81. The DRM WebWatcher: Tay-Sachs Disease taysachs disease (TSD) is a fatal genetic disorder in children that causes progressive destruction of the central nervous system. http://www.disabilityresources.org/TAY.html

Home Subjects States Librarians ... Contact Us The DRM WebWatcher (Subjects) Tay-Sachs Disease Updated 5/2004 A B C D ... About/Hint/Link Tay-Sachs disease (TSD) is a fatal genetic disorder in children that causes progressive destruction of the central nervous system. For information about this fatal genetic disorder, check these sites. Fact Sheets NINDS Tay-Sachs Disease Information Page (National Institute of Neurological Disorders and Stroke) Tay Sachs Disease (National Organization for Rare Disorders) Tay-Sachs Disease Online Mendelian Inheritance In Man) Websites Late-Onset Tay-Sachs Foundation An excellent resource for information about this newly recognized and relatively rare form of Tay-Sachs, this website offers medical information from Massachusetts General Hospital and back issues of the Foundation's newsletter. The Association's website includes fact sheets about Tay-Sachs Disease and numerous allied diseases (Late-Onset Tay-Sachs Disease, Sandhoff Disease, Fabry Disease, Gaucher Disease, Niemann-Pick Disease, Canavan Disease), as well as information about the organization, links, and suggested readings. Related Subjects Rare Disorders Resources in your state (c) 1997-2002 Disability Resources, inc.

82. Jewish Genetic Diseases Program - What Is A Jewish Genetic Disease taysachs disease. tay-sachs disease is a progressive neurological condition that begins during infancy. Deterioration of the central http://www.sbhcs.com/genetics/offer/tay.html

Tay-Sachs disease TAY-SACHS disease is a progressive neurological condition that begins during infancy. Deterioration of the central nervous system becomes apparent at about 6 months of age. Symptoms include loss of coordination, blindness, deafness, seizures and severe mental retardation. There is no cure at the present time and average life expectancy is about 3-5 years. A variation, called “Late-Onset Tay-Sachs disease,” affects people in childhood to adulthood and leads to a slower degeneration in the nervous system. Approximately 1 in 25 Ashkenazi Jews are carriers. Tay-Sachs is caused by an enzyme deficiency. The preferred testing method involves measurement of the enzyme level. The carrier detection rate, using this technique, is about 99%. In some cases, DNA mutation analysis is also used to clarify enzyme results. The DNA carrier detection rate is about 94% in the Ashkenazi Jewish population. Resources: 2001 Beacon Street Brighton, MA

83. Tay-Sachs Disease Diseases, Conditions and Injuries. taysachs disease. by Jenna Hollenstein, MS, RD. Definition. tay-sachs disease (TSD) is a fatal genetic disorder. http://www.somersetmedicalcenter.com/1785.cfm

Community Advisor Search Send to a friend Home  Diseases, Conditions and Injuries Tay-Sachs Disease by Jenna Hollenstein, MS, RD Definition Causes Risk Factors ... Organizations Definition Tay-Sachs disease (TSD) is a fatal genetic disorder. It occurs when harmful amounts of ganglioside GM2, a fatty substance, accumulate in and progressively destroy the brain's nerve cells. Given the best of care, all children with TSD die by the age of five. Causes TSD is caused by the absence of the enzyme hexosaminidase A. This enzyme breaks down GM2. TSD is controlled by a pair of genes on chromosome 15. TSD carriers have one copy of an active gene and one copy of an inactive gene. TSD occurs when both parents pass on the inactive gene to their child. Risk Factors A risk factor is something that increases your chance of getting a disease or condition. Having parents who are carriers of the TSD gene Race: of eastern European (Ashkenazi) Jewish descent Symptoms Babies with TSD may seem to develop normally until about 3-6 months of age when there is an arrest of development and symptoms begin to occur. Symptoms may include: Floppy body position Shrill cry Enlarged head Vision loss or blindness Deafness Difficulty swallowing Slurred speech Muscular difficulties, such as:

84. General Term: Tay-Sachs Disease taysachs disease. tay-sachs disease results in the deterioration of the nervous system, usually resulting in death before the patient http://www.meta-library.net/biogloss/tays-body.html

Tay-Sachs Disease Tay-Sachs disease results in the deterioration of the nervous system, usually resulting in death before the patient reaches age 5. It is caused by the absence of an enzyme which breaks down lipids, resulting in a lethal accumulation in cells. There is no treatment, but potential parents can be identified as carriers for the disease with a blood test. Related Topics: Genetics Contributed by: CTNS Search for Tay-Sachs Disease Full Glossary Index To return to the previous topic, click on your browser's 'Back' button.

85. TAY-SACHS DISEASE - Meaning And Definition Of The Word Search Dictionary taysachs disease Dictionary Entry and Meaning. WordNet Dictionary. http://www.hyperdictionary.com/dictionary/Tay-Sachs disease

English Dictionary Computer Dictionary Thesaurus Dream Dictionary ... Medical Dictionary Search Dictionary: TAY-SACHS DISEASE: Dictionary Entry and Meaning WordNet Dictionary Definition: [n] a hereditary disorder of ... childhood Synonyms: infantile amaurotic idiocy Sachs disease Tay-Sachs See Also: autosomal recessive defect autosomal recessive disease lipidosis monogenic disease ... monogenic disorder Medical Dictionary Definition: A recessive genetic disorder common among Ashkenazi Jews in which the enzyme needed to break down certain lipids is absent. Biology Dictionary Definition: A genetic disease that affects the brain and nerves which is caused by a recessive gene that causes abnormal lipid metabolism (it causes a deficiency in the enzyme beta-N-Acetylhexosaminidase A, which leads to an accumulation of ganglioside, which then damages and finally kills nerve cells). It occurs almost exclusively among people of eastern European Jewish ancestry (specifically, the Ashkenazi Jews). Neurologic problems appear early in an affected infant's development; deterioration starts around 3 months of age and the symptoms are obvious by 12 months of age. The disorder causes mental and physical retardation, blindness, convulsions and finally death when the child is between 2 and 5 years of age. Glossary Definition: an enzyme deficiency of lipid metabolism inherited as a recessive; causes death in early childhood.

86. Information Headquarters: Tay-Sachs Disease taysachs disease. Tay-Sachs the brain. Infants with tay-sachs disease appear to develop normally for the first few months of life. http://www.informationheadquarters.com/Disease/Tay-Sachs_Disease.shtml

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87. Tay-Sachs Disease taysachs disease. tay-sachs disease is an inherited condition that usually causes death by the age of three or four. Symptoms. Tay http://www.cedars-sinai.edu/5566.html

Home Medical Dictionary Contact Us About Us ... Tay-Sachs Disease Tay-Sachs Disease Tay-Sachs disease is an inherited condition that usually causes death by the age of three or four. Symptoms Tay-Sachs is marked by developmental problems that start early and gradually get worse. Symptoms include paralysis, mental confusion, blindness and red spots in the retina at the back of the eye. Causes and Risk Factors A recessive gene is at the root of this disorder. (When a gene is recessive, it means that a child must inherit the gene from both parents for the condition to develop.) The gene is more common in Jewish families of Eastern European heritage. Tay-Sachs patients lack a certain enzyme that causes problems in the brain. (An enzyme is a type of complex protein produced by the cells that helps start certain biological and chemical reactions inside the body.) Diagnosis There is no cure for this condition. Before starting a family, it is important to seek genetic screening and counseling. The amniotic fluid that surrounds the baby in the womb can be tested before the baby is born (prenatal diagnostic testing) to find out if the baby has inherited a pair of the gene that causes Tay-Sachs.

88. Brain Foundation - Tay-Sachs Disease . tay-sachs disease (TSD) is a fatal inherited (genetic) disorder of the central nervous system....... taysachs disease. http://www.brainaustralia.org.au/AZ_of_Brain_Disorders/taysachs_disease

Home About Us The Brain Healthy Brain ... Site Map DHTML_MENU_rel_path = '/squizlib/dhtml_menu/images/'; Tay-Sachs Disease Description Tay-Sachs disease (TSD) is a fatal inherited (genetic) disorder of the central nervous system. Infants with the disorder appear to develop normally for the first few months of life, then at about the age of six months of age, a deterioration of mental and physical abilities begins. The child stops smiling, crawling or turning over, loses their ability to grasp or reach out, and gradually becomes blind and paralysed. It affects both male and female babies. TSD is most common amongst descendants of Central and Eastern European (Ashkenazi) Jews and some French Canadians. TSD is caused by inheriting a 'double-dose' of a fault in a gene which codes for the Hex-A enzyme. Every person has two copies of this gene in each cell of their body. A person will only be affected by TSD if they have a fault (mutation) in both copies of the Hex-A gene. This can only happen if one faulty copy is inherited from each parent. About one in every 26 Ashkenazi Jews and 1 in every 40 French Canadians carries one copy of the faulty gene and one regular copy of the gene. In the general population, however, only about one in 300 people carry a faulty copy of the Hex-A gene. Carriers are not themselves affected by the disease. If both parents carry a copy of the faulty gene then there is a 1-in-4 (25%) chance that the child will inherit the faulty Hex-A gene from both parents. This child will be affected by Tay-Sachs disease. The chance remains the same for each pregnancy.

89. Science Museum | Your Genes | Tay-Sachs Disease taysachs disease. tay-sachs disease is a rare and extremely severe genetic condition that affects the brain and nerves. A baby with http://www.sciencemuseum.org.uk/exhibitions/genes/230.asp

Home Your genes Genes and inheritance Genes and families ... Recessive inheritance Tay-Sachs disease Tay-Sachs disease is a rare and extremely severe genetic condition that affects the brain and nerves. A baby with Tay-Sachs disease appears normal at birth, but development starts to slow down at about 6 months of age. Gradually, the child becomes blind, deaf and paralysed. Children with Tay-Sachs disease usually die before the age of five. There is no cure for this devastating disorder, and no effective treatment. The retina in the eye of a child with Tay-Sachs disease showing the characteristic 'cherry-red' spot. Jewish Care (www.jewishcare.org) Understanding Tay-Sachs disease How is Tay-Sachs disease inherited? next section: Cystic fibrosis ... Shop

90. Philly Health Info : Diseases & Conditions : Tay-Sachs Disease Home Diseases Conditions taysachs disease. Contents of this section Recommended Sites, Regional Services, tay-sachs disease. Recommended Sites, more . http://www.phillyhealthinfo.org/dc3.php?section=1&topic=180

91. Tay-Sachs: What Is It? National taysachs Allied disease Association Inc. link. DNA Learning Center Link. Concept 1 Children resemble their parents. Learn http://www.yourgenesyourhealth.org/tay/whatisit.htm

Concept 1 : Children resemble their parents. Learn how Mendel worked out inheritance in pea plants. Concept 10 : Chromosomes carry genes. Find out how genes are arranged on chromosomes. Concept 27 : Mutations are changes in genetic information. Find out how mutations affect gene expression.

92. Ask NOAH About: Neurological And Neuromuscular Disorders Reflex Sympathetic Dystrophy Restless Legs Syndrome Spina Bifida Hydrocephalus Spinal Cord Injuries and Disorders Stroke Tay Sachs disease Tourette Syndrome http://www.noah-health.org/english/illness/neuro/neuropg.html

Ask NOAH About: Neurological and Neuromuscular Disorders Specific Neurological and Neuromuscular Disorders Alzheimer's Disease and Dementia Amyotrophic Lateral Sclerosis (Lou Gehrig's Disease) Arnold Chiari Malformation Batten Disease ... Information Resources Neurological and Neuromuscular Disorders Amyotrophic Lateral Sclerosis (Lou Gehrig's Disease) The Basics ALS - National Institute of Neurological Disorders and Stroke (Also in Spanish ALS, MS, MD: What's the Difference - Center for Neurological Study ALS Dictionary - ALS Survival Guide Amyotrophic Lateral Sclerosis (ALS) - Methodist Health Care System, Houston TX (also in Spanish Amyotrophic Lateral Sclerosis (ALS) - MEDLINEplus (also in Spanish ) (Interactive Flash Presentation) Amyotrophic Lateral Sclerosis: Lou Gehrig's Disease - American Academy of Family Physicians Fact Sheet: ALS - Family Caregiver Alliance Facts About Amyotrophic Lateral Sclerosis (ALS) - Muscular Dystrophy Association Facts about Amyotrophic Lateral Sclerosis (ALS) - MDA ... What You Need to Know About Amyotrophic Lateral Sclerosis - Cleveland Clinic Foundation Diagnosis ALS Diagnosis - North Shore-Long Island Jewish Health System, NY

93. TAY SACHS DISEASE : Contact A Family - For Families With Disabled Children: Info 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

printer friendly TAY SACHS DISEASE home more about us in your area conditions information ... how you can help search this site Did you find this page helpful? yes no 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 Autosomal recessive inheritance. 1 in 25 Ashkenazi Jews and 1 in 250 of the general population are carriers of this disease. Carrier detection is available through genetic clinics.

94. Late Onset Tay-Sachs Foundation http://www.lotsf.org/

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95. 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

96. Late Onset Tay-Sachs - MGH LATE ONSET taysachs Massachusetts General Hospital Department of Neurology. Extensive information about Late Onset tay-sachs can be found at the website of the. http://neuro-oas.mgh.harvard.edu/lots/main.html

LATE ONSET TAY-SACHS Massachusetts General Hospital Department of Neurology This site is no longer maintained. Extensive information about Late Onset Tay-Sachs can be found at the website of the Late Onset Tay-Sachs Foundation http://www.lotsf.org

97. Tay Sachs' Disease Tay sachs disease,. Print this article, (Warren Tay, 18431927, English physician, and Bernard Parney Sachs, 18581944, American neurologist http://www.amershamhealth.com/medcyclopaedia/medical/Volume VI 1/TAY SACHS DISE

Amershamhealth.com Search for: Type a word or a phrase. All forms of the word are searchable. Browse entry words starting with: A B C D ... Other characters Tay sachs' disease, (Warren Tay, 18431927, English physician, and Bernard Parney Sachs, 18581944, American neurologist), an autosomal recessive inherited disorder of GM2 ganglioside metabolism, with accumulation of large amounts of ganglioside in the brain. It belongs to the larger group of gangliosidosis and of lysosomal diseases . Three different forms are described, B, O and AB with infantile, juvenile and adult presentations. Psychomotor retardation, hypotonia followed by spasticity, dystonia, chorea and athetosis, and epileptic seizures may be variably present. A characteristic finding at fundoscopic examination is a cherry-red spot in one or both maculae. CT scan typically shows homogeneously and symmetrically increased density within the thalami. MR may show high signal intensity on T2-weighted images in the caudate nucleus, globus pallidum and putamen on both sides. Diffuse cerebral atrophy is present in late stages. GS The Encyclopaedia of Medical Imaging Volume VI:1 Contacts GE Healthcare Making Waves

98. KinderStart - Health/Medical/Dental : Major Diseases/Conditions : Tay Sachs Dise Home Health/Medical/Dental Major diseases/Conditions Tay Sachs disease. Web Pages. The following links are in English About http://www.kinderstart.com/healthmedicaldental/majordiseasesconditions/taysachsd

KinderStart Alta Vista Ask Jeeves Excite Google HotBot GO LookSmart Lycos Webcrawler Adoption Animal Friends Bringing Home Baby Child Development ... Major Diseases/Conditions : Tay Sachs Disease Web Pages The following links are in English About Tay-Sachs Disease Tay-Sachs is an inherited disease which strikes young children. It causes progressive destruction of the central nervous system and death by five years of age. Add/View Comments Rate this Site Helpful Information About Tay Sachs Information about Tay-Sachs Disease On the Web Add/View Comments Rate this Site Late-Onset Tay-Sachs Foundation Welcome to the Late-Onset Tay-Sachs Foundation 1303 Paper Mill Road Erdenheim, PA 19038 (800) 672-2022 (215) 836-9426 Add/View Comments Rate this Site 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. Add/View Comments Rate this Site NINDS Tay-Sachs Disease Information NINDS Tay-Sachs Disease Information Page Add/View Comments Rate this Site Spinal Cord Injury Network International SCINI is a non-profit organization dedicated to facilitating access to quality health care by providing information and referral services to spinal-cord-injured individuals and their families.

99. Diagnosis - Tay Sachs Disease Prevention Program people of childbearing age who have not been part of the schools program, about Tay Sachs disease and carrier testing. Our website (www.taysachs.net) outlines http://www.genetichealthvic.net.au/pages/diagnosis/taysachs.html

laboratory clinical Home diagnosis ... clinical Tay Sachs Disease Prevention Program 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. More than 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.

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