Tay-Sachs disease
Natural Standard Bottom Line Monograph, Copyright © 2009 (www.naturalstandard.com). Commercial distribution prohibited. This monograph is intended for informational purposes only, and should not be interpreted as specific medical advice. You should consult with a qualified healthcare provider before making decisions about therapies and/or health conditions.
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Related Terms:
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Adult TSD, ataxia, autosomal, autosomal recessive, B variant GM2 gangliosidosis, beta-hexosaminidase A, central nervous system, deficiency, ganglioside, GM2 gangliosidosis adult chronic type, GM2 gangliosidosis type 1, genetic counseling, hexA deficiency, HEXA gene, hexosaminidase A (alpha polypeptide), hexosaminidase A deficiency, hexosaminidase alpha-subunit deficiency (variant B), infantile TSD, juvenile TSD, late onset TSD, LOTS, lysosomal storage disorder, lysosome, mental illness, mutation, nerve cell, nervous system, recessive, screening, seizure, sphingolipidosis, TSD. |
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Tay-Sachs disease (TSD) is a rare inherited disorder that progressively destroys the brain and nervous system. The body progressively loses basic functions, leading to deafness, blindness, and paralysis. Individuals with TSD usually do not live beyond five years of age. Infection is a common cause of death in TSD patients. |
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TSD is caused by mutations in the HEXA gene. This gene contains instructions for making the hexosaminidase A enzyme, which plays an important role in maintaining the central nervous system. The central nervous system, which controls many of the bodily functions, is eventually destroyed by TSD. Because it affects the nervous system, TSD is classified as a neurological disease. |
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TSD is named after British ophthalmologist Warren Tay and American physician Bernard Sachs, who independently described the symptoms of what would later be known as infantile TSD. In 1881, Tay described eye defects, which are characteristic of TSD, in an infant with a progressive neurological disease. In 1887, Sachs presented his observations of a disease that was prevalent among German immigrants of Jewish heritage. |
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TSD is a recessive genetic condition, which means that the mutation must be inherited from both parents for the disease to occur. People who have inherited the mutation from only one parent do not have TSD, but are called "carriers" because they may pass the disease on to their children. Historically, certain populations (such as French Canadians and those of Ashkenazi Jewish descent) had a higher proportion of carriers and thus a higher incidence of TSD. |
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Content available for subscribers only.
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Content available for subscribers only.
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Content available for subscribers only.
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Natural Standard Monograph
(www.naturalstandard.com)
Copyright © 2009 Natural Standard Inc. Commercial distribution or
reproduction prohibited.
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The information in this monograph is intended for informational purposes
only, and is meant to help users better understand health concerns.
Information is based on review of scientific research data, historical
practice patterns, and clinical experience. This information should not be
interpreted as specific medical advice. Users should consult with a
qualified healthcare provider for specific questions regarding therapies,
diagnosis and/or health conditions, prior to making therapeutic decisions.
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