21. Center For Jewish Genetic Disorders | Tay-Sachs Disease taysachs disease is the most familiar of the Jewish genetic disorders.Babies with tay-sachs disease are normal at birth. However http://www.jewishgenetics.org/taysac.htm

Tay-Sachs disease is the most familiar of the Jewish genetic disorders. Babies with Tay-Sachs disease are normal at birth. However, at 3-6 months of age, an affected baby will begin to lose developmental skills. Tay-Sachs disease is caused by a deficiency of an enzyme called hexosaminidase A or hex A. Lack of this enzyme affects the brain and the nervous system causing rapid and progressive deterioration. This condition is life shortening with death usually occurring by the age of 6. No effective treatment is available at this time. Disease frequency: Potentially 1in 2,500 in the Jewish population. Frequency decreased through success of carrier screening programs. Carrier frequency: 1/26 - 1/30 in Jews, 1/300 in non-Jewish population. Diagnosis: By measuring for deficiency of enzyme hex A in blood. Inheritance: Autosomal Recessive Carrier testing: By measuring for deficiency of hex A in blood and genetic testing of the Tay-Sachs gene. Prenatal diagnosis: Possible by genetic testing of the Tay-Sachs gene or testing for deficiency of enzyme hex A.

22. UMMC - Tay-Sachs Disease Jewish Health taysachs disease. What is tay-sachs disease? tay-sachs disease(TSD early death of children. What causes tay-sachs disease? http://www.med.umich.edu/1libr/multicul/jew02.htm

Multicultural Health Health Topics A-Z Jewish Health Tay-Sachs Disease What is Tay-Sachs Disease? What causes Tay-Sachs Disease? When do symptoms begin to occur? How do the symptoms progress? ... How can I schedule an appointment with Pediatric Genetics? What is Tay-Sachs Disease? Tay-Sachs Disease (TSD) is a fatal genetic disorder that causes progressive destruction of the central nervous system resulting in the early death of children. What causes Tay-Sachs Disease? TSD is caused by the absence of a vital enzyme called hexosaminidase A (Hex-A). Without Hex-A, a fatty substance called GM2 ganglioside accumulates abnormally in cells, especially in the nerve cells of the brain. This ongoing accumulation causes progressive damage to the cells. When do symptoms begin to occur? The destructive process begins in the fetus early in pregnancy, although the disease is not clinically apparent until the child is several months old. How do the symptoms progress?

23. Tay-Sachs Disease taysachs disease. Click Here. tay-sachs disease an enzyme deficiency of lipidmetabolism inherited as a recessive; causes death in early childhood. http://www.webref.org/anthropology/t/tay-sachs_disease.htm

Tay-Sachs disease Free T-Mobile Long Distance Tay-Sachs disease: an enzyme deficiency of lipid metabolism inherited as a recessive; causes death in early childhood. Source: Anthromorphemics Questia - The Online Library Back Next tactile pads tang ... taxonomy Tay-Sachs disease tectonic movements tectonic plate tell telocentric chromosome ... Tabularium™ WebRef™ Search WWW Search webref.org Digital River: Get amazing deals on great software! Iverson Software Co., 506 Genesis Ave., Marshall MN 56258-3110 Email WebMaster PRIVACY POLICY This site hosted by EASY CGI Web Hosting

24. Tay-Sachs Disease/other taysachs disease and other conditions. tay-sachs disease Information Sheet, Marchof Dimes; Tay Sachs Disease, National Organization for Rare Disorders; http://www.kumc.edu/gec/support/tay-sach.html

Tay-Sachs Disease and other conditions 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 2001 Beacon Street, Suite 204 Brookline, MA 02135 Phone: 800-906-8723 or (617) 277-4463 Fax: 617-277-0134 Email: NTSAD-Boston@worldnet.att.net Web site: http://www.ntsad.org Late-Onset Tay-Sachs Foundation 1303 Paper Mill Road Erdenheim, PA 19038 Phone: 1-800-672-2022 or 1-215-836-9426 National Foundation for Jewish Genetic Disease, Inc. 250 Park Ave, Suite 1000 New York, NY 10017 Phone: (212) 371-1030 Also See: National organizations genetic conditions or birth defects National Health Information Center Tay-Sachs Disease Information Sheet , March of Dimes Tay Sachs Disease , National Organization for Rare Disorders Tay-Sachs Disease , National Institute of Neurological Disorders and Stroke, National Institutes of Health Late Onset Tay-Sachs , Massachusetts General Hospital Canavan disease To locate a genetic counselor or clinical geneticist in your area: Professional Genetics Societies Genetic clinics, centers, departments

25. Tay-Sachs Disease What is taysachs disease? THE brain. Infants with tay-sachs diseaseappear to develop normally for the first few months of life. http://www.mamashealth.com/tay.asp

Mamashealth.com Home Category Links About Us Allergies Cancers Types of Diabetes ... Buy Health Books Links Add Mamashealth to your favorites Email Mama Floral Gift for your Loved Ones Tell A Friend about MAMA! ... Join Mamas Mailing List Donate $$$ and help support Mamashealth.com What is Tay-Sachs Disease? THE CLASSICAL FORM OF TAY-SACHS disease (TSD) is a fatal, recessive genetic disorder in children that causes progressive destruction of the central nervous system. When a person has Tay-Sachs disease, harmful quantities of a fatty substance called ganglioside GM2 accumulate in the nerve cells in the brain. Infants with Tay-Sachs disease appear to develop normally for the first few months of life. Then, as nerve cells become distended with fatty material, a relentless deterioration of mental and physical abilities occurs. The child becomes blind, deaf, and unable to swallow. Muscles begin to atrophy and paralysis sets in. Tay-Sachs is named after Warren Tay (1843-1927) and Bernard Sachs (1858-1944). Warren Tay was a British ophthalmologist who in 1881 described a patient with a cherry-red spot on the retina of the eye. Bernard Sachs was 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.

26. HONselect - Tay-Sachs Disease Translate this page English tay-sachs disease, - G(M2) Gangliosidosis, Type I - GM2 Gangliosidosis,Type I - Gangliosidosis G(M2), Type I - Gangliosidosis GM2, Type I http://www.hon.ch/HONselect/RareDiseases/C10.228.140.163.474.475.600.300.850.htm

List of rare diseases: English Deutsch Language: MeSH term: Accepted terms: English: Tay-Sachs Disease - G(M2) Gangliosidosis, Type I - GM2 Gangliosidosis, Type I - Gangliosidosis G(M2), Type I - Gangliosidosis GM2, Type I - Hexosaminidase A Deficiency Disease - Deficiency Disease Hexosaminidase A Français: TAY-SACHS, MALADIE Deutsch: Tay-Sachs-Krankheit - Beta-N-Acetylhexosaminidase - Gangliosidose-GM2, Typ I - Gangliosidose-G(M2), Typ I - GM2-Gangliosidose, Typ I - G(M2)-Gangliosidose, Typ I - Hexosaminidase-A-Mangelkrankheit Español: ENFERMEDAD DE TAY-SACHS - GANGLIOSIDOSIS G(M2) TIPO I - GANGLIOSIDOSIS TIPO I GM2 - GANGLIOSIDOSIS GM2 TIPO I - ENFERMEDAD POR DEFICIENCIA DE HEXOSAMINIDASA Português: DOENCA DE TAY-SACHS - GANGLIOSIDOSE G(M2) TIPO I - GANGLIOSIDOSE GM2 TIPO I - GM2 GANGLIOSIDOSE TIPO I - DOENCA DA DEFICIENCIA DA HEXOSAMINIDASE A HONselect ressources Definition: Yes Articles: Yes Images: Yes News: No Conferences: No Clinical trials: No Web sites: English Yes Français No Deutsch No Español No Português No Home About us Site map Feedback ... HONewsletter http://www.hon.ch/HONselect/RareDiseases/C10.228.140.163.474.475.600.300.850.html

27. Diseases And Conditions -- Discovery Health -- Tay-Sachs Disease taysachs disease By Ronald J. Jorgenson, DDS, PhD, FACMG. tay-sachs diseaseis a genetic disorder that causes an early breakdown of the nervous system. http://health.discovery.com/diseasesandcond/encyclopedia/3039.html

Tay-Sachs disease By Ronald J. Jorgenson, DDS, PhD, FACMG Tay-Sachs disease is a genetic disorder that causes an early breakdown of the nervous system. Most people born with this disease do not survive past their third birthday. What is going on in the body? Tay-Sachs disease is caused by an enzyme defect. An important enzyme, hexosaminidase A, is not completely formed. Because of this enzyme defect, the body cannot break down a protein that is normally found in cells of the body. When this happens, the protein accumulates in the nerve cells. Then, the nerve cells swell up and degenerate, causing a breakdown of the nervous system. What are the signs and symptoms of the disease? Children born with this disease have: an exaggerated reaction to loud noises poor muscle tone decrease of purposeful movements drooling seizures blindness Most children die when they are between the ages of 2 and 4 years. What are the causes and risks of the disease? A defective gene causes the enzyme defect that leads to Tay-Sachs disease. The gene is autosomal recessive in character. Autosomal means that the gene is on one of the 22 pairs of non-sex chromosomes. Recessive means that there must be two copies of the gene for the disease to exist. Tay-Sachs disease is most common among Jews of Eastern European origin, specifically Ashkenazi Jews. Among this group, the carrier frequency is 1 in 30. Among non-Jews the carrier frequency is 1 in 300.

28. © The Centre For Genetics Education Fact Sheet 20, Last Updated May 2002. taysachs disease. Producedby the Centre for Genetics Education. WHAT IS tay-sachs disease? http://www.genetics.com.au/Genetics2003/FactSheets/20.asp

GENETIC FACT SHEETS Fact Sheet 20 Last Updated: May 2002 TAY-SACHS DISEASE Produced by the Centre for Genetics Education. Fax: (02) 9906 7529 Email: genetics@med.usyd.edu.au Internet: www.genetics.com.au Adobe Acrobat PDF Printable Version (12 KB) WHAT IS TAY-SACHS DISEASE? This disorder 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. The affected children were found to have a cherry-red spot at the back of the eye by an ophthalmologist, Dr Warren Tay, and thus the condition became known as Tay-Sachs disease. The symptoms first appear at about the age of 6 months when an apparently happy healthy baby stops smiling, crawling or turning over, loses its ability to grasp or reach out, and gradually becomes blind, paralysed and unaware of his/her surroundings. Death usually occurs by the age of 3 or 4 years. WHAT CAUSES TAY-SACHS DISEASE?

29. Tay-Sachs Disease Receive HealthLink via email! Subscribe now . taysachs disease. Infants with Tay-Sachsdisease appear to develop normally for the first few months of life. http://healthlink.mcw.edu/article/921990328.html

Search Articles: search tips Please Take the HealthLink Survey Email this article Print this article Find related articles: By topic: Neurology By keywords: Receive Health Link via email! Subscribe now >> Tay-Sachs Disease 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. Infants with Tay-Sachs disease appear to develop normally for the first few months of life. Then, as nerve cells become distended with fatty material, a relentless deterioration of mental and physical abilities occurs. The child becomes blind, deaf, and unable to swallow. Muscles begin to atrophy and paralysis sets in. A much rarer form of the disorder which occurs in patients in their twenties and early thirties is characterized by unsteadiness of gait and progressive neurological deterioration. Patients with Tay-Sachs have a "cherry-red" spot in the back of their eyes. The condition is caused by insufficient activity of an enzyme called hexosaminidase A that catalyzes the biodegradation of acidic fatty materials known as gangliosides. Gangliosides are made and biodegraded rapidly in early life as the brain develops.

30. The DRM WebWatcher: Tay-Sachs Disease taysachs disease (TSD) is a fatal genetic disorder in children thatcauses 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 3/2000 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.

31. AYC: Tay-Sachs Disease taysachs disease Basic Information. tay-sachs disease (TSD) is a fatal diseasethat develops sometime during the third to sixth month of an infant's life. http://alwaysyourchoice.com/ayc/childrens/toddlers/taysachs.php

Children's Health Infants Toddlers Chickenpox ... Information Tay-Sachs Disease Basic Information such as pneumonia) that the body in its wasted state cannot fight off. Most persons with TSD do not live past the age of eight. At present, a cure does not exist for TSD. There are also no available treatments. The Genetics Behind Tsd Every human being has 23 pairs of chromosomes, each of which contains multiple pairs of genes. Researchers have determined that the 15th chromosome contains the pair of genes that is responsible for Hex-A. They have also identified on that chromosome several genetic mutations that can result in TSD. As aforementioned, it is a pair of genes that controls Hex-A. If at least one of these genes is functioning properly in a person, there is no chance that fatty acids will accumulate in the brain. This person does not have TSD. However, a person with a single defective gene is considered a carrier and can potentially pass the disorder to their offspring. There is a fifty percent chance that the carrier parent will pass down the defective gene to their offspring. A person can only acquire TSD when they receive a defective gene from each parent. This means that both parents have to be carriers. For such a couple, there is a 25 percent chance that they will each pass down a defective gene to their child. A child who receives two defective genes cannot produce a sufficient amount of Hex-A to eliminate fatty acid build-up in the brain, and is considered to have TSD. At the same time, there is a 50 percent change that two carrier parents will pass down a single defective gene, making the child a carrier.

32. Homocystinuria taysachs disease Amaurotic Familial Idiocy. Book, Home Page. http://www.fpnotebook.com/END87.htm

Home About Links Index ... Editor's Choice Paid Advertisement (click above). Please see the privacy statement Endocrinology Metabolism Assorted Pages Inborn Errors of Metabolism Disorders of Energy Metabolism Lysosomal storage disease Inborn Error of Small Molecule Metabolism ... Tay-Sachs Disease Homocystinuria Book Home Page Cardiovascular Medicine Dental Dermatology Emergency Medicine Endocrinology Gastroenterology General Medicine Geriatric Medicine Gynecology Hematology and Oncology HIV Infectious Disease Jokes Laboratory Neonatology Nephrology Neurology Obstetrics Ophthalmology Orthopedics Otolaryngology Pediatrics Pharmacology Prevention Psychiatry Pulmonology Radiology Rheumatology Sports Medicine Surgery Urology Chapter Endocrinology Index Adrenal Disease General Cardiovascular Medicine Diabetes Mellitus Examination Ophthalmology Geriatric Medicine Growth Hematology and Oncology Hypoglycemia Laboratory Metabolism Neonatology Obesity Obstetrics Parathyroid Disease Pediatrics Pharmacology Pituitary Disease Prevention Radiology Nephrology Sex Sports Medicine Surgery Symptom Evaluation Thyroid Disease Page Metabolism Index Background Class Energy Class Lysosomal Storage Class Small Molecules Fructose Intolerance Galactosemia Gauchers Disease Homocystinuria Tay-Sachs See Also Homocysteine Inborn Error of Small Molecule Metabolism Inborn Errors of Metabolism Pathophysiology Inherited enzyme deficiency Effects Intimal fibrosis and Fiber destruction Destroys arterial elastic fibers Destroys Zonular fibers of the lens Fatty Liver infiltration Gliosis and focal necrosis of the midbrain

33. Tay-Sachs Disease Symptoms Causes Diagnosis Treatments taysachs disease Guide picks. Information about the causes, symptoms,diagnosis, and treatment of tay-sachs disease. Find out why http://womenshealth.about.com/cs/taysachsdisease/

zfp=-1 About Women's Health Search in this topic on About on the Web in Products Web Hosting Women's Health with Tracee Cornforth Your Guide to one of hundreds of sites Home Articles Forums ... Help zmhp('style="color:#fff"') Subjects ESSENTIALS Women's Health Bookstore Symptoms 101 Treatments A to Z ... All articles on this topic Stay up-to-date! Subscribe to our newsletter. Advertising Free Credit Report Free Psychics Advertisement Tay-Sachs Disease Guide picks Information about the causes, symptoms, diagnosis, and treatment of Tay-Sachs disease. Find out why people of Jewish decent are most at risk of having children with Tay-Sachs. Genetic Disease Email Discussion List Email list whose members discuss a number of genetic diseases including Tay-Sachs. Tay Sachs Disease Complex and comprehensive material that covers forms of this disease with extensive medical references. (National Center for Biotechnology Information) Tay-Sachs Disease: Testing a Population at Risk Lisa A. Lombard explains the biochemistry of this disease, when screening procedures should be implemented, and the role of rabbis in counseling people about his disease. Email this page!

34. Dynagene Information For Patients - Tay Sachs Disease Patient Education Tay Sachs, print. tay-sachs disease. An infant with Tay-Sachsdisease usually develops in a normal manner for the first few months of life. http://www.dynagene.com/education/tay.html

Client Services Testing Services Genetic Counseling For Patients ... News Room Houston 7400 Fannin Suite 1200 Houston, TX 77054 Tel: 713 798 9500 Fax: 713 798 9595 Toll Free: 800 543 1346 Seattle 819 Boylston Ave. 2nd Floor Seattle, WA 98104 Tel: 206 386 6166 Fax: 206 386 2631 Toll Free: 800 458 6836 Patient Education Tay Sachs print Tay-Sachs Disease Characteristics Inheritance What is the cause of Tay-Sachs disease? Recommendations ... Where can I learn more about Tay-Sachs disease? Tay-Sachs disease is an inherited genetic disorder which is most prevalent among descendants of the Ashkenazi Jewish population from Central and Eastern Europe. Approximately 1 out of every 30 Jewish Americans is a carrier of the Tay-Sachs gene. More recently, an increased incidence has been noted in people of French-Canadian and Cajun ancestry, but in all other populations, the frequency of Tay-Sachs has significantly decreased. Characteristics An infant with Tay-Sachs disease usually develops in a normal manner for the first few months of life. However, at about six months of age, the baby begins to lose its ability to do things such as roll over, crawl, or reach out for something. He or she many even lose the ability to smile. Over time, the baby will become completely unaware of his/her surroundings. Mental retardation always occurs, and progressive physical deterioration causes the baby to become blind and paralyzed. The average life expectancy for a person with Tay-Sachs disease is 2-5 years of age.

35. Print Version - Tay Sachs Disease taysachs disease. Characteristics Inheritance What is the cause of Tay-Sachsdisease? Recommendations Where can I learn more about tay-sachs disease? http://www.dynagene.com/print/tay.html

Tay-Sachs Disease Characteristics Inheritance What is the cause of Tay-Sachs disease? Recommendations Where can I learn more about Tay-Sachs disease? Tay-Sachs disease is an inherited genetic disorder which is most prevalent among descendants of the Ashkenazi Jewish population from Central and Eastern Europe. Approximately 1 out of every 30 Jewish Americans is a carrier of the Tay-Sachs gene. More recently, an increased incidence has been noted in people of French-Canadian and Cajun ancestry, but in all other populations, the frequency of Tay-Sachs has significantly decreased. Characteristics An infant with Tay-Sachs disease usually develops in a normal manner for the first few months of life. However, at about six months of age, the baby begins to lose its ability to do things such as roll over, crawl, or reach out for something. He or she many even lose the ability to smile. Over time, the baby will become completely unaware of his/her surroundings. Mental retardation always occurs, and progressive physical deterioration causes the baby to become blind and paralyzed. The average life expectancy for a person with Tay-Sachs disease is 2-5 years of age. Inheritance Tay-Sachs disease has an autosomal (non-sex related) recessive pattern of inheritance, meaning that both parents must be carriers in order to have an affected child. If both parents are carriers of the Tay-Sachs gene, their child has a 25% chance of having the disease, a 50% chance of being an asymptomatic carrier, and a 25% chance of being disease-free and not carrying the gene. If only one parent is a Tay-Sachs carrier, there is no chance of having an affected child, and a 50% chance the child will be a carrier.

36. Tay Sachs Disease - Family Medicine Genetics Mount Sinai Hospital, Toronto At least 1 in 30 Jews of central and eastern European descent carry the TS gene,meaning that 1 in 900 Jewish couples could have a baby with taysachs disease. http://www.mtsinai.on.ca/familymedicine/genetics/Disorders/taysachs.htm

Genetic Disorder Clinics Alzheimer's Disease Breast Cancer Colorectal ... Ovarian Cancer Tay Sachs Disease Tay Sach's Disease Babies with Tay-Sachs appear normal until the age of about six months, at which point they begin to deteriorate rapidly. Typical features include developmental arrest and decline, hyperacussis, macular cherry red spots, blindness, and eventually seizures and failure to thrive. There is no treatment for Tay-Sachs except for temporary supportive care. Ultimately, almost all of these children die by the age of four. Summary / Overview Etiology Prevalence Genetics Genetic Counselling ... References Summary / Overview Tay-Sachs is a severe and ultimately fatal, autosomal recessive, neurodegenerative disease. It is by far most prevalent among Ashkenazi Jews (i.e. Jews of Eastern European descent). Widespread screening is available and has been effective in dramatically reducing the incidence of this disease. ^top Etiology The origin of Tay-Sachs appears to be purely genetic. Any infant with two recessive TS genes will get the disease, and anyone with only one TS gene will be an asymptomatic carrier.

37. Tay-Sachs Disease MAIN SEARCH INDEX taysachs disease. In tay-sachs disease, the enzymenecessary for removing excess gangliosides is missing. This http://www.hendrickhealth.org/healthy/001327.htm

MAIN SEARCH INDEX Tay-Sachs disease Definition Description Causes and symptoms Diagnosis ... Resources Definition 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. This results in disability and death Description Gangliosides are fatty substances necessary for the proper development of the brain and nerve cells (nervous system). Under normal conditions, gangliosides are continuously broken down, so that an appropriate balance is maintained. In Tay-Sachs disease, the enzyme necessary for removing excess gangliosides is missing. This allows gangliosides to accumulate throughout the brain, and is responsible for the disability associated with the disease. Tay-Sachs disease is particularly common among Jewish people of Eastern European and Russian (Ashkenazi) origin. About one out of every 3,600 babies born to Ashkenazi Jewish couples will have the disease. Tay-Sachs is also more common among certain French-Canadian and Cajun French families. Causes and symptoms Tay-Sachs is caused by a defective gene. Genes are located on chromosomes, and serve to direct specific development/processes within the body. The genetic defect in Tay-Sachs disease results in the lack of an enzyme called hexosaminidase A. Without this enzyme, gangliosides cannot be degraded. They build up within the brain, interfering with nerve functioning. Because Tay-Sachs is a recessive disorder, only people who receive two defective genes (one from the mother and one from the father) will actually have the disease. People who have only one defective gene and one normal gene are called carriers. They carry the defective gene and thus the possibility of passing the gene and/or the disease onto their offspring.

38. Tay-Sachs Disease taysachs disease. Definition. Tay-Sachs maintained. In tay-sachs disease,the enzyme necessary for removing excess gangliosides is missing. This http://www.healthatoz.com/healthatoz/Atoz/ency/tay-sachs_disease.html

Encyclopedia Index T Home Encyclopedia Encyclopedia Index T Tay-Sachs disease Definition 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. This results in disability and death Description Gangliosides are fatty substances necessary for the proper development of the brain and nerve cells (nervous system). Under normal conditions, gangliosides are continuously broken down, so that an appropriate balance is maintained. In Tay-Sachs disease, the enzyme necessary for removing excess gangliosides is missing. This allows gangliosides to accumulate throughout the brain, and is responsible for the disability associated with the disease. Tay-Sachs disease is particularly common among Jewish people of Eastern European and Russian (Ashkenazi) origin. About one out of every 3,600 babies born to Ashkenazi Jewish couples will have the disease. Tay-Sachs is also more common among certain French-Canadian and Cajun French families. Causes and symptoms Tay-Sachs is caused by a defective gene. Genes are located on chromosomes, and serve to direct specific development/processes within the body. The genetic defect in Tay-Sachs disease results in the lack of an enzyme called hexosaminidase A. Without this enzyme, gangliosides cannot be degraded. They build up within the brain, interfering with nerve functioning. Because Tay-Sachs is a recessive disorder, only people who receive two defective genes (one from the mother and one from the father) will actually have the disease. People who have only one defective gene and one normal gene are called carriers. They carry the defective gene and thus the possibility of passing the gene and/or the disease onto their offspring.

39. Tay-Sachs Disease (www.whonamedit.com) taysachs disease tay-sachs disease occurs predominantly, but not exclusively,in Jewish children of eastern and central European (Ashkenazi) families. http://www.whonamedit.com/synd.cfm/455.html

Home List categories Eponyms A-Z Biographies by country ... Contact Tay-Sachs disease Also known as: Adson's syndrome Sachs’ disease Tay-Sachs syndrome Synonyms: Amaurotic familial idiocy, amaurotic familial infantile idiocy, cerebromacular degeneration, ganglioside lipidosis, gangliosidosis Gm2 type 1; Gm2 gangliosidosis, infantile amaurotic idiocy, infantile cerebral ganglioside, infantile ganglioside lipidosis, infantile lipoidosis GM-2 gangliosidosis (type S); sphingolipidosis, Tay-Sachs. Associated persons: Alfred Washington Adson Bernard (Barney) Sachs Warren Tay Description: 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. The affected child appears to develop normally for the first few months of life. Then, as nerve cells become distended with fatty material, a relentless deterioration of mental and physical abilities occurs. Early symptoms become apparent within the first 3 to 6 months of life, with muscle weakness, blindness, psychomotor retardation, feeding difficulty, and general paralysis. At about 18 months there are convulsions, progressive deafness, blindness, seizures, spasticity, and, ultimately, decerebrate rigidity. Anomalies of the face and head include doll-like facies, macrocephaly, translucent skin, long eyelashes, fine hair, and pale-pink coloration. Cherry red spots of the maculae are present in some cases. An almost total absence of the enzyme hexosaminidase (while hexosaminidase B activity is increased in the brain) is the most prominent biochemical feature of this syndrome.

40. Tay-Sachs taysachs disease. back.gif (3020 bytes). http://www.lowvision.org/taysachs.htm

Tay-Sachs Disease

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