every 320,000 babies born has Tay-Sachs disease.
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  • Tay-Sachs is also more common among certain French-Canadian, Pennsylvania Dutch, and Cajun families.
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  • Tay-Sachs is caused by a defective gene.
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  • Because Tay-Sachs is a recessive disorder, only people who receive two defective genes (one from the mother and one from the father) will actually have the disease.
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  • When a carrier and a non-carrier have children, none of their children will actually have Tay-Sachs.
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  • Classic Tay-Sachs disease strikes infants around the age of six months.
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  • When Tay-Sachs begins to show itself, the baby stops interacting with other people and develops a staring gaze.
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  • Children with Tay-Sachs also have other symptoms, such as loss of peripheral (side) vision, inability to breathe and swallow, and paralysis as the disorder progresses.
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  • If the child has any noticeable problems that might be associated with Tay-Sachs disease or appears to stop developing normally after a period of normal development, the doctor should be consulted.
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  • Examination of the eyes of a child with Tay-Sachs disease reveals a characteristic cherry-red spot at the back of the eye in an area called the retina.
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  • Providing good, supportive care and treating the symptoms as they arise is the only way to treat Tay-Sachs; there is no way to treat the disease itself.
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  • The prognosis for a child with classic Tay-Sachs disease is death.
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  • Because the chronic form of Tay-Sachs was discovered near the end of the 2000s, prognosis for this type of the disease was, as of 2004, not completely known.
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  • There is no known way to prevent Tay-Sachs disease.
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  • It is, however, possible to identify carriers of the disease and provide them with genetic counseling and appropriate information concerning the chance of their offspring having Tay-Sachs disease.
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  • When a woman is already pregnant, tests can be performed on either the cells of the fetus (amniocentesis) or the placenta (chorionic villus sampling) to determine whether the baby will have Tay-Sachs disease.
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  • If parents are thinking of having a child and believe they might be carriers of Tay-Sachs, they should be screened so that they can assess their options.
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  • Children born with infantile Tay-Sachs, even with the best available care, usually die before the age of five.
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  • Children born with juvenile Tay-Sachs usually die before the age of 15.
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  • By 1997, approximately 800 different diagnostic tests were available, most of them for hereditary genetic disorders such as Tay-Sachs disease, sickle cell anemia, hemophilia, muscular dystrophy, and cystic fibrosis.
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  • For some disorders, like Tay-Sachs, the simple presence of a telltale chemical compound in the amniotic fluid is enough to confirm a diagnosis.
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  • Tay-Sachs disease-An inherited disease caused by a missing enzyme that is prevalent among the Ashkenazi Jewish population of the United States.
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  • Depending on your genetic background, you and your partner may also want to have a pregnancy blood test for genetic problems such as sickle cell disease or Tay-Sachs.
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