Tay-Sachs disease
A fatal hereditary disease char- acterized by the absence of an enzyme, hexosa- minidase A, making it impossible for the body to assimilate certain fats. Although a child born with the disorder may seem normal at birth, symptoms appear during the first six months of life, beginning with deterioration of motor ability and voluntary movement. Progressively the child becomes severely retarded and develops blindness, convulsions, and paralysis. Death usually occurs by the age of three or four. No cure is known. A recessive-gene disorder (see BIRTH DEFECTS), Tay- Sachs disease is common among Ashkenazi Jews (from Central and Eastern Europe), among whom an estimated 1 of every 25 persons is a carrier (as opposed to 1 in 300 in other ethnic groups). If both parents are carriers, a fact that can be determined by a simple blood test, there is a 25% risk that any child of theirs will have the disease. Its presence in a fetus can be detected by AMNIOCENTESIS as well as other PRENATAL TESTS. A major international effort at genetic screening, directed at the Ashkenazi Jewish population, has cut the incidence of Tay- Sachs by 95%.
See also GAUCHER?S DISEASE.
this page is about Tay-Sachs disease of women's health!
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