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| | Tay-Sachs & Canavan Diseases :: What is Tay-Sachs Disease? |
 | | the fact that there is no family history of Tay-Sachs disease does not lower an individual's risk of being a carrier. | | | Tay-Sachs is an inherited disease that only occurs when both parents carry a Tay-Sachs gene and each parent transmits the defective gene to their child. | | | A baby with Tay-Sachs disease appears healthy at birth, and seems to be developing normally for a few months. |
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http://www.tay-sachs.org/taysachs.php
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| | Tay-Sachs disease |
| | This child will be affected by Tay-Sachs disease (figure D). | | | Genetic carriers of Sandhoff disease, a disease with a similar presentation to TSD, are also detected incidentally when testing for TSD since the same enzyme test is involved. | | | People who have a known family history of TSD should seek further information through genetics counselling (telephone: (61) 2 9926 7324). |
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http://www.palmslab.com.au/Education/Genetics/taysachs.shtml
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| | Medical References: Tay-Sachs Disease |
| | Your doctor can tell you where testing is available or you can contact the National Tay-Sachs and Allied Diseases Association for information. | | | If only one parent is a carrier, none of their children can have the disease, but each child has a 50-50 chance of inheriting the Tay-Sachs gene and being a carrier. | | | 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. |
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http://www.marchofdimes.com/professionals/681_1227.asp
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| | Tay-Sachs Disease |
| | Although there is little that can be done to prolong or enhance the life of a child stricken with Tay-Sachs disease, there are several steps you can take to minimize the risk of giving life to such a child. | | | Tay-Sachs disease is a rare, fatal, hereditary disorder in which large and damaging quantities of a fatty substance called ganglioside GM accumulate in the brain, causing gradual deterioration. | | | The disease typically starts with a decline in motor skills and muscle tone. |
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http://www.healthsquare.com/mc/fgmc9049.htm
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| | Tay-Sachs disease - Wikipedia, the free encyclopedia |
| | "Late-onset Tay-Sachs disease: phenotypic characterization and genotypic correlations in 21 affected patients". | | | The disease is named after the British ophthalmologist Warren Tay who first described the red spot on the retina of the eye in 1881, and the American neurologist Bernard Sachs who described the cellular changes of Tay-Sachs and noted an increased prevalence in the Eastern European Jewish (Ashkenazi) population of 1887. | | | The disease results from mutations on chromosome 15 in the HEXA gene encoding the alpha-subunit of the lysosomal enzyme beta-N-acetylhexosaminidase A. This enzyme is necessary for breaking down N-galactosamine from GM2 gangliosides in brain and nerve cells. |
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http://en.wikipedia.org/wiki/Tay-Sachs_disease
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| | Bibliography: Tay Sachs Disease |
| | Screening for carriers of Tay-Sachs disease in the ultraorthodox Ashkenazi Jewish community in Israel. | | | Prenatal testing for Tay-Sachs disease in the light of Jewish views regarding abortion. | | | Role of the physician in screening for carriers of Tay-Sachs disease. |
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http://www.csu.edu.au/learning/ncgr/gpi/grn/edures/elsi.tc10f.html
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| | Tay Sachs Disease |
| | NOAH > Brain and Nervous System > Specific Nervous System Disorders > Tay Sachs Disease | | | All medical information needs to be carefully reviewed with your health care provider. | | | DISCLAIMER: NOAH is an information guide only and cannot answer personal health-related or research questions. |
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http://www.noah-health.org/en/bns/disorders/taysachs
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| | MedlinePlus Medical Encyclopedia: Tay-Sachs disease |
| | There is no treatment for Tay-Sachs disease itself, only ways to make the patient more comfortable. | | | Tay-Sachs disease is a familial disorder (it affects more than 1 member of a family) that results in early death. | | | 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). |
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http://www.nlm.nih.gov/medlineplus/ency/article/001417.htm
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| | © The Centre for Genetics Education |
| | This condition is named after a physician, Dr Bernard Sachs, who noted in 1887 that a number of children of Central and Eastern Europe (Ashkenazic) Jewish ancestry, who were born with no apparent problems, degenerated physically and mentally and died by the age of about four. | | | TSD is most common amongst descendants of Central and Eastern European (Ashkenazi) Jews, although the disease does occur rarely in people from other population groups. | | | Genetic screening may also be available to determine if an individual is a genetic carrier of TSD even if there is no family history of the condition. |
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http://www.genetics.com.au/factsheet/35.htm
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| | Tay-Sachs Disease |
| | Tay-Sachs disease (TSD) is a fatal genetic disorder. | | | Your are here: Home > Diseases, Conditions & Injuries > Tay-Sachs Disease | | | The doctor will ask about your child's symptoms and medical history, and perform a physical exam. |
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http://www.al-hikmah.org/tay-sachs-disease.asp
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| | Tay-Sachs disease on Encyclopedia.com |
| | 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. | | | TAY-SACHS DISEASE [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. | | | When both parents are carriers, each child has a 25% chance of getting the disease. |
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http://www.encyclopedia.com/html/t/tay-s1ach.asp
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| | Tay-Sachs disease |
| | Sadly, the prognosis for a child with classic Tay-Sachs disease is certain death. | | | Rosebush, Patricia I. "Late-Onset Tay-Sachs Disease Presenting as Catatonic Schizophrenia: Diagnostic and Treatment Issues." Journal of the American Medical Association 274, no. 22 (December 13, 1995): 1744. | | | Tay-Sachs disease is a genetic disorder caused by a missing enzyme that results in the accumulation of a fatty substance in the nervous system. |
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http://www.healthatoz.com/healthatoz/Atoz/ency/tay-sachs_disease.jsp
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| | genome.gov Learning About Tay-Sachs Disease |
| | There is no cure or effective treatment for Tay-Sachs disease. | | | Tay-Sachs disease (TSD) is a fatal genetic disorder, most commonly occurring in children, that results in progressive destruction of the nervous system. | | | Tay-Sachs disease is controlled by a pair of genes on chromosome 15 which code for production of the enzyme Hex-A. If either or both Hex-A genes are active, the body produces enough of the enzyme to prevent the abnormal build-up of the GM2 ganglioside lipid. |
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http://www.genome.gov/10001220
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| | National Tay-Sachs & Allied Diseases Association |
| | The National Tay-Sachs and Allied Diseases Association (NTSAD) is dedicated to the treatment and prevention of 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. | | | If you are a newly diagnosed parent or individual, please contact the NTSAD office (800-906-8723 or Info@ntsad.org) to receive a free information packet about Tay-Sachs, Late Onset Tay-Sachs or any allied disease. | | | The basis of genetics for the Allied Diseases. |
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http://www.ntsad.org
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| | Tay-Sachs disease - Genetics Home Reference |
| | Tay-Sachs disease is a rare inherited disorder that causes progressive destruction of nerve cells in the brain and spinal cord. | | | Mutations in the HEXA gene cause Tay-Sachs disease. | | | Users seeking information about a personal genetic disease, syndrome, or condition should consult with a qualified healthcare professional. |
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http://ghr.nlm.nih.gov/condition=taysachsdisease
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| | ENLmedical.com: Conditions And Concerns: Medical Encyclopedia: Tay-Sachs disease |
| | ENLmedical.com: Conditions And Concerns: Medical Encyclopedia: Tay-Sachs disease | | | Tay-Sachs disease is caused by an deficiency of hexosaminidase, an exzyme that is important in the metabolism of gangliosides (a fatty acid). | | | Tay-Sachs disease is inherited as a recessive gene. |
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http://www.enlmedical.com/article/001417.htm
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| | MedlinePlus: Tay-Sachs Disease |
| | The primary NIH organization for research on Tay-Sachs Disease is the National Institute of Neurological Disorders and Stroke | | | Lipid Storage Diseases (National Institute of Neurological Disorders and Stroke) | | | Sandhoff Disease (National Institute of Neurological Disorders and Stroke) - Short Summary |
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http://www.nlm.nih.gov/medlineplus/taysachsdisease.html
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| | Tay-Sachs disease/other |
| | Sandhoff Disease, Fabry Disease, Gaucher Disease, Niemann-Pick Disease, Canavan Disease, disorders of lipid and sphingloid degradation, mucopolysaccharide degradation, glycoprotein degradation, lysosomal storage, non-lysosomal diseases, and storage disorders |
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http://www.kumc.edu/gec/support/tay-sach.html
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| | AllRefer.com - Tay-Sachs disease (Pathology) - Encyclopedia |
| | 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. | | | More articles from AllRefer Reference on Tay-Sachs disease | | | Tay-Sachs disease[tA´-saks´] Pronunciation Key, 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. |
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http://reference.allrefer.com/encyclopedia/T/Tay-Sach.html
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| | Tay-Sachs Disease / Family Village Library |
| | The National Tay-Sachs & Allied Diseases Association (NTSAD) is dedicated to the treatment and prevention of 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. | | | 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. | | | This list is a means of networking and communication for individuals concerned with the various genetically-transmitted diseases existing within Jewish populations. |
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http://www.familyvillage.wisc.edu/lib_tays.htm
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| | Tay-Sachs disease - Hutchinson encyclopedia article about Tay-Sachs disease |
| | This information should not be considered complete, up to date, and is not intended to be used in place of a visit, consultation, or advice of a legal, medical, or any other professional. | | | Inherited disorder, due to a defective gene, causing an enzyme deficiency that leads to blindness, retardation, and death in infancy. |
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http://encyclopedia.farlex.com/Tay-Sachs%20disease
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| | Tay-Sachs Disease |
| | Tay-Sachs disease is an inherited condition that usually causes death by the age of three or four. | | | Tay-Sachs is marked by developmental problems that start early and gradually get worse. |
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http://www.csmc.edu/5566.html
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| | GeneDis Tay-Sachs Mutations Web Site |
| | Tay-Sachs disease is a autosomal recessive, progressive neurodegenerative disorder, caused due to mutations in the HexA gene. | | | 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. | | | Bioinformatics Unit, G.S. Wise Faculty of Life Sciences, Tel Aviv University, Israel. |
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http://life2.tau.ac.il/GeneDis/Tables/Tay_Sachs/tay_sachs.html
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| | NORD - National Organization for Rare Disorders, Inc. |
| | This is the list of diseases currently covered in the Rare Disease Database. | | | Many libraries, schools, universities, and hospitals subscribe to NORD's Rare Disease Database for unlimited access to reports on more than 1,150 diseases. | | | Search this database for reports on more than 1,150 diseases. |
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http://rarediseases.org/search/rdbdetail_abstract.html?disname=Tay+Sachs+...
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| | OMIM Entry 268800 |
| | Studies of autopsy samples of brain and spinal cord from human Tay-Sachs and Sandhoff diseases revealed apoptosis in both instances, in keeping with the severe expression of both diseases. | | | Most patients have been non-Jewish; however, the clinical and pathologic picture is very similar to Tay-Sachs disease ( 272800). | | | Genotyping individuals for Tay-Sachs disease (TSD) is based mainly on the heat lability of beta-hexosaminidase (Hex) A and the heat stability of Hex B. Mutations in the HEXB gene encoding the beta subunits of Hex that result in heat-labile hexosaminidase B thus may lead to erroneous enzymatic genotyping regarding TSD. |
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http://www.hgmp.mrc.ac.uk/cgi-bin/wrapomim?268800
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| | What is Batten's Syndrome |
| | Subsequently, however, the pathomorphological studies of Schaffer made these authors change their minds to the extent that they reclassified their respective observations as variants of Tay-Sachs Disease, which caused confusion, lasting about 50 years. | | | Simultaneously, Terry and Korey and Svennerholm demonstrated a specific ultrastructure and biochemestry for Tay Sachs Disease, and these developments led to the distinct identification and also separation of the NCLs from Tay Sachs Disease by Zeman and Donahue. | | | At that time, it was proposed that the Late Infantile (Jansky-Bielschowsky), the Juvenile (Spielmeyer-Vogt), and the adult form (Kufs) were quite different from Tay-Sachs Disease with respect to chemical pathology and ultrastructure and also different from other forms of sphingolipidoses. |
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http://www.jordanforbatten.aunz.org/battens_description.htm
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| | International MPS Societies |
| | Part of their research focuses on Mucolipidosis IV and GM-2 Gangliosidosis (Tay-Sachs disease). | | | NSTAD is dedicated to the treatment and prevention of Tay-Sachs and related diseases, and to providing information and support services to individuals and families affected by these diseases, as well as the public at large. | | | There are links for the latest news, a message board, information on the disease and therapies, as well as family stories and advice for raising a "Krabbes Kid". |
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http://www.kassiescourage.com/links.htm
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| | The DRM WebWatcher: Tay-Sachs Disease |
| | Tay-Sachs disease (TSD) is a fatal genetic disorder in children that causes progressive destruction of the central nervous system. | | | 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. | | | NINDS Tay-Sachs Disease Information Page (National Institute of Neurological Disorders and Stroke) |
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http://www.disabilityresources.org/TAY.html
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| | Introduction: Tay Sachs - WrongDiagnosis.com |
| | Treatments for Tay Sachs: Various information is available about treatments available for Tay Sachs, or research treatments for other diseases. | | | Tay Sachs: Tay-Sachs disease is a fatal genetic disorder in which harmful quantities of a fatty substance called ganglioside GM2 accumulate in the nerve cells in the brain. | | | Researching symptoms of Tay Sachs: Further information about the symptoms of Tay Sachs is available including a list of symptoms of Tay Sachs, or alternatively return to research other symptoms in the symptom center. |
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http://www.wrongdiagnosis.com/t/tay_sachs/intro.htm
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