Geometry.Net - Health_Conditions: Tay-sachs Disease

Center For Medical Genetics
taysachs disease is a progressive neurodegenerative disease that results froman enzyme deficiency. Tay Sachs disease is an autosomal recessive disorder.
http://www.geneticstesting.com/lab_testing/tay-sachs.html

Extractions: TAY-SACHS Tay-Sachs disease is a progressive neurodegenerative disease that results from an enzyme deficiency. The symptoms first appear at about the age of six months when the baby begins to have neurological deterioration. This is a lethal condition and death usually occurs by five to eight years of age. Tay-Sachs is caused by the lack of a substance (called hexosaminidase A or hex A) in the body. This substance usually breaks down a type of fat called GM2-ganglioside. When hex A is missing from the body it cannot break down this fat, and the fat accumulates to toxic levels in the body. The most damage is done to the cells of the brain and nervous system. Symptoms include severe mental and developmental delays as well as seizures during the first few months of life. A characteristic sign of Tay-Sachs disease is a "cherry-red" spot in the retina of the eye observed by a special eye exam. Although Tay-Sachs disease may occur in any nationality and ethnic group, it is most common in Jews of Eastern European descent (Ashkenazi Jews) and in some French-Canadian and Cajun populations. An estimated one in 31 Ashkenazi Jews is a carrier for Tay-Sachs disease. Carriers do not have Tay-Sachs disease but are capable of passing it on to their children if the other parent is also a carrier. If two carriers for Tay-Sachs disease have a child together, each child has a 25% chance of having Tay-Sachs disease.
eCUbNXaiTay-Sachs Diseasej
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http://www.arsvi.com/0y/tsc.htm
Health Ency.: Disease: Tay-Sachs Disease
taysachs disease. tay-sachs disease is inherited as a recessive gene, and 1 outof every 25 members of the Ashkenazi Jewish population carries the gene.
http://www.austin360.com/shared/health/adam/ency/article/001417.html

Extractions: Important notice Ency. home Disease T Tay-Sachs disease Overview Symptoms Treatment Prevention Definition: A familial disorder found predominantly in Ashkenazi Jewish families, which results in early death. Causes and Risks Tay-Sachs disease is caused by a deficiency of hexosaminidase, an enzyme that is important in the metabolism of gangliosides (a type of chemical substance found in nerve tissue). These gangliosides, particularly ganglioside GM2, then accumulate in the brain, causing neurological deterioration. Tay-Sachs disease is inherited as a recessive gene, and 1 out of every 25 members of the Ashkenazi Jewish population carries the gene. The incidence is 1 out of 2,500 people in this population. Depending on the age of onset and clinical features, Tay-Sachs has been classified into infantile-, juvenilie-, and adult-onset forms. The majority of people with Tay-Sachs, however, have infantile forms. Symptoms begin to appear at 3 to 6 months old. The disease unfortunately tends to progress rapidly, and the child usually dies by the age of 4 or 5 years. Ency. home
Tay-Sachs Disease
taysachs disease. tay-sachs disease (TSD) is a Historically, Tay-Sachsdisease was unknown before 1877. In that year, T. Leber described
http://www.hansonplace.org/ministries/health_articles/taySachs_disease.htm

Extractions: Tay-Sachs Disease Historically, Tay-Sachs disease was unknown before 1877. In that year, T. Leber described a familial disease of unknown etiology manifested by headache, migraine, convulsions, epileptiform attacks, dizziness and frequent blindness. He observed that the disease occurred between the 18th and 28th year of life, although the majority appeared between the 5th and 28th year. In 1881 Warreen Tay was the first to describe eyeground changes in a 12 month old child who showed pronounced weakness and had tremendous difficulty holding up the head and moving the limbs. Tay later observed that in each eye appeared a conspicuous large patch with a brownish red center. Within a few months, this atrophied into blindness. He concluded that the disease is congenital affecting young children as early as 6 months of ago and eventually becoming fatal. Tay-sachs disease is inherited as an autosomal recessive trait most common in families of Eastern European Jewish origin. The carrier/ heterozygous rate is 1/30 in Jewish Americans and 1/300 in non-Jewish Americans. It is nearly 100 times more frequent among Ashkenazi Jews than among non-Jews. The disease affects 1/3600 infants of Ashkenazi Jewish and French Canadian population. Rare presentation in non-Jewish infants include Asiatic and Levantine origin as well as Blacks. Autopsies on many of these patients reveals massive demyelination and extensive cystic degeneration of the white matter. There is also mild ventricular dilation, axonal swelling neuronal ballooning and moderate flattening of the dorsal cerebral gyri.
ORPHANET® : Tay-Sachs Disease
Translate this page ORPHANET. ORPHANET database access. tay-sachs disease. Direct access todetails Alias GM2-gangliosidosis,Hexosaminidase A deficiency. Home Page.
http://www.orpha.net/static/GB/tay_sachs.html
GeneDis Tay-Sachs Mutations Web Site
GeneDis Human Genetic Disease Database. taysachs disease. Scientificeditor Prof. Ruth GeneDis Website for tay-sachs disease. Tay
http://life2.tau.ac.il/GeneDis/Tables/Tay_Sachs/tay_sachs.html

Extractions: Bioinformatics Unit , G.S. Wise Faculty of Life Sciences, Tel Aviv University, Israel. GeneDis Website for Tay-Sachs Disease Tay-Sachs disease is a autosomal recessive, progressive neurodegenerative disorder, caused due to mutations in the HexA gene. The GeneDis web site for Tay-Sachs includes the wild type primary sequences of the HexA gene and protein. Known mutations are incorporated in the gene and in the protein sequences using hyperlinks. Users can compare HexA DNA or protein sequences to the wild type hyperlinked sequences present in GeneDis. The pairwise alignment output retains the hyperlinks, which enable the user to browse through the Tay-Sachs Disease mutation tables. The mutation tables show the location of the mutation on the cDNA, genomic DNA and protein sequence, the number of exon or intron, the severity of the disease associated with the mutation and a reference in which the mutation was first described. Go to "Search the Tay-Sachs with your primary DNA or protein sequence" Go to "GeneDis Homepage" Visit the Tay-Sachs Disease Database at " Locus Specific Mutation Databases Disease description Tay-Sachs ( OMIM 272800 ) is 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. The disease is clinically characterized by by the onset in infancy of developmental retardation, followed by paralysis, dementia and blindness, with death in the second or third year of life. A gray-white area around the retinal fovea centralis, due to lipid-laden ganglion cells, leaving a central cherry-red' spot is a typical funduscopic finding. Pathologic verification is provided by the finding of the typically ballooned neurons in the central nervous system. An early and persistent extension response to sound ('startle reaction') is useful for recognizing the disorder.
Tay-Sachs Disease
encyclopediaEncyclopedia taysachs disease, tA'-saks' PronunciationKey. tay-sachs disease , rare hereditary disease caused by a
http://www.infoplease.com/ce6/sci/A0848010.html

Extractions: Pronunciation Key Tay-Sachs disease , rare hereditary disease caused by a genetic mutation that leaves the body unable to produce an enzyme necessary for fat metabolism in nerve cells, producing central nervous system degeneration. The disease is named for a British ophthalmologist, Warren Tay, who first described the disease, in 1881, and a New York neurologist, Bernard Sachs, who first described the cellular changes and the genetic nature of the disease, in 1887. In infants, it is characterized by progressive mental deterioration, blindness, paralysis, epileptic seizures, and death, usually between ages three and five. Late-onset Tay-Sachs occurs in persons who have a genetic mutation that is similar but allows some production of the missing enzyme. Sections in this article:
National Tay-Sachs & Allied Diseases Association Of Delaware Valley (NTSAD-DV)
Pennsylvania chapter of the National taysachs Allied diseases Assoc. sponsors genetic screening programs and offers disease info. WHEN A SIMPLE TEST CAN ELIMINATE THE RISK? tay-sachs AND CANAVAN CAN STRIKE
http://www.tay-sachs.org/
: What Is It?
National taysachs Allied disease Association Inc. link, DNA LearningCenter Link, Concept 1 Children resemble their parents. Learn
http://www.yourgenesyourhealth.org/ygyh/mason/ygyh.html?syndrome=tay
The Contact A Family Directory - TAY SACHS DISEASE
printer friendly, TAY SACHS disease, Tay Sachs is a lifethreatening,progressive, genetic, lysosomal storage disease. Like all metabolic
http://www.cafamily.org.uk/Direct/t15.html

Extractions: printer friendly TAY SACHS DISEASE home more about us in your area conditions information ... how you can help search this site Tay Sachs is a life-threatening, progressive, genetic, lysosomal storage disease. Like all metabolic diseases there is a block because a catalyst or enzyme, necessary to perform essential chemical reactions in the body, is absent or malfunctioning. This defect results in the build up of chemicals on one side of the metabolic blockage and a deficiency of vital chemicals on the other. In this case the enzyme concerned is hexosaminidase A (hex-A). In its absence a lipid GM(2) ganglioside builds up abnormally in the body. The nerve cells in the brain are particularly affected. This process begins in the fetus during pregnancy. However the baby usually develops normally until about 6 months of age. The nervous system is progressively affected and the disease is usually fatal by the age of 3-5 years. Inheritance patterns
Tay Sachs Disease
Classical Tay Sachs disease is an inherited, genetic disorder that causes progressivedegeneration and destruction of the central nervous system in affected
http://www.einstein.edu/e3front.dll?durki=7177
Tay Sachs Disease
Tay Sachs disease Information Tay Sachs disease Web site http//www.noah.cuny.edu/pregnancy/march_of_dimes/birth_defects/taysachs.html.CE here.
http://www.athealth.com/Consumer/rcenter/resource_data.cfm?TopicCF=TaySachsDisea
TAY SACHS DISEASE
TAY SACHS disease. DEFINITION there are 2 forms of GM2 Gangliosidoses 1. Tay Sachsdisease. defective alphachain of beta-hexosaminidase. 2. Sandhoff disease.
http://www.icondata.com/health/pedbase/files/TAYSACHS.HTM

Extractions: Pediatric Database (PEDBASE) Discipline: MET Last Updated: 4/13/94 A lysosomal storage disorder characterized by the accumulation of lipids (GM2 gangliosides) primarily in the central nervous system (CNS) resulting in 3 clinical variants. risk factors: M = F Ashkenazi Jews, French-Canadians, Cajun beta-hexosaminidase A is a lysosomal enzyme which catalyzes the removal of N-acetyl-galactosamine from GM2 gangliosides - the substrate for this reaction is a complex of GM2 ganglioside + a GM2 activator protein beta-hexosaminidase A isoenzyme is a heterodimer composed of an alpha-chain and a beta-chain the alpha-chain gene (defective in Tay Sachs), has been cloned and is about 1700 bp in length and contains 14 exons multiple mutations have been identified in the gene including splicing, insertional, deletional, nonsense, and missense errors in Ashkenazi Jews, the most common mutations are found in exon 11 and at the junction of exons 12 and 13
RGDIC: Index Page
The website for the National taysachs Allied Diseases Associationhas moved to the following address http//www.ntsad.org. Please
http://www.med.nyu.edu/~murphp01/taysachs.htm
Diagnosis - Tay Sachs Disease Prevention Program
Home diagnosis clinical tay sachs disease. Tay Sachs disease PreventionProgram. Tay Sachs disease (TSD) is an incurable inherited
http://www.genetichealthvic.net.au/pages/diagnosis/taysachs.html

Extractions: Home diagnosis ... clinical Tay Sachs Disease (TSD) is an incurable inherited genetic disorder of the central nervous system. Symptoms usually appear before six months, when babies lose the ability to smile. Blindness, paralysis and seizures follow, and the child usually dies before their fifth birthday. It is 100 times more common among Jewish people with Eastern European ancestry than the general community. Genetic Health Services Victoria has been running the Tay Sachs Disease Prevention Program for four years. It has been generously supported by the Pratt Foundation, Mayne Health Dorevitch Pathology, Besen Foundation and anonymous donors. Year 11 students at Jewish day schools receive education about the disease and how it can be prevented and are offered the opportunity to have carrier testing. Almost 1000 students have been tested. A new program aims to alert those Jewish people of childbearing age who have not been part of the schools program, about Tay Sachs Disease and carrier testing.
NORD - National Organization For Rare Disorders, Inc.
Tay Sachs disease. View Cart/Checkout. Copyright 1984, 1985, 1986, 1987, 1988,1989, 1992, 1997, 1998, 1999, 2000, 2001, 2002 Synonyms of Tay Sachs disease
http://www.rarediseases.org/search/rdbdetail_abstract.html?disname=Tay Sachs Dis
KinderStart - Health/Medical/Dental : Major Diseases/Conditions : Tay Sachs Dise
Home Health/Medical/Dental Major Diseases/Conditions Tay SachsDisease. Web Pages. The following links are in English About
http://www.kinderstart.com/healthmedicaldental/majordiseasesconditions/taysachsd

Extractions: A Baby with Tay-Sachs disease appears healthy at birth, and seems to be developing normally for a few months. Symptoms generally appear by six months of age. While symptoms vary from one child to the next, there is always a slowing down of development. Gradually, Tay-Sachs children lose motor skills and mental functions.

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