41. Tay-Sachs Disease taysachs disease Presentation is usually at six months of age when affected infants,who previously have appeared normal and passed their early milestones http://www.sas-centre.org/genetic/genpages/lysstodistaysachsdisease.html

Tay-Sachs Disease Presentation is usually at six months of age when affected infants, who previously have appeared normal and passed their early milestones, become lethargic, floppy and poor feeders. They show an abnormal accentuated startle response to sudden noises. There is usually a macular cherry-red spot. Motor development becomes progressively retarded and as the disease progresses blindness, spasticity and decerebrate rigidity occur. Feeding becomes increasingly difficult and death usually occurs by 3 years following pulmonary infection. Later onset forms of the disease with juvenile or adult presentation and sub-acute or chronic courses also occur. In these there may be survival into adolescence, or longer survival with normal intelligence but slowly progressive spinocerebellar degeneration. Enzyme Test: b -Hexosaminidase A is measured for diagnosis of this disease. Back to Lysosomal Storage Disorders Index

42. Glossary Definition: Tay-Sachs Disease taysachs disease. tay-sachs disease results in the deterioration ofthe nervous system, usually resulting in death before the patient http://www.pbs.org/faithandreason/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. Glossary Index To return to the previous topic, click on your browser's 'Back' button, or select from the topics list.

43. Tay-Sachs Disease taysachs disease. Subject tay-sachs disease Title Tay-Sachs Author(s)Journal Book Vol Date 83/09 Page(s) Organization March http://med-aapos.bu.edu/PediRef/tay-sachs.html

Tay-Sachs Disease Subject: Tay-Sachs Disease Title: Tay-Sachs Author(s): Journal: Book: Vol: Date: 83/09 Page(s): Organization: March of Dimes Birth Defects Foundation; Genetic Counseling Svcs. Address: 1275 Mamroneck Avenue City: White Plains State: NY Zip: 10605 Phone: (914) 428-71 00 or your local March of Dimes office Type: Fact Sheet Subject: Tay-Sachs Disease Title: Tay-Sachs Disease Author(s): Journal: Book: Vol.: Date: 1992 Pages: Organization: National Organization for Rare Disorders, Inc. Address: P.O. Box 8923;,IOO Route 37 City: New Fairfield State: CT Zip: 06812-1783 Phone:(203) 746-6518 Type: Fact Sheet You can send E-Mail to the AAPOS Web Server directly from here. Please send comments and suggestions. You may also attach electronic files to e-mail. Please send us feedback Last Modified by Rick Blocker on 3/10/95 Press This To Return Pedi Resource Home Page

44. Short Description Of Cell Lines. Pathology: Tay-Sachs Disease *272800 Version 4.200205, Short description of cell lines. Pathology TaySachsdisease *272800 OMIM record. - By selecting the cell line http://www.biotech.ist.unige.it/cldb/pat138.html

Version Short description of cell lines. Pathology: Tay-Sachs disease OMIM record By selecting the cell line name , you will receive the detailed description of the cell line By selecting one of the terms between parentheses, you will receive the list of all relevant cell lines You can search any term of the list by using the 'Find' utility of your browser human, Caucasian amnion GEIMM human, Caucasian ... By Beatrice...

45. InteliHealth: Tay-Sachs Disease Health A to Z, Reviewed by the Faculty of Harvard Medical School taysachs disease Tay-Sachsdisease is an inherited disease caused by an abnormal gene. http://www.intelihealth.com/IH/ihtIH/WSIHW000/9339/10834.html

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46. 1Up Health > Tay-Sachs Disease > Causes, Incidence, And Risk Factors Of Tay-Sach 1Up Health Diseases Conditions taysachs disease Causes, Incidence, and RiskFactors. tay-sachs disease Causes, Incidence, and Risk Factors. Definition http://www.1uphealth.com/health/tay_sachs_disease_info.html

1Up Health Tay-Sachs disease Alternative Medicine Clinical Trials ... Health Topics A-Z Search 1Up Health Tay-Sachs disease Information Tay-Sachs disease Causes, Incidence, and Risk Factors 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.

47. Center For Jewish Genetic Diseases - Mount Sinai School Of Medicine MSSM Home, Diseases taysachs disease. ay-Sachs disease infections.tay-sachs disease is an inherited metabolic disorder. The basic http://www.nfjgd.org/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

48. NINDS Tay-Sachs Disease Information Page More about NINDS taysachs disease Information Page. Content for thispage. NINDS tay-sachs disease Information Page. Reviewed 12-05-2001. http://accessible.ninds.nih.gov/health_and_medical/disorders/taysachs_doc.htm

Disorders - National Institute of Neurological Disorders and Stroke (NINDS) Skip menus Main sections of the NINDS web site Home About NINDS Disorders-you are in this section ... Find People Disorders section pages and search Image Description Science For the Brain The nation's leading supporter of biomedical research on disorders of the brain and nervous system. Select Topic Disorder Quick Links Alzheimer's Autism Cerebral Palsy Chronic Pain Epilepsy Headache Multiple Sclerosis Parkinson's Stroke Traumatic Brain Injury More about NINDS Tay-Sachs Disease Information Page Studies with patients Research literature Press release NINDS Search (search help) Contact us My privacy NINDS is part of the National Institutes of Health Contact us Content for this page NINDS Tay-Sachs Disease Information Page Reviewed 12-05-2001 Get Web page suited for printing Email this to a friend or colleague Table of Contents (click to jump to sections) What is Tay-Sachs Disease? Is there any treatment? What is the prognosis? What research is being done? ... Additional resources from MEDLINEplus What is Tay-Sachs Disease? Is there any treatment?

49. Tay-Sachs Disease taysachs disease. Definition tay-sachs disease is a genetic disorder. A missingenzyme results in the accumulation of a fatty substance in the nervous system. http://www.chclibrary.org/micromed/00067340.html

Main Search Index Definition Description Causes ... Resources Tay-Sachs disease Definition Tay-Sachs disease is a genetic disorder. A missing enzyme results in the accumulation of a fatty substance in the nervous system. This results in disability and death Description Gangliosides are a fatty substance 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. Tay-Sachs is a genetic disease, caused by a defective gene. Genes are located on chromosomes, and serve to direct specific development/processes within the body. Because it 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 on to their offspring.

50. SupportPath.com: Tay-Sachs Disease SupportPath.com, taysachs disease. Professional Organizations of Interest None Listed. Clinical Trials Research on tay-sachs disease http://www.supportpath.com/sl_t/tay_sachs_disease.htm

Tay-Sachs Disease A fatal inherited disorder in which an excess of a fatty substance accumulates in the brain's nerve cells leading to severe mental and physical deterioration. Most children with Tay-Sachs Disease die before age 5. Other topics of interest on SupportPath.com: Bereavement Rare Disorders About Us Add-A-Link ... here Online Communities / Message Boards... None Listed Online Chats... Note: Regularly scheduled chats are listed on our NEW Online Events Calendar Links in this section are primarily to chat rooms open 24/7 which may or may not be moderated. None Listed Usenet Groups... Note: Your browser must be properly configured to access Usenet groups from this site. None Listed Mailing Lists... None Listed National / International Organizations... UNITED STATES Late-Onset Tay-Sachs Foundation (LOTSF) Website: http://www.lotsf.org/ Description: As of 05/31/2002, the website is being updated. Date Added: 05/31/2002 UNITED STATES The National Foundation for Jewish Genetic Diseases, Inc. (NFJGD) Website: http://www.nfjgd.org/ Description: The NFJGD "is devoted to supporting research and informing both the public and the medical community about these, the nine most common Ashkenazi Jewish genetic diseases." View their

51. Helpful Information About Tay Sachs taysachs disease What is Tay-Sachs? Infants with tay-sachs diseaseappear to develop normally for the first few months of life. http://www.lavacacounty.com/shawn/helpfulinfo.htm

We found some very helpful links and information about this disease from Michaiah Rain Reed's Web Page ericreed@cruzio.com Michaiah also suffered from this disease and has since passed away. Please visit his site also. What is Tay-Sachs? Tay-Sachs Disease Information Sheet Alliance of Genetic Support Groups Rare Genetic Diseases in Children: Resource Directory ... Medscape - Journal Articles, Medical News, MEDLINE TAY-SACHS DISEASE What is 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. 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 that 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

52. Tay-Sachs Disease Genetic Diseases. taysachs disease. tay-sachs disease is the centralnervous system. tay-sachs disease What is tay-sachs disease? http://jhhs.client.web-health.com/web-health/topics/GeneralHealth/generalhealths

53. Tay-Sachs Disease. The Columbia Encyclopedia, Sixth Edition. 2001 taysachs disease. tay-sachs disease occurs primarily among Jews of Eastern Europeandescent but is also found in French Canadians whose roots are in the St. http://www.bartleby.com/65/ta/Tay-Sach.html

Select Search All Bartleby.com All Reference Columbia Encyclopedia World History Encyclopedia World Factbook Columbia Gazetteer American Heritage Coll. Dictionary Roget's Thesauri Roget's II: Thesaurus Roget's Int'l Thesaurus Quotations Bartlett's Quotations Columbia Quotations Simpson's Quotations English Usage Modern Usage American English Fowler's King's English Strunk's Style Mencken's Language Cambridge History The King James Bible Oxford Shakespeare Gray's Anatomy Farmer's Cookbook Post's Etiquette Bulfinch's Mythology Frazer's Golden Bough All Verse Anthologies Dickinson, E. Eliot, T.S. Frost, R. Hopkins, G.M. Keats, J. Lawrence, D.H. Masters, E.L. Sandburg, C. Sassoon, S. Whitman, W. Wordsworth, W. Yeats, W.B. All Nonfiction Harvard Classics American Essays Einstein's Relativity Grant, U.S. Roosevelt, T. Wells's History Presidential Inaugurals All Fiction Shelf of Fiction Ghost Stories Short Stories Shaw, G.B. Stein, G. Stevenson, R.L. Wells, H.G. Reference Columbia Encyclopedia PREVIOUS NEXT ... BIBLIOGRAPHIC RECORD The Columbia Encyclopedia, Sixth Edition. Tay-Sachs disease (t KEY ) , rare hereditary disease caused by a genetic mutation that leaves the body unable to produce an

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

55. NHS Direct Online Encyclopedia Tay-Sachs Disease taysachs disease. Introduction. tay-sachs disease is a recessive geneticdisorder (see 'Causes') that is common amongst Ashkenazi Jews. http://www.nhsdirect.nhs.uk/nhsdoheso/display.asp?sTopic=TaySachs

56. NHS Direct Online Encyclopedia Tay-Sachs Disease taysachs disease. Introduction. tay-sachs disease is a recessive geneticdisorder (see causes) that is common amongst Ashkenazi Jews. http://www.nhsdirect.nhs.uk/nhsdoheso/print.asp?sTopic=TaySachs

57. Alfigen/The Genetics Institute | Patient Information | Tay-Sachs Disease taysachs disease. What Is tay-sachs disease? Tay seizures. Death usuallyoccurs by the age of five. What Causes tay-sachs disease? http://www.alfigen.com/patient-taysachs.htm

Tay-Sachs Disease What Is Tay-Sachs Disease? Tay-Sachs disease is a fatal genetic disorder that occurs more frequently in the Ashkenazi (Eastern European) Jewish population. Approximately 1 in 27 Ashkenazi Jewish individuals are carriers of this disease. A baby with Tay-Sachs disease appears normal at birth, but after six months of age, the child progressively develops mental retardation followed by paralysis, blindness, and seizures. Death usually occurs by the age of five. What Causes Tay-Sachs Disease? Tay-Sachs disease is caused by a deficiency of an enzyme called Hex-A. As a result of this deficiency, there is an accumulation of certain substances which damage the nervous system. Tay-Sachs is an autosomal recessive disorder, which means for an individual to be affected with the disease, he/she must inherit one copy of the abnormal (mutated) Tay-Sachs gene from each parent. Individuals with one copy of the abnormal gene and one copy of the normal gene are known as carriers. Carriers usually do not have any symptoms of the disorder. How Can Tay-Sachs Be Detected?

58. Tay-Sachs Disease, DNA Analysis (510404) taysachs disease, DNA Analysis (510404). Screening for carriers of tay-sachs diseaseamong Ashkenazi Jews A comparison of DNA-based and enzyme-based tests. http://www.labcorp.com/datasets/labcorp/html/chapter/mono/mg002800.htm

Tay-Sachs Disease, DNA Analysis (510404) CPT Related Information Genetics Appendix Synonyms Hexosaminidase A Deficiency Special Instructions A completed Tay-Sachs Disease Screening Questionnaire must accompany specimens. Call 800-345-4363 to request forms, or photocopy the form from the Genetics Appendix Specimen Whole blood, amniotic fluid, or chorionic villus sample (Submission of maternal blood is required for fetal testing.) Volume 7 mL whole blood or 10 mL amniotic fluid Minimum Volume 3 mL blood, 5 mL amniotic fluid Container Lavender-stopper (EDTA) tube; for fetal testing: sterile plastic conical tube or two confluent T25 flasks Storage Instructions Maintain specimen at room temperature. Causes for Rejection Frozen or hemolyzed specimen; quantity not sufficient for analysis Use Pre- and postnatal determination of Tay-Sachs disease carrier status; resolution of pseudodeficiency allele status Limitations Greater than 95% of the mutant alleles in persons with Ashkenazi Jewish heritage are detected. In persons with non-Ashkenazi heritage, approximately 52% of the mutant alleles are detected. Methodology Polymerase chain reaction (PCR) and allele-specific oligonucleotide (ASO) and restriction enzyme analyses Reference Triggs-Raine BL, Feigenbaum AS, Natowicz M, et al. Screening for carriers of Tay-Sachs disease among Ashkenazi Jews: A comparison of DNA-based and enzyme-based tests.

59. Florida State University College Of Medicine Digital Library taysachs disease Patient/Family Resources. Miscellaneous. tay-sachs diseaseAccess document. Miscellaneous tay-sachs disease Patient/Family Resources http://fsumed-dl.slis.ua.edu/patientinfo/metabolism/inborn/lysosomalstorage/sphi

Patient/Family Resources by Topic: Metabolic Disorders Tay-Sachs Disease Patient/Family Resources Spanish Miscellaneous See also: Mental Retardation Patient/Family Resources Genetic Testing Patient/Family Resources General Genetic Disorders Patient/Family Resources General Metabolic Disorders Patient/Family Resources ... Tay-Sachs Disease Clinical Resources National Tay-Sachs and Allied Diseases Association: Homepage Profiles of Allied Diseases: List of documents Tay-Sachs Disease: Access document Late-Onset Tay-Sachs Disease: Access document March of Dimes: Homepage Facts Sheets: List of documents Tay-Sachs Disease: Access document National Institute of Neurological Disorders and Stroke: Homepage Disorders Information: List of documents Tay-Sachs Disease: Access document MEDLINE plus Medical Encyclopedia: Table of contents Tay-Sachs Disease: English Spanish Merck Manual Home Edition Table of contents Chapter 139. Disorders of Cholesterol and Other Fats: Access document Complete Home Medical Guide: Table of contents Brain, Nerve, and Muscle Disorders: Table of contents Disorders of the Central Nervous System: Access document Tay-Sachs Disease: Access document Spanish MEDLINE plus Medical Encyclopedia: Table of contents Tay-Sachs Disease: English Spanish Miscellaneous Tay-Sachs Disease Patient/Family Resources The Family Village Library - Specific Diagnoses Card Catalog Table of contents Tay-Sachs Disease: Access document Healthfinder (US DHHS): Homepage Genetics: List of documents National Library of Medicine MEDLINE plus Health Topics: Index Genetic Testing/Counseling:

60. Florida State University College Of Medicine Digital Library Clinical Resources by Topic Metabolic Disorders. taysachs diseaseClinical Resources. searches) Tay Sachs Disease List of documents. http://fsumed-dl.slis.ua.edu/clinical/metabolism/inborn/lysosomalstorage/sphingo

Clinical Resources by Topic: Metabolic Disorders Tay-Sachs Disease Clinical Resources Pediatrics Pathology Genetics Clinical Guidelines ... Miscellaneous Resources See also: Genetic Testing Clinical Resources Mental Retardation Clinical Resources General Genetic Disorders Clinical Resources General Metabolic Disorders Resources ... Tay Sachs Disease Patient/Family Resources Harrison's Principles of Internal Medicine 15th Ed.-2001: Table of contents Medical Library subscription INFO Chapter 349: Lysosomal Storage Diseases: Table of contents General Features: Access document Physiology of Lysosomes: Access document Pathogenesis of Lysosomal Storage Diseases: Access document Specific Disorders: Access document GM2 Gangliosidoses: Access document Chapter 365: Amyotrophic Lateral Sclerosis and Other Motor Neuron Diseases Table of contents Selected Disorders of the Lower Motor Neuron: Access document Hoffman: Hematology: Basic Principles and Practice 3rd Ed.-2000 (MD Consult): Table of contents Medical Library subscription INFO Chapter 44 - Lysosomal Storage Diseases: Perspective and Principles: Access document The Concept of the Lysosome: Access document Physiology of Lysosomes: Access document Pathophysiology of Lysosomal Storage Diseases: Access document Molecular Genetic Mechanisms of Lysosomal Storage Diseases: Access document Genotype/Phenotype Correlations: Access document Therapeutic Approaches and Implications: Access document Results and Lessons from Therapy: Access document Diagnosis of Lysosomal Storage Diseases: Access document Goetz: Textbook of Clinical Neurology 1st Ed.-1999 (MD Consult):

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