41. 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 Yes Deutsch No Español Yes 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

42. Center For Jewish Genetic Diseases - Department Of Human Genetics - Mount Sinai MSSM Home, Diseases taysachs disease. ay-Sachs disease infections. tay-sachs disease is an inherited metabolic disorder. The basic http://www.mssm.edu/jewish_genetics/diseases/tay-sachs.shtml

Diseases: Tay-Sachs Disease ay-Sachs disease is the most well known Jewish genetic disease, potentially affecting one in every 2,500 Ashkenazi Jewish newborns. Two forms of this disease occur in Ashkenazi Jews, the well known infantile-onset form and a lesser known, late-onset or adult form designated "chronic GM2-gangliosidosis". Infantile Tay-Sachs Disease This disease is characterized by the onset of severe mental and developmental retardation during the first four to eight months of life. An early sign of the disease is the cherry-red spot, an unusual abnormality in the retina of the eye observed only by use of an ophthalmoscope. The involvement of the central nervous system progresses rapidly and affected children become totally debilitated by two to five years of life. Affected children also develop seizures which are not controllable with anti-epileptic drugs. Death usually occurs by three to five years of life due to pneumonia or other infections. Tay-Sachs disease is an inherited metabolic disorder. The basic defect in affected children is the deficiency of an enzyme , Beta-hexosaminidase A. This enzyme normally breaks down a naturally occurring fatty substance called GM2-ganglioside. The enzyme deficiency leads to a toxic accumulation of GM2-ganglioside in the cells of the nervous system. The gene for hexosaminidase A has been isolated on

43. Tay taysachs disease. cns108.jpg (149686 bytes). These enlarged, pale neurons are in a baby with tay-sachs disease. cns109.jpg (123007 bytes). http://medgen.genetics.utah.edu/photographs/pages/tay.htm

Tay-Sachs disease These enlarged, pale neurons are in a baby with Tay-Sachs disease. The Luxol fast blue stain highlights the large swollen neurons in Tay-Sachs disease. Examinations Photographs Movies Links ... noJava Home

44. Tay-Sachs Disease Is An Inherited Disorder. taysachs disease is an inherited disorder. In children with tay-sachs disease, a faulty gene stops the body from producing the enzyme HexA. http://www.betterhealth.vic.gov.au/bhcv2/bhcarticles.nsf/pages/Tay_Sachs_disease

45. Tay-Sachs Disease - Medical Dictionary Definitions Of Popular Medical Terms MedicineNet Home MedTerms medical dictionary AZ List taysachs disease. Advanced Search. http://www.medterms.com/script/main/art.asp?articlekey=6308

46. Tay-Sachs Disease Symptoms Causes Diagnosis Treatments Search. Women s Health, taysachs disease Guide picks. Information about the causes, symptoms, diagnosis, and treatment of tay-sachs disease. http://womenshealth.about.com/cs/taysachsdisease/

zJs=10 zJs=11 zJs=12 zJs=13 zc(5,'jsc',zJs,9999999,'') About Women's Health Non-GYN Health Issues Tay Sachs Disease Home Essentials What Do My Symptoms Mean? Medical Treatments and Alternatives ... Books for Women zau(256,152,145,'gob','http://z.about.com/5/ad/go.htm?gs='+gs,''); Birth Control Cancer Cardiovascular Diseases Menopause ... Help zau(256,138,125,'el','http://z.about.com/0/ip/417/0.htm','');w(xb+xb); Stay Current Subscribe to the About Women's Health newsletter. zau(256,152,100,'hs','http://z.about.com/5/ad/hs.htm?zIhsid=00',''); Search Women's Health Tay-Sachs Disease 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. Alphabetical Recent Up a category Tay-Sachs Disease Basic and easy to understand facts about Tay Sachs Disease from Dr. Greene.com Tay-Sachs Disease The March of Dimes provides excellent material relevant to the causes, risks, diagnosis, treatment, and prevention of Tay Sachs Disease. Topic Index email to a friend back to top Our Story ... User Agreement

47. Tay-Sachs Disease Symptoms Causes Diagnosis Treatments Search. Women s Health, taysachs disease. Information about the causes, symptoms, diagnosis, and treatment of tay-sachs disease. Find http://womenshealth.about.com/od/taysachsdisease/

zJs=10 zJs=11 zJs=12 zJs=13 zc(5,'jsc',zJs,9999999,'') About Women's Health Non-GYN Health Issues Tay Sachs Disease Home Essentials What Do My Symptoms Mean? Medical Treatments and Alternatives ... Books for Women zau(256,152,145,'gob','http://z.about.com/5/ad/go.htm?gs='+gs,''); Birth Control Cancer Cardiovascular Diseases Menopause ... Help zau(256,138,125,'el','http://z.about.com/0/ip/417/0.htm','');w(xb+xb); Stay Current Subscribe to the About Women's Health newsletter. zau(256,152,100,'hs','http://z.about.com/5/ad/hs.htm?zIhsid=00',''); Search Women's Health Tay-Sachs Disease 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. Alphabetical Recent Up a category Tay-Sachs Disease Basic and easy to understand facts about Tay Sachs Disease from Dr. Greene.com Tay-Sachs Disease The March of Dimes provides excellent material relevant to the causes, risks, diagnosis, treatment, and prevention of Tay Sachs Disease. Topic Index email to a friend back to top Our Story ... User Agreement

48. Tay-Sachs Disease encyclopediaEncyclopedia taysachs disease, tA -saks Pronunciation Key. tay-sachs disease , rare hereditary disease caused by a http://www.factmonster.com/ce6/sci/A0848010.html

Encyclopedia Tay-Sachs disease [t A 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. There is no treatment for Tay-Sachs. Sections in this article: Introduction Course of the Disease Genetic Basis and Screening Bibliography The Columbia Electronic Encyclopedia, Tay Ninh Tb, chemical symbol Print this page Cite this page AD AD AD ADS Link to Fact Monster Add Fact Monster search to your site ... Privacy Brought to you by:

49. Center For Jewish Genetic Disorders | Tay-Sachs Disease taysachs disease. tay-sachs disease is the most familiar of the Jewish genetic disorders. Babies with tay-sachs disease are normal at birth. 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.

50. Health Library - taysachs disease. Topic Overview. Tay-Sachs and death. There is no cure for Tay-Sachs. There are three types of tay-sachs disease. http://yalenewhavenhealth.org/library/healthguide/IllnessConditions/topic.asp?hw

51. Health Library - Tay-Sachs Disease Medical Tests Information on medical tests, including how to prepare, what to expect, and what the results mean. taysachs disease. http://yalenewhavenhealth.org/Library/HealthGuide/MedicalTests/topic.asp?hwid=st

52. 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 Whonamedit.com does not give medical advice. This survey of medical eponyms and the persons behind them is meant as a general interest site only. No information found here must under any circumstances be used for medical purposes, diagnostically, therapeutically or otherwise. If you, or anybody close to you, is affected, or believe to be affected, by any condition mentioned here: see a doctor. 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.

53. Tay-Sachs Disease - DrGreene.com - Caring For The Next Generation taysachs disease. Related concepts Gangliosidosis, TSD Introduction The story of tay-sachs disease is one of heartbreaking poignancy. http://www.drgreene.com/21_1202.html

QUICK SEARCH A - Z Guide Allergies Allergy Care Guide Asthma Care Guide Bedwetting Breastfeeding Childhood Obesity Diabetes Care Guide Ear Infections Genetics Immunizations Infectious Diseases Parenting Potty Training Rashes Safety Sleep About DrGreene.com Archives About Us Context Reviews Awards Readers Comments Press Room Partners and Supporters Topic Centers Contact Us Pediatric Information A-Z Guide Allergy Care Guide Asthma Care Guide Diabetes Care Guide Discussion Boards DrGreene´s Chats DrGreene´s Event Schedule FAQ Fast Facts Feature Articles Guidelines Pediatric Updates Special Feature Top Tips Community Activty Guide Advanced Search Community Central Chat Chat Schedule Cute Faces Discussion Boards Family Friendly Recipes Parent-to-Parent Resources The DrGreene Team Newsletter Prenatal Newborn Infants Toddlers Pre-Schoolers School Age Teens / Adolescents Multimedia Library Fertility Children's Health Tay-Sachs Disease Related concepts: Gangliosidosis, TSD Introduction: The story of Tay-Sachs disease is one of heartbreaking poignancy. The magical experience of a wonderful, normal baby gives way to a desperate, heroic challenge of love and loss as developmental milestones begin to slip away. The normal human lifespan, from

54. Tay-Sachs Disease -- Topic Overview taysachs disease Topic Overview Tay-Sachs and death. There is no cure for Tay-Sachs. There are three types of tay-sachs disease. http://my.webmd.com/hw/raising_a_family/hw182977.asp

var guid_source = ""; var guid_source_id = ""; //unused var encodedurl = ""; WebMD Today Home WebMD News Center Member Services WebMD University My WebMD Find a Physician Medical Info Check Symptoms Medical Library Quizzes, Calculators Clinical Trials ... Women, Men, Lifestyle Who We Are About WebMD Site Map Health Topics Symptoms ... Credits Tay-Sachs Disease Topic Overview Tay-Sachs disease is a rare genetic disorder that causes fatty substances to build up in the cells, especially in the brain and nerve cells (neurons). It results in mental retardation and lack of normal physical development, followed by convulsions, blindness, paralysis, and death. There is no cure for Tay-Sachs. There are three types of Tay-Sachs disease . This topic will focus on the most common type: acute infantile Tay-Sachs. Someone with Tay-Sachs disease is either lacking or has lower-than-normal amounts of the enzyme hexosaminidase A (hex A). Hex A is necessary to break down normal fatty compounds called gangliosides in the body cells. These fatty compounds gradually accumulate and damage brain and nerve cells, making the cells unable to function properly. Tay-Sachs is an autosomal recessive disease. This means that to have the disease, a person must inherit a

55. Tay-Sachs Disease taysachs disease Late Onset Tay-Sachs Foundation National network. Founded 1994. Support and education for persons dealing with late onset Tay-Sachs. http://my.webmd.com/hw/raising_a_family/shc29tay.asp

var guid_source = ""; var guid_source_id = ""; //unused var encodedurl = ""; WebMD Today Home WebMD News Center Member Services WebMD University My WebMD Find a Physician Medical Info Check Symptoms Medical Library Quizzes, Calculators Clinical Trials ... Women, Men, Lifestyle Who We Are About WebMD Site Map Health Topics Symptoms ... National Tay-Sachs and Allied Diseases Association Tay-Sachs Disease Late Onset Tay-Sachs Foundation National network. Founded 1994. Support and education for persons dealing with late onset Tay-Sachs. Aims to educate medical and community at large. Advocacy, newsletter, information and referrals, phone support, conferences, fundraising for research, and literature. WRITE: Late Onset Tay-Sachs Foundation P.O. Box 5 Flourtown, PA 19031-0005 CALL: 1-800-672-2022 (day) FAX: 215-836-5438 E-MAIL: lostf@verizon.net WEBSITE: http://www.lotsf.org VERIFIED: 9/10/2003 National Tay-Sachs and Allied Diseases Association National. 4 affiliated groups. Founded 1957. (Bilingual) Dedicated to the treatment and prevention of Tay-Sachs, Canavan, and related genetic diseases. Provides information and support services to individuals and families affected by these disorders as well as the public at large. The strategies for achieving these goals include public and professional education, research, genetic screening, family services (i.e. Parent Peer Group and Grandparent Group), and advocacy. WRITE: National Tay-Sachs and Allied Diseases Association 2001 Beacon St., Suite 204

56. Tay-Sachs Disease taysachs disease, http://ww3.komotv.com/global/story.asp?s=1230566

57. Tay-Sachs Disease taysachs disease. What is tay-sachs disease? Infants with tay-sachs disease appear to develop normally for the first few months of life. http://www.clevelandclinic.org/health/health-info/docs/1300/1354.asp?index=6124&

58. Tay-Sachs Disease Receive HealthLink via email! Subscribe now . taysachs disease. Infants with tay-sachs disease 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.

59. HealthCentral - General Encyclopedia - Tay-Sachs Disease General Health Encyclopedia, taysachs disease. tay-sachs disease is inherited as a recessive gene. Symptoms begin to appear at 3 to 6 months old. http://www.healthcentral.com/mhc/top/001417.cfm

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60. 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/FamMedGen/Disorders/taysachs.htm

Physician Referrals Media MSH Staff Patients ... Auxiliary Quick Links About MSH Contact MSH Events Calendar Fast Facts How to Find MSH MSH in the News Publications Visiting Hours Disorders Genetic Clinics Glossary Links ... Disorders Family Medicine Genetics Program 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 ... 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).

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