21. Tay-Sachs & Canavan Diseases :: What Is Tay-Sachs Disease? A baby with taysachs disease appears healthy at birth, and seems to be Children with tay-sachs disease lack a vital enzyme, hexosaminidase A (Hex-A). http://www.tay-sachs.org/taysachs.php

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. Over time, the child becomes blind, deaf, mentally retarded, paralyzed and non responsive to the environment. Tay-Sachs children usually die by age five. Children with Tay-Sachs disease lack a vital enzyme, hexosaminidase A (Hex-A). Hex-A is needed for the body to break down a fatty waste substance found in brain cells. Without Hex-A, this substance accumulates abnormally and causes progressive damage until the nervous system can no longer sustain life. WHY IS A BABY BORN WITH TAY-SACHS DISEASE? 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 child who inherits two Tay-Sachs genes (one from each parent) produces no functional Hex-A enzyme and is certain to develop Tay-Sachs disease. A person with only one Tay-Sachs gene is perfectly healthy, but is a Tay-Sachs carrier. When both parents are carriers, there is a 1 in 4 (25%) chance, with every pregnancy, of having a child with Tay-Sachs disease.

22. GeneDis Tay-Sachs Mutations Web Site taysachs disease. Scientific editor Prof. Ruth Navon Department of Human Genetics, Sackler School of Medicine, Tel Aviv University, Israel. http://tmsyn.wc.ask.com/r?t=an&s=hb&uid=24312681243126812&sid=343126

23. MedlinePlus: Tay-Sachs Disease From the National Institutes of Health; Learning about taysachs disease (National Human Information from the Medical Encyclopedia; tay-sachs disease http://www.nlm.nih.gov/medlineplus/taysachsdisease.html

@import url(http://www.nlm.nih.gov/medlineplus/images/advanced.css); Skip navigation Other health topics: A B C D ... List of All Topics Tay-Sachs Disease Contents of this page: From the NIH Overviews Prevention/Screening Genetics ... Information from the Medical Encyclopedia Search MEDLINE/PubMed for recent research articles on Tay-Sachs Disease You may also be interested in these MedlinePlus related pages: Brain and Nervous System Genetics/Birth Defects From the National Institutes of Health Learning about Tay-Sachs Disease (National Human Genome Research Institute) Lipid Storage Diseases (National Institute of Neurological Disorders and Stroke) Tay-Sachs Disease (National Institute of Neurological Disorders and Stroke) - Short Summary Overviews Tay-Sachs Disease (March of Dimes Birth Defects Foundation) Also available in: Spanish What is Tay-Sachs Disease? (Dolan DNA Learning Center) Prevention/Screening Chorionic Villi Sampling (CVS) (American Association for Clinical Chemistry) Genetic Counseling (Nemours Foundation) Genetic Testing for Inherited Diseases (American Association for Clinical Chemistry) Genetic Testing for Newborns at Increased Risk (American Association for Clinical Chemistry) Specific Conditions Sandhoff Disease (National Institute of Neurological Disorders and Stroke) - Short Summary Genetics Genetics Home Reference: GM2-gangliosidosis, AB variant

24. MedlinePlus Medical Encyclopedia: Tay-Sachs Disease taysachs disease is a familial disorder (it affects more than 1 member of a family) that tay-sachs disease is caused by a deficiency of hexosaminidase, http://www.nlm.nih.gov/medlineplus/ency/article/001417.htm

@import url(/medlineplus/images/advanced.css); Skip navigation Medical Encyclopedia Other encyclopedia topics: A-Ag Ah-Ap Aq-Az B-Bk ... Z Tay-Sachs disease Contents of this page: Definition Causes, incidence, and risk factors Symptoms Signs and tests ... Prevention Definition Tay-Sachs disease is a familial disorder (it affects more than 1 member of a family) that results in early death. It is found predominantly in Ashkenazi Jewish families. 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 in 25 members of the Ashkenazi Jewish population carries the gene. Tay-Sachs has been classified into infantile, juvenile, and adult forms, depending on the type of symptoms and when they first appear. The majority of people with Tay-Sachs have the infantile form. Symptoms generally begin to appear when the child is 3 - 6 months old. The disease tends to progress rapidly, and the child usually dies by the age of 4 or 5 years.

25. Show HD Leaflets A description along with prognosis and treatment of this disease. http://www.healthtouch.com/bin/EContent_HT/showAllLfts.asp?lftname=NINDS201&cid=

26. Center For Jewish Genetic Diseases - Department Of Human Genetics - Mount Sinai cause infantile taysachs disease in Ashkenazi Jewish individuals have been identified. tay-sachs disease is inherited in an autosomal recessive manner. 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

27. Center For Jewish Genetic Diseases - Department Of Human Genetics - Mount Sinai Canavan Disease Familial Dysautonomia Fanconia Anemia Gaucher Disease Mucolipidosis IV NiemannPick Disease tay-sachs disease Torsion Dystonia http://www.mssm.edu/jewish_genetics/genetic_diseases.shtml

n almost every ethnic, racial, or demographic group, certain genetic diseases occur at higher frequencies among their members than in the general population. Such is the case for the Jewish people. The genetic diseases described in this area are disorders that occur more frequently in individuals of Ashkenazi Jewish ancestry, although with the exception of familial dysautonomia they may occur among individuals of other ethnic backgrounds as well. Most are severely incapacitating, and some are tragically debilitating, leading to death in infancy or early childhood. This section provides an informative, up-to-date "fact sheet" on each of the most commonly described Ashkenazi Jewish genetic diseases. The specific nature of the genetic defect, major symptoms and disease course, diagnostic tests (including prenatal diagnosis and carrier detection), and available disease management and treatment are briefly presented for each disorder. Bloom's Syndrome Canavan Disease Familial Dysautonomia Fanconia Anemia ... mssm home Questions? Contact the Web Development Office

28. Tay-Sachs Disease This site contains information about taysachs disease. http://www.mamashealth.com/tay.asp

Mamashealth.com Home Category Links About Us Allergies Autoimmune Disorders Blood Diseases ... Read Health Books Links Email Mama Apply for the $600 MamasHealth Scholarship Home Warranty Rebate 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. What causes Tay-Sachs?

29. Tay-Sachs Disease - Wikipedia, The Free Encyclopedia Infants with taysachs disease appear to develop normally for the first few Patients and carriers of tay-sachs disease can be identified by a simple http://en.wikipedia.org/wiki/Tay-Sachs_disease

You did it! Over US$240,000 was donated in the 21-day fund drive. Thank you for your generosity! You are still welcome to make a donation or purchase Wikimedia merchandise Tay-Sachs disease From Wikipedia, the free encyclopedia. Tay-Sachs disease (abbreviated TSD ) is a fatal genetic disorder , inherited in an autosomal recessive pattern, in which harmful quantities of a fatty substance called ganglioside GM2 accumulate in the nerve cells in the brain The disease is named after the British ophthalmologist Warren Tay who first described the red spot on the retina of the eye in , and the American neurologist Bernard Sachs who described the cellular changes of Tay-Sachs and noted an increased prevalence in the Eastern European Jewish population of Contents Signs and symptoms Pathogenesis Testing Therapy ... edit Signs and symptoms 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.

30. Tay-Sachs Disease Symptoms Causes Diagnosis Treatments Information about taysachs disease, which usually affects those of Jewish decent. Covers causes, symptoms, diagnosis, and treatment of Tay-Sachs, http://womenshealth.about.com/od/taysachsdisease/

zJs=10 zJs=11 zJs=12 zJs=13 zc(5,'jsc',zJs,9999999,'') zfs=0;zCMt='a06' About Women's Health Women's Health Head to Toe Tay Sachs Disease Women's Health Essentials What Do My Symptoms Mean? Women's Health Treaments ... Help zau(256,140,140,'el','http://z.about.com/0/ip/417/C.htm','');w(xb+xb+' ');zau(256,140,140,'von','http://z.about.com/0/ip/496/7.htm','');w(xb+xb); FREE Newsletter Sign Up Now for the Women's Health newsletter! See Online Courses 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 Our Story Be a Guide ... New York Times Company Around About Hurricane Katrina Photo Gallery: Europe Photo Gallery: Las Vegas Strip World's Best Spas ... Nudity and the Spa What's Hot PMS and You - Symptoms and Tre Uterine Cancer FAQs-The Uterus Symptoms of Stroke Myomectomy an Alternative to H ... Treatment for Severe Nodular or Cystic Acne Headlines Is This Normal Menstruation?

31. InteliHealth: Tay-Sach's Disease taysachs disease is an inherited disease caused by an abnormal gene. Children with tay-sachs disease can become deaf, blind and paralyzed, http://www.intelihealth.com/IH/ihtIH/WSIHW000/9339/11032.html

chrome_imgPreload('gifChr_mid_but_home_mo_1','http://img.intelihealth.com/i/C/Chr_mid_but_home-o.gif'); chrome_imgPreload('gifChr_mid_but_comm_mo_2','http://img.intelihealth.com/i/C/Chr_mid_but_comm-o.gif'); chrome_imgPreload('gifChr_mid_but_dental_mo_3','http://img.intelihealth.com/i/C/Chr_mid_but_dental-o.gif'); chrome_imgPreload('gifChr_mid_but_drug_mo_4','http://img.intelihealth.com/i/C/Chr_mid_but_drug-o.gif'); chrome_imgPreload('gifChr_mid_but_askexpert_mo_5','http://img.intelihealth.com/i/C/Chr_mid_but_askexpert-o.gif'); chrome_imgPreload('gifChr_mid_but_medical_mo_6','http://img.intelihealth.com/i/C/Chr_mid_but_medical-o.gif'); chrome_imgPreload('gifChr_mid_but_chats_mo_7','http://img.intelihealth.com/i/C/Chr_mid_but_chats-o.gif'); chrome_imgPreload('gifchr_mid_but_news_mo_8','http://img.intelihealth.com/i/c/chr_mid_but_news-o.gif'); chrome_imgPreload('gifChr_mid_but_privacy_mo_9','http://img.intelihealth.com/i/C/Chr_mid_but_privacy-o.gif'); Advertisement Tay-Sachs Disease What Is It? Symptoms Diagnosis Expected Duration ... Additional Info What Is It? Tay-Sachs disease is an inherited disease caused by an abnormal gene. People with this abnormal gene do not have an important enzyme called hexosaminidase A (HEXA) that helps to break down a fatty material called ganglioside GM2. This material builds up in the brain, and eventually damages nerve cells and causes neurological problems.

32. Tay-Sachs Disease - Genetics Home Reference Where can I find additional information about taysachs disease? What if I still have specific questions about tay-sachs disease? http://ghr.nlm.nih.gov/condition=taysachsdisease

Home What's New Browse Handbook ... Search Tay-Sachs disease Related Gene(s) Quick links to this topic NIH Publications National Institutes of Health MedlinePlus Health Information Genes and Disease Genetic disorder summaries Educational resources Information pages Patient support For patients and families Gene Reviews Clinical summary Gene Tests DNA test labs ClinicalTrials.gov Research studies PubMed Recent literature OMIM Genetic disorder catalog References Tay-Sachs disease On this page: What is Tay-Sachs disease? How common is Tay-Sachs disease? ... help with understanding Tay-Sachs disease? What is Tay-Sachs disease? Tay-Sachs disease is a rare inherited disorder that causes progressive destruction of nerve cells in the brain and spinal cord. The most common form of Tay-Sachs disease begins in infancy. Infants with this disorder typically appear normal until the age of 3 to 6 months, when development slows and muscles used for movement weaken. Affected infants lose motor skills such as turning over, sitting, and crawling. As the disease progresses, infants develop seizures, vision and hearing loss, mental retardation, and paralysis. An eye abnormality called a cherry-red spot, which can be identified with an eye examination, is characteristic of this disorder. Children with this severe form of Tay-Sachs disease usually live only into early childhood. Other forms of Tay-Sachs disease are much rarer. Signs and symptoms can begin in childhood, adolescence, or adulthood and are usually milder than those seen with the infantile form of Tay-Sachs disease. As in the infantile form, mental abilities and coordination are affected. Characteristic features include muscle weakness, loss of muscle coordination (ataxia) and other problems with movement, speech problems, and mental illness. These signs and symptoms vary widely among people with late-onset forms of Tay-Sachs disease.

33. Tay-Sachs Disease CHC Wausau Hospital s Medical Library and Patient Education Center provides research services and healthcare information to physicians, 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.

34. Tay-Sachs Disease: Definition And Much More From Answers.com taysachs disease ( ta saks ) n. A hereditary disease that affects young children almost exclusively of eastern European Jewish descent, in which. http://www.answers.com/topic/tay-sachs-disease

showHide_TellMeAbout2('false'); Business Entertainment Games Health ... More... On this page: Dictionary Encyclopedia Medical WordNet Wikipedia Mentioned In Or search: - The Web - Images - News - Blogs - Shopping Tay-Sachs disease Dictionary Tay-Sachs disease tā săks n. A hereditary disease that affects young children almost exclusively of eastern European Jewish descent, in which an enzyme deficiency leads to the accumulation of gangliosides in the brain and nerve tissue, resulting in mental retardation, convulsions, blindness, and, ultimately, death. [After Warren Tay (1843–1927), British physician, and Bernard Sachs (1858–1944), American neurologist.] Encyclopedia Tay-Sachs disease tā -săks ) , 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. Course of the Disease The enzyme involved in Tay-Sachs is called hexosaminidase A. Its absence allows a lipid called GM

35. Tay-Sachs Disease Hub Links to information and resources for taysachs disease. http://www.genomelink.org/taysachs/

Tay-Sachs disease is a heritable metabolic disorder in which harmful quantities of a fatty substance called ganglioside GM2 accumulate in the nerve cells in the brain. 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. Patients and carriers of Tay-Sachs disease can be identified by a simple blood test that measures hexosaminidase A activity. Acne Allergy Antibiotics Antioxidants ... NINDS Tay-Sachs Disease Information Page - by The National Institute of Neurological Disorders and Stroke, National Institutes of Health. UMMC - Tay-Sachs Disease - from University of Michigan Health System. Tay-Sachs Disease from NCBI Tay-Sachs: DNA Technology is the future of diagnosis - by Michael Frye. Tay-Sachs disease by MEDLINEplus - updated by Jonathan Fanaroff, M.D., Department of Pediatrics, Rainbow Babies and Children's Hospital, Case Western Reserve University, Cleveland, OH. Tay-Sachs disease by The National Foundation for Jewish Genetic Diseases Tay-Sachs Disease: Testing a Popoulation at Risk - by Lisa A. Lombard, Amherst College.

36. Genome.gov | Learning About Tay-Sachs Disease Answers to frequently asked questions about taysachs disease, published by the National Human Genome Research Institute. http://www.genome.gov/10001220

triggerParms["cpp_5"] = "Referer:"+ cppUrlPatch (""); // Optional Home About NHGRI Newsroom Staff ... Specific Genetic Disorders Learning About Tay-Sachs Disease Print Version Learning About Tay-Sachs Disease What do we know about heredity and Tay-Sachs disease? Is there a test for Tay-Sachs disease? NHGRI Clinical Research on Tay-Sachs Additional Resources for Tay-Sachs Disease Information What Do We Know About Heredity and 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 is caused by the absence of a vital enzyme called hexosaminidase-A (Hex-A). Without Hex-A, a fatty substance, or lipid, called GM2 ganglioside accumulates abnormally in cells, especially in the nerve cells of the brain. This ongoing accumulation causes progressive damage to the cells. In children, the destructive process begins in the fetus early in pregnancy, although the disease is not clinically apparent until the child is several months old. By the time a child with Tay-Sachs is three or four years old, the nervous system is so badly affected that death usually results by age five. A baby with Tay-Sachs disease appears normal until about six months of age when its development slows. By about two years of age, most children experience recurrent seizures and diminishing mental function. The infant gradually regresses, and is eventually unable to crawl, turn over, sit or reach out. Eventually, the child becomes blind, mentally retarded, paralyzed and non-responsive.

37. Genome.gov | Learning About Tay-Sachs Disease taysachs diseasetay-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 http://www.genome.gov/page.cfm?pageID=10001220

38. NORD - National Organization For Rare Disorders, Inc. taysachs disease is a rare, neurodegenerative disorder in which Symptoms associated with tay-sachs disease may include an exaggerated startle response http://www.rarediseases.org/search/rdbdetail_abstract.html?disname=Tay Sachs Dis

39. Tay-Sachs Disease Prevention - Wolper Jewish Hospital Wolper Jewish Hospital is a private nondenominational medical hospital sponsored by the Australian Jewish Community. Based in the Eastern suburbs of Sydney http://www.wolper.com.au/Programs/Tay-Sachs/tay-sachs.html

What is Tay-Sachs disease? Tay-Sachs disease (TSD) is an inherited (genetic), incurable disease of the central nervous system. In the classical form, symptoms first appear at about the age of 6 months, when an apparently healthy baby stops smiling, crawling or turning over, loses their ability to grasp or reach out, and gradually becomes blind and paralysed. There is no cure for the disease and death usually occurs before the age of five years. Babies with TSD do not have the correct genetic information to tell his/her body to produce an enzyme called B-Hexosaminidase A (HexA), which is necessary for breaking down certain substances in the brain and nerve cells. These substances then accumulate in the nerve cells causing irreversible damage. Who gets Tay-Sachs disease? Genetic diseases are often more common in specific community groups. TSD is most common amongst descendants of Central and Eastern European (Ashkenazi) Jews and some French Canadians. What causes Tay-Sachs disease? TSD is caused by inheriting a 'double-dose' of a fault in a gene which codes for the HexA enzyme. Every person has two copies of this gene in each cell of their body. A person will only be affected by TSD if s/he has a fault (mutation) in both copies of the HEXA 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 HEXA gene. Carriers themselves are not affected by the disease.

40. Tay-Sachs Disease (www.whonamedit.com) taysachs disease A genetic disorder characterized by mental and motor deterioration and death within third year of life. Also known as Adson s syndrome 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. A recommendation: Hypography is an open community about science and all things related 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.

A  B  C  D  E  F  G  H  I  J  K  L  M  N  O  P  Q  R  S  T  U  V  W  X  Y  Z

Page 2     21-40 of 102    Back | 1  | 2  | 3  | 4  | 5  | 6  | Next 20