Geometry.Net - Health_Conditions: Tay-sachs Disease

National Tay-Sachs & Allied Diseases Association
An organization offering support and programs geared to families affected by tay-sachs disease and Category Health Conditions and Diseases Tay-SachsThe National TaySachs Allied Diseases Association (NTSAD) is dedicated to thetreatment and prevention of Tay-Sachs, Canavan, and related diseases, and to
http://www.ntsad.org/

Extractions: Publications Links Contact Us 25th ANNUAL FAMILY CONFERENCE Conference Information Tay-Sachs Canavan , and related diseases, and to provide information and support services to individuals and families affected by these diseases, as well as the public at large. Strategies for achieving these goals include public and professional education, research, genetic screening, family services and advocacy. NTSAD's foundations and its future. The Allied Diseases profiled. The basis of genetics for the Allied Diseases. NTSAD programs for affected children and families. Further sources of information. Our thanks to those responsible for assembling the information found on this website President: Mark P. Madsen
NINDS Tay-Sachs Disease Information Page
Information sheet on this disease addressing what it is, treatment and prognosis.Category Health Conditions and Diseases Tay-Sachs More about taysachs disease, Studies with patients, Research literature, Pressreleases, Disclaimer, NINDS tay-sachs disease Information Page Reviewed 12-05-2001
http://www.ninds.nih.gov/health_and_medical/disorders/taysachs_doc.htm
Tay-Sachs Disease
taysachs diseasetay-sachs disease, a heritable metabolic disorder commonly associatedwith Ashkenazi Jews, has also been found in the French Canadians of
http://www.ncbi.nlm.nih.gov/disease/Tay_Sachs.html

Extractions: Tay-Sachs Disease Tay-Sachs disease, a heritable metabolic disorder commonly associated with Ashkenazi Jews, has also been found in the French Canadians of Southeastern Quebec, the Cajuns of Southwest Louisiana, and other populations throughout the world. The severity of expression and the age at onset of Tay-Sachs varies from infantile and juvenile forms that exhibit paralysis, dementia, blindness and early death to a chronic adult form that exhibits neuron dysfunction and psychosis. Tay-Sachs is an autosomal recessive disease caused by mutations in both alleles of a gene (HEXA) on chromosome 15. HEXA codes for the alpha subunit of the enzyme beta-hexosaminidase A. This enzyme is found in lysosomes, organelles that break down large molecules for recycling by the cell. Normally, beta- hexosaminidase A helps to degrade a lipid called GM2 ganglioside, but in Tay-Sachs individuals, the enzyme is absent or present only in very reduced amounts, allowing excessive accumulation of the GM2 ganglioside in neurons. The progressive neurodegeneration seen in the varied forms of Tay-Sachs depends upon the speed and degree of GM2 ganglioside accumulation, which in turn is dependent upon the level of functional beta-hexosaminidase A present in the body.
Merrill Text
. Clinical Symptoms Late onset taysachs diseaseis a newly recognized and relatively rare form of Tay-Sachs. Description Prepared by Elizabeth Merrill, MS an article about the clinical symptoms, molecular basis of the disease, Category Health Conditions and Diseases Tay-Sachs General
http://neuro-oas.mgh.harvard.edu/lots/merrilltxt.html

Extractions: Common Synonyms: Adult GM2 Gangliosidosis Chronic GM2 Gangliosidosis Adult-Onset Tay-Sachs Enzyme Deficiency: beta-hexosaminidase A (Hex A) General Description The onset of symptoms in late onset Tay-Sachs is usually apparent between adolescence and the mid-30's, although this may vary. Precise determination of age of onset is difficult because the disorder is slowly progressive. Subsequent to diagnosis some affected individuals realize, in retrospect, that there were subtle signs even before adolescence, such as clumsiness, tremor, falls, abnormal behaviors, or mood alterations. In some persons with late onset Tay-Sachs intellectual function may be affected to some degree. Memory impairment, difficulty with comprehension, and deterioration in school performance may occur in some affected individuals. Parents of individuals with late onset Tay-Sachs sometimes report short attention spans, acting out episodes, tangential answering of questions, and change in affect or personality. Psychiatric findings are a feature of the disorder in about 40$ of cases. They usually present as recurrent psychotic episodes (loss of contact with reality) or as depression which may be associated with psychotic features as well. In some cases the psychiatric manifestations may precede the neurological manifestations, and delay the diagnosis of late onset Tay-Sachs, but more often they occur in conjunction with a neurodegenerative clinical presentation. Post-partum psychosis following a first pregnancy has bee reported in one female patient, who did not have a prior psychiatric history. In some patients with psychiatric involvement, personality disturbance with marked shyness and social withdrawal precedes actual psychosis.
March Of Dimes: Tay-Sachs Disease
taysachs disease and other conditions. Sandhoff Disease, Fabry Disease, Gaucher Disease, Niemann-Pick Disease, Canavan
http://www.noah-health.org/english/pregnancy/march_of_dimes/birth_defects/taysac

Extractions: Tay-Sachs disease is a fatal inherited disease of the central nervous system. The most common form of the disease affects babies. Affected babies appear healthy at birth and seem to develop normally for the first few months of life. After this time, development slows and symptoms begin. Sadly, there is no effective treatment for these babies. Babies with Tay-Sachs lack an enzyme (protein) called hexosaminidase A (hex A) necessary for breaking down certain fatty substances in brain and nerve cells. These substances build up and gradually destroy brain and nerve cells, until the entire central nervous system stops working. Symptoms of classical Tay-Sachs disease first appear at 4 to 6 months of age when an apparently healthy baby gradually stops smiling, crawling or turning over, loses its ability to grasp or reach out and, eventually, becomes blind, paralyzed and unaware of its surroundings. Death occurs by age 5. Who Is at Risk of Tay-Sachs Disease?
Show HD Leaflets
A description along with prognosis and treatment of this disease.
http://www.healthtouch.com/bin/EContent_HT/showAllLfts.asp?lftname=NINDS201&
The NTSAD Diseases Family: Tay-Sachs Disease
taysachs disease (Classical Infantile Form). Contents. 1, What is Tay-SachsDisease? See also Late-Onset tay-sachs disease. What is tay-sachs disease?
http://www.ntsad.org/pages/t-sachs.htm

Extractions: (Classical Infantile Form) Contents What is Tay-Sachs Disease? How is Tay-Sachs Disease Transmitted? Are Certain Populations at Higher Risk? Is There a Test to Identify Carriers? ... Additional information links [See also: Late-Onset Tay-Sachs Disease What is Tay-Sachs Disease? THE CLASSICAL FORM OF TAY-SACHS disease (TSD) is a fatal genetic disorder in children that causes progressive destruction of the central nervous system. T he disease is named for Warren Tay (1843-1927), a British ophthalmologist who in 1881 described a patient with a cherry-red spot on the retina of the eye. It is also named for Bernard Sachs (1858-1944), a New York neurologist whose work several years later provided the first description of the cellular changes in Tay-Sachs disease. Sachs also recognized the familial nature of the disorder, and, by observing numerous cases, he noted that most babies with Tay-Sachs disease were of eastern European Jewish origin. T ay-Sachs disease is caused by the absence of a vital enzyme called hexosaminidase A (Hex-A). Without Hex-A, a fatty substance or lipid called GM2 ganglioside accumulates abnormally in cells, especially in the nerve cells of the brain. This ongoing accumulation causes progressive damage to the cells. The destructive process begins in the fetus early in pregnancy, although the disease is not clinically apparent until the child is several months old. By the time a child with TSD is three or four years old, the nervous system is so badly affected that life itself cannot be supported. Even with the best of care, all children with classical TSD die early in childhood, usually by the age of five.
Molecular Genetics Testing Laboratory
The Ashkenazi Jewish Genetic Disease Screen tests for seven common inherited diseases in the Ashkenazi Jewish population taysachs disease, Canavan disease, cystic fibrosis, Gaucher disease, Bloom syndrome , Familial dysautonomia and Fanconi anemia. Among Ashkenazi Jews, the carrier frequencies and disease incidences for Cystic Fibrosis is 13600. The Molecular Genetics Laboratory performs multiplex assays to screen for all seven diseases in individuals at risk.
http://www.med.nyu.edu/genetics/ashkenazi.html

Extractions: See the video: Genetic Screening Video real player needed The Ashkenazi Jewish Genetic Disease Screen tests for seven common inherited diseases in the Ashkenazi Jewish population: Tay-Sachs disease, Canavan disease, cystic fibrosis, Gaucher disease, Bloom syndrome , Familial dysautonomia and Fanconi anemia. Among Ashkenazi Jews, the carrier frequencies and disease incidences for each of these has been estimated to be 1:25 and 1:3000 for Tay-Sachs disease; 1:30 and 1:3600 for cystic fibrosis; 1:40 and 1:6400 for Canavan disease; 1:15 and 1:900 for Gaucher disease 1:100 and 1:10,000 for Bloom syndrome , 1:30 and 1:3600 for Familial dysautonomia and 1:80 and 1:6,400 for Fanconi anemia. The Molecular Genetics Laboratory performs multiplex assays to screen for all seven diseases in individuals at risk. NOTE: This screen is most appropriate for people who are Ashkenazi Jews. This screen is not appropriate for individuals from other ethnic backgrounds. Those individuals should use other testing approaches to assess their carrier risk for these diseases. Contact the laboratory to determine appropriate testing for individuals of mixed heritage.
Tay-Sachs Disease Hub
Links to information and resources.
http://www.genomelink.org/taysachs
OMIM ENTRY 272800
taysachs disease. Who to Contact. Where to Go to Chat with Others
http://www3.ncbi.nlm.nih.gov/htbin-post/Omim/dispmim?272800
Late Onset Tay-Sachs - MGH
LATE ONSET TAYSACHS. Massachusetts General Hospital. Department of Neurology.tay-sachs disease- Information for patients, families and professionals.
http://neuro-oas.mgh.harvard.edu/lots/main.html

Extractions: Questions and Comments - We want to hear from you Invited Essay Online Discussion Forum Endorsed by The Late Onset Tay-Sachs Foundation Designed and maintained by Katherine B. Sims , M.D. sims@helix.mgh.harvard.edu Our goal is to improve communication for all those interested in Late Onset Tay-Sachs. If you have a resource you would like listed, please contact me. MGH Neurology Home
National Tay-Sachs & Allied Diseases Association Of Delaware Valley
baby with taysachs disease appears healthy at birth, and seems to be developingnormally for a few months. Why is a baby born with tay-sachs disease?
http://www.tay-sachs.org/whatista.htm

Extractions: 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. Over time, the child becomes blind, deaf, mentally retarded, paralyzed and non responsive to the environment. Tay-Sachs children usually die by age five. Children with Tay-Sachs disease lack a vital enzyme, hexosaminidase A (Hex-A). Hex-A is needed for the body to break down a fatty waste substance found in brain cells. Without Hex-A, this substance accumulates abnormally and causes progressive damage until the nervous system can no longer sustain life.
MEDLINEplus: Tay-Sachs Disease
Topics. taysachs disease. Contents of Organizations. Search MEDLINEfor recent research articles on tay-sachs disease. You may
http://www.nlm.nih.gov/medlineplus/taysachsdisease.html
MEDLINEplus Medical Encyclopedia: 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.nlm.nih.gov/medlineplus/ency/article/001417.htm

Extractions: Skip navigation Other encyclopedia topics: A-Ag Ah-Ap Aq-Az B-Bk ... Z Contents of this page: Definition A familial disorder found predominantly in Ashkenazi Jewish families, which results in early death. Causes, incidence, and risk factors 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-, juvenile-, 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.
Medical References: Tay-Sachs Disease
Quick Reference and Fact Sheets. taysachs disease What Is tay-sachs disease? Tay-Sachsdisease is a fatal inherited disease of the central nervous system.
http://www.marchofdimes.com/professionals/681_1227.asp

Extractions: Tay-Sachs disease is a fatal inherited disease of the central nervous system. The most common form of the disease affects babies. Affected babies appear healthy at birth and seem to develop normally for the first few months of life. After this time, development slows and symptoms begin. Sadly, there is no effective treatment for these babies. Babies with Tay-Sachs lack an enzyme (protein) called hexosaminidase A (hex A) necessary for breaking down certain fatty substances in brain and nerve cells. These substances build up and gradually destroy brain and nerve cells, until the entire central nervous system stops working. Symptoms of classical Tay-Sachs disease first appear at 4 to 6 months of age when an apparently healthy baby gradually stops smiling, crawling or turning over, loses its ability to grasp or reach out and, eventually, becomes blind, paralyzed and unaware of its surroundings. Death occurs by age 5.
Medical References: Tay-Sachs Disease
taysachs disease What Is tay-sachs disease? tay-sachs disease is afatal inherited disease of the central nervous system. The most
http://www.marchofdimes.com/printableArticles/681_1227.asp

Extractions: Tay-Sachs disease is a fatal inherited disease of the central nervous system. The most common form of the disease affects babies. Affected babies appear healthy at birth and seem to develop normally for the first few months of life. After this time, development slows and symptoms begin. Sadly, there is no effective treatment for these babies. Babies with Tay-Sachs lack an enzyme (protein) called hexosaminidase A (hex A) necessary for breaking down certain fatty substances in brain and nerve cells. These substances build up and gradually destroy brain and nerve cells, until the entire central nervous system stops working. Symptoms of classical Tay-Sachs disease first appear at 4 to 6 months of age when an apparently healthy baby gradually stops smiling, crawling or turning over, loses its ability to grasp or reach out and, eventually, becomes blind, paralyzed and unaware of its surroundings. Death occurs by age 5.
Family Village / Library / Tay-Sachs Disease
Library S T. tay-sachs disease.
http://www.familyvillage.wisc.edu/lib_tays.htm

Extractions: This is a supportive list for parents, families and friends of people dealing with children who have Tay-Sachs disease, a fatal genetic disease commonly found among people of eastern european Jewish descent, French Canadian and Cajun descent, but also among the general population. This list is not moderated at this time, however, it is important to stay on topic and be respectful of the feelings and grave nature of posts which might appear here. This list is a means of networking and communication for individuals concerned with the various genetically-transmitted diseases existing within Jewish populations. Everyone is invited to participate, however, because diseases common among Jewish people may, and almost always do, affect individuals from all of the world's cultural and ethnic groups.
Tay Sachs Disease - Information And Support Resources
, NeimanPick. ?, tay-sachs disease. ?, Ulcerative Colitis. Interactive ?. ?, Jewish Genetic Diseases Boards. tay-sachs disease.
http://www.mazornet.com/genetics/tay-sachs.asp

Extractions: Tay-Sachs Disease Tay-Sachs disease, the most well known Jewish genetic disease, is an inherited metabolic disorder. The basic defect in affected children is the deficiency of an enzyme, hexosaminidase A. Without Hex A, a fatty substance called GM2 ganglioside accumulates abnormally in cells especially in nerve cells of the brain. This continual accumulation causes progressive damage to the cells. There are two forms of this disease, the well known infantile-onset form and a lesser known, late-onset or adult form designated "chronic GM2-gangliosidosis".
Tay-Sachs Disease
taysachs disease. Classical tay-sachs disease is an especially tragic inheritedbirth defect. For more Information about tay-sachs disease Contact
http://gunsmoke.ecn.purdue.edu/~kpasquet/project/tays.html

Extractions: Children with juvenile hex A deficiency develop symptoms between the ages of 2 and 5 years that closely resemble the symptoms of the classical, infantile form. Though the course of the disease is slower, death generally occurs by age 15. Symptoms of chronic hex A deficiency also may begin by age 5, but are far milder than those that characterize the infantile and juvenile forms. Mental abilities, vision and hearing remain intact; but affected individuals develop slurred speech, muscle weakness, muscle cramps, tremors, unsteady gait and sometimes mental illness. Doctors have only recently discovered that symptoms of hex A deficiency may not begin until adulthood. Individuals with adult-onset hex A deficiency experience many of the same variable symptoms as individuals with chronic hex A deficiency, but symptoms begin later in life. You can take a blood test to see if you are a carrier. This test measures the amount of the hex A enzyme in your blood. Tay-Sachs carriers have about half as much of the enzyme as non-carriers, but this is plenty for the carrier's own needs. A blood sample also can be used to perform genetic testing. Doctors have recently developed tests that look for known mutations (changes) in the hex A gene that cause the four forms of Tay-Sachs disease. Genetic testing may be recommended if the results of the usual carrier screening test discussed above are uncertain. Genetic tests also can be used to diagnose late-onset forms of hex A deficiency. Tragically, there is no cure and no treatment that will prevent the disease from running its course. Affected children can only be made as comfortable as possible.
Tay-Sachs Disease - DrGreene.com - Caring For The Next Generation
taysachs disease. Also known as Gangliosidosis, TSD Introduction Thestory of tay-sachs disease is one of heartbreaking poignancy.
http://www.drgreene.com/21_1202.html

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