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GM2-gangliosidosis, B Variant (Tay-Sachs Disease) Print E-mail

Dr. Kennedy Defined as "an autosomal recessive, progressive neurodegenerative disorder, which in the classic infantile form, is usually fatal by age 2 or 3 years, results from deficiency of the enzyme hexosaminidase A." TSD is a model of a fatal metabolic disease that occurs primarily within a well-defined subpopulation. It is one of several genetic diseases found more often in persons of Jewish origin. The frequency of TSD is much higher in Ashkenazi Jews (of European origin) than in other groups of Jews. (In the U.S., 95% of Jews are Ashkenazi and are at risk for TSD). TSD occurs more rarely, in non-Jews. Knowledge of the biochemical basis TSD has permitted screening programs for carrier detection and prenatal diagnosis of TSD. There are forms of TSD with somewhat more hex-A and hence later onset, termed juvenile TSD and adult TSH. TSD is named for the English physician Waren Tay (1843-1927) and the New York neurologist Bernard (Barney) Sachs (1858-1944). TSD worsens, with time, as the central nervous system progressively deteriorates. "Classic" TSD has an insidious onset in infancy. The child with TSD usually develops normally for the first few months of life. An exaggerated startle reaction may first be noted. Head control is lost by 6-8 months of age. The infant cannot roll over or sit up. Spasticity and rigidity develop. Excessive drooling and convulsions become evident. Blindness and head enlargement set in by the second year. With current treatment, it is fatal by age 5. After age 2, total constant nursing care is needed. Death is due usually to cachexia (wasting away) or aspiration pneumonia initiated by food going down "the wrong way" into the lungs.



The information in this article is not meant to be medical advice.�Treatment for a medical condition should come at the recommendation of your personal physician.

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