21. Center For Jewish Genetic Diseases - Department Of Human Genetics - Mount Sinai MSSM Home, Diseases canavan disease. anavan disease difficulties. The severity and life expectancy of children with canavan disease vary. Some http://www.mssm.edu/jewish_genetics/diseases/canavan.shtml

Diseases: Canavan Disease Until 1988 the diagnosis of Canavan disease required brain biopsy to show spongy degeneration of the white matter. In 1987, it was discovered that children with Canavan disease excrete increased amounts of a substance known as N-acetylaspartic acid (NAA) in their urine. Following this discovery, many diagnoses of Canavan disease were made by demonstration of increased NAA in the urine. Canavan disease is inherited in an autosomal recessive In November of 1998, the American College of Obstetricians and Gynecologists adopted a position statement recommending that Ashkenazi Jewish couples be offered carrier screening for Canavan disease. Ideally the screening should be offered prior to pregnancy, and may be offered in conjunction with carrier screening for Tay-Sachs disease. Because of the increased frequency of the disease in Ashkenazi Jews, as well as the ability to identify a majority of a carriers with a high degree of accuracy, population based screening programs for Canavan disease are being implemented in many communities. overview genetic diseases programs resources ... mssm home Questions? Contact the

22. Introduction: Canavan Disease - WrongDiagnosis.com Introduction to canavan disease as a medical condition including symptoms, diagnosis, misdiagnosis, treatment, prevention, and prognosis. http://www.wrongdiagnosis.com/c/canavan_disease/intro.htm

Diseases IMPORTANT! Use of this site is subject to our and Home Symptoms Diseases Risks Search: We show you all these ads in order to provide this free site; give your feedback WrongDiagnosis TM Premium Report: Diabetes Diagnosis and Misdiagnosis Available Now! Condition Lists By Organ By Symptom By Class By Prevalence ... List A-Z Current chapter: Canavan disease Next sections Basic Summary for Canavan disease Prevalence and Incidence of Canavan disease Prognosis of Canavan disease Risk Factors for Canavan disease ... Symptoms of Canavan disease Next chapters: Carpal Tunnel Syndrome Central Pain Syndrome Cerebral Aneurysm Cerebral Arteriosclerosis ... Feedback Introduction: Canavan disease Canavan disease: Rare genetic degenerative brain disease in infants. Canavan disease: Canavan disease is a rare, inherited, neurological disorder characterized by spongy degeneration of the brain (in which the white matter is replaced by microscopic fluid-filled spaces). It is caused by a deficiency of an enzyme called aspartoacylase. Canavan disease is one of a group of genetic disorders called the leukodystrophies that affect growth of the myelin sheath of the nerve fibers in the brain. The myelin sheath is the fatty covering surrounding nerve cells that acts as an insulator. Contents for Canavan disease: Basic Summary for Canavan disease Prevalence and Incidence of Canavan disease Prognosis of Canavan disease Risk Factors for Canavan disease ... Statistics about Canavan disease Footnotes:

23. Canavan Disease canavan disease information, national and international support groups, clinics with genetic counselors and geneticists. canavan disease. http://www.kumc.edu/gec/support/canavan.html

Canavan Disease The Canavan Research Fund 16 School St. Rye, NY 10580 E-mail: moondog@mail1.nai.net Web site: www.Canavan.org Canavan Foundation 110 Riverside Drive #4F New York, NY 10024 Phone: 212-873-4640 (toll free) 877-4-CANAVAN Fax: 212-873-7449 E-mail: Canavandisease@aol.com Web site: www.canavanfoundation.org What is Canavan disease? Canavan Research Illinois Also See: National organizations , information on genetic conditions or birth defects Canavan Disease , GeneClinics Canavan Disease , University of Pittsburgh Department of Human Genetics Canavan disease , Pediatric Database Canavan Disease Information Page , National Institute of Neurological Disorders and Stroke (NINDS) Leukodystrophy / other conditions Tay-Sachs disease / other conditions To locate a genetic counselor or clinical geneticist in your area: Professional Genetics Societies Genetic clinics, centers, departments Revised September 11, 2002 Genetic Societies Clinical Resources Labs Clinics ... Search Genetics Education Center Debra Collins, M.S. CGC

24. Pregnancy TaySachs, Gaucher, canavan disease, and Familial Dysautonomia. Individuals of Ashkinazi (East European) Jewish descent are at increased http://www.labtestsonline.org/understanding/conditions/pregnancy-12.html

TESTS Test not listed? A/G Ratio ACE ACT ACTH AFB Culture AFP Maternal AFP Tumor Marker Albumin Aldosterone Allergies ALP Alpha-1 Antitrypsin ALT Amylase ANA Antibody Tests Apo A Apo B ApoE Genotyping aPTT AST Autoantibodies Bilirubin Blood Culture Blood Gases Blood Smear BMP BNP Bone Markers BRCA BUN C-peptide CA-125 CA 15-3 CA 19-9 Calcium Cardiac Risk CBC CEA Celiac Disease Tests CF Gene Mutation Chlamydia Chloride Cholesterol CK CK-MB CMP CMV Coagulation Factors Complement Levels Cortisol Creatinine Creatinine Clearance CRP CRP, high-sensitivity Cystatin C D-dimer DHEAS Differential DLDL EGFR Electrolytes Electrophoresis ESR Estrogen Estrogen Receptors Factor V Leiden Fecal Occult Blood Ferritin fFN Fibrinogen Flu Tests Folate Fructosamine FSH Genotypic Resistance GFR GGT Glucose Gonorrhea Gram Stain Growth Hormone H-pylori hCG HDL Hematocrit Hemoglobin Hemoglobin Variants Hepatitis A Hepatitis B Hepatitis C Her-2/neu Herpes HIV Antibody HLA-B27 Home Tests Homocysteine HPV hs-CRP IGF-1

25. AllRefer Health - Canavan Disease (Aspartoacylase Deficiency, Spongy Degeneratio canavan disease (Aspartoacylase Deficiency, Spongy Degeneration of the Brain) information center covers causes, prevention, symptoms, diagnosis, treatment http://health.allrefer.com/health/canavan-disease-info.html

AllRefer Channels :: Yellow Pages Reference Health Home ... Contact Us Quick Jump ADD/ADHD Allergies Alzheimer's Disease Arthritis Asthma Back Pain Breast Cancer Cancer Colon Cancer Depression Diabetes Gallbladder Disease Heart Attack Hepatitis High Cholesterol HIV/AIDS Hypertension Lung Cancer Menopause Migraines/Headaches Osteoporosis Pneumonia Prostate Cancer SARS Stroke Urinary Tract Infection 1600+ More Conditions Alternative Medicine Health News Symptoms Guide Special Topics ... Medical Encyclopedia You are here : AllRefer.com Health Canavan Disease Canavan Disease Definition Prevention Treatment Expectations or Prognosis ... Go To Main Page Alternate Names : Aspartoacylase Deficiency, Spongy Degeneration of the Brain Definition Canavan disease is an inherited disorder of aspartic acid metabolism. It is characterized by degeneration of the white matter of the brain Canavan disease is inherited as an autosomal recessive trait. It is more common among Ashkenazi Jews than in the general population. A deficient enzyme , aspartoacylase, results in the accumulation of N-acetylaspartic acid in the brain. This causes a degeneration of the white matter. Typically, symptoms begin in the first year of life with loss of developmental milestones and death before 18 months of age.

26. AllRefer Health - Canavan Disease Prevention (Aspartoacylase Deficiency, Spongy canavan disease (Aspartoacylase Deficiency, Spongy Degeneration of the Brain) information center covers Prevention. canavan disease. http://health.allrefer.com/health/canavan-disease-prevention.html

AllRefer Channels :: Yellow Pages Reference Health Home ... Contact Us Quick Jump ADD/ADHD Allergies Alzheimer's Disease Arthritis Asthma Back Pain Breast Cancer Cancer Colon Cancer Depression Diabetes Gallbladder Disease Heart Attack Hepatitis High Cholesterol HIV/AIDS Hypertension Lung Cancer Menopause Migraines/Headaches Osteoporosis Pneumonia Prostate Cancer SARS Stroke Urinary Tract Infection 1600+ More Conditions Alternative Medicine Health News Symptoms Guide Special Topics ... Medical Encyclopedia You are here : AllRefer.com Health Canavan Disease : Prevention of Canavan Disease Canavan Disease Definition Prevention Treatment Expectations or Prognosis Complications Support Groups ... Go To Main Page Alternate Names : Aspartoacylase Deficiency, Spongy Degeneration of the Brain Canavan Disease Prevention Genetic counseling is recommended for prospective parents with a family history of Canavan disease. Whether you are a carrier for Canavan disease can be determined by enzyme analysis of skin cells. Prenatal diagnosis is possible. Previous Top Next Jump to another section Definition Canavan Disease Prevention Canavan Disease Treatment Canavan Disease Prognosis Canavan Disease Complications Canavan Disease Support Groups ... Calling Your Health Care Provider Topics that might be of interest to you Gastroesophageal Reflux in Infants Cranial CT Scan CSF Chemistry MRI of the Head ... Urine Chemistry Other Topics Aspartic Acid Autosomal Recessive Central Nervous System Enzyme ... White Matter of the Brain Review Date : 8/6/2003 Reviewed By : Douglas R. Stewart, M.D., Division of Medical Genetics, Hospital of the University of Pennsylvania, Philadelphia, PA. Review provided by VeriMed Healthcare Network.

27. Statement On Carrier Testing For Canavan Disease American College of Medical Genetics. Position Statement on Carrier Testing for canavan disease. canavan disease is a serious incurable http://www.faseb.org/genetics/acmg/pol-31.htm

American College of Medical Genetics Position Statement on Carrier Testing for Canavan Disease Canavan Disease is a serious incurable genetic disorder which causes mental retardation and is often fatal in childhood. It is cased by a genetic abnormality which produces a deficiency of the enzyme aspartoacylase and is inherited in an autosomal recessive pattern. Like Tay-Sachs Disease, Canavan Disease occurs at a higher frequency in individuals with Ashkenazi Jewish ancestry, estimated to be 1/40. The screening test to identify individuals who are carriers is a DNA-based test that is performed by only a few specialized laboratories. If both reproductive partners have an Ashkenazi Jewish background, we recommend that carrier testing for Canavan Disease be offered before pregnancy. If only one partner is of Ashkenazi Jewish descent, she/he should be offered carrier testing and the couple should be counseled regarding the limitations and benefits of carrier testing and prenatal diagnosis for this situation. If a family member is affected, the proband’s mutation(s) should be defined and the relatives should be offered screening for this mutation(s).

28. Canavan Disease - Digestion: Health And Medical Information Concerning Digestive canavan disease A severe progressive inherited (genetic) disorder of the central nervous system (CNS). The signs of canavan disease http://www.medterms.com/script/main/art.asp?articlekey=9254

29. Disease, Canavan - Digestion: Health And Medical Information Concerning Digestiv the central nervous system (CNS). The signs of canavan disease usually appear when the children are between 3 and 6 months of age. http://www.medterms.com/script/main/art.asp?articlekey=9255

30. Canavan Disease canavan disease Important It is possible that the main title of the report canavan disease is not the name you expected. Please http://my.webmd.com/hw/parenting_and_pregnancy/nord157.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 ... For a Complete Report Canavan Disease Important It is possible that the main title of the report Canavan Disease is not the name you expected. Please check the synonyms listing to find the alternate name(s) and disorder subdivision(s) covered by this report. Synonyms ACY2 Deficiency Aminoacylase-2 Deficiency Aspartoacylase Deficiency Canavan's Leukodystrophy Canavan-Van Bogaert-Bertrand Disease CD Spongy Degeneration of the Central Nervous System Spongy Degeneration of the Neuroaxis Van Bogaert-Bertrand Syndrome ASP Deficiency ASPA Deficiency Disorder Subdivisions None General Discussion Canavan disease is a rare inherited neurological disorder characterized by spongy degeneration of the brain and spinal cord (central nervous system). Physician symptoms that appear in early infancy may include progressive mental decline accompanied by the loss of muscle tone, poor head control, an abnormally large head (macrocephaly), and/ or irritability. Physical symptoms appear in early infancy and usually progress rapidly. Canavan disease is caused by an abnormality in the ASPA gene that leads to a deficiency of the enzyme aspartoacylase. Canavan disease is inherited as an autosomal recessive genetic disorder.

31. Canavan Disease Health Topics Symptoms Medical Tests Medications Wellness Support Organizations. Canavan Foundation. canavan disease Canavan Foundation International. http://my.webmd.com/hw/health_guide_atoz/shc29can.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 You are in Medical Library Choose a Topic Our Content Sources Ask A Question Clinical Trials Health Guide A-Z Health Topics Symptoms Medical Tests Medications ... Canavan Foundation Canavan Disease Canavan Foundation International. Founded 1992. Provides information , education, literature, phone support, conferences, advocacy and supports research towards the prevention of canavan. Online support and chat rooms available. WRITE: Canavan Foundation 110 Riverside Dr. 4F New York, NY 1024 CALL: 212-873-4640 TDD: 1-877-422-6282 FAX: 212-873-7892 E-MAIL: canavanfoundation.org WEBSITE: www.canavanfoundation.org VERIFIED: 5/8/2003 The above information is based upon information available through the "verified" date at the end of each listing. Since American Self-Help Group Clearinghouse's resources are limited; it is not possible to keep every entry in American Self-Help Group Clearinghouse database completely current and accurate. Please check with the organizations listed for the most current information. For additional information and assistance about self-help groups, please contact the American Self-Help Group Clearinghouse in Cedar Knolls, New Jersey, by email at: info@selfhelpgroups.org

32. Canavan Disease canavan disease. canavan disease. NINDS canavan disease information page. canavan disease / genetics. GeneReviews canavan disease. http://omni.ac.uk/browse/mesh/C0206307L0250263.html

low graphics Canavan Disease Canavan Disease Canavan Disease / genetics broader: Hereditary Central Nervous System Demyelinating Diseases other: Adrenoleukodystrophy Cockayne Syndrome Hepatolenticular Degeneration Hereditary Central Nervous System Demyelinating Diseases ... Tuberous Sclerosis Canavan Disease NINDS : Canavan disease information page This Web resource on Canavan disease (a rare, inherited, neurological disorder) is produced by the National Institute of Neurological Disorders and Stroke (NINDS). A description of Canavan disease is provided and available treatments, prognosis, and current research activities are all discussed. Links to related organisations are provided. This resource has a US focus. Patient Education Handout [Publication Type] Infant Child Canavan Disease Canavan Disease / genetics GeneReviews : Canavan disease Notes for physicians on Canavan disease (aspartoacylase deficiency, aspa deficiency). This document includes diagnosis, a clinical description, differential diagnosis, management, genetic counselling, and molecular genetics. Posted in September 1999 (updated October 2001), this resource forms part of GeneReviews (formerly GeneClinics profile), a peer-reviewed clinical genetic information resource that is funded by the US National Institutes of Health (NIH) and produced by the University of Washington, Seattle. This resource contains a summary and bibliographical references of the review. Free access to the full-text version of the review requires brief registration.

33. Health Care Information Resources Canavan Disease Links canavan disease Links. For resource. canavan disease Canavan Foundation canavan disease often attacks children in Ashkenazi Jewish families; http://www-hsl.mcmaster.ca/tomflem/canavan.html

34. Canavan Disease - Information / Diagnosis / Treatment / Prevention canavan disease. Web Directory ? canavan disease Information sheet compiled by NINDS, the National Institute of Neurological Disorders and Stroke. http://www.healthcyclopedia.com/neurological-disorders/demyelinating-diseases/le

Home Health cyclopedia All Topics by Category The Good Health Search Engine Health Conditions A-Z Gurus ... leukodystrophy > canavan Canavan Disease Information / Diagnosis / Treatment / Prevention External links (marked with an arrow ) open in a new window. This site is a web directory and does not offer medical advice. We cannot take responsibility for information found on listed sites. This Page Related Topics Medical Definition Health News Web Directory: Related Topics: Genetic Disorders Medical Definition: University of Newcastle-upon-Tyne Medical Dictionary: "canavan disease" Health News: Search millions of published articles for news on Canavan Disease Modern Medicine Aging The Ardell Wellness Report HealthFacts Medical Post Medical Update Men's Health and the National Women's Health Report Note: Subscription required to access the full text of articles. Web Directory: Canavan Disease Information sheet compiled by NINDS, the National Institute of Neurological Disorders and Stroke. Canavan Foundation Not-for-profit foundation providing information about Canavan disease, prenatal screening, support, and research. Canavan Research Fund The Canavan Research Fund is a not-for-profit organization dedicated to pioneering research that can treat and eventually cure Canavan and other genetic brain diseases.

35. Canavan Disease canavan disease is a rare inherited neurological disorder characterized by spongy degeneration of the brain and spinal cord (central nervous system). http://www.bchealthguide.org/kbase/nord/nord157.htm

document.write(''); var hwPrint=1; var hwDocHWID="nord157"; var hwDocTitle="Canavan Disease"; var hwRank="1"; var hwSectionHWID="nord157"; var hwSectionTitle=""; var hwSource="cn6.0"; var hwProdCfgSerNo="wsh_html_031_s"; var hwDocType="NORD"; National Organization for Rare Disorders, Inc. Canavan Disease Important It is possible that the main title of the report is not the name you expected. Please check the synonyms listing to find the alternate name(s) and disorder subdivision(s) covered by this report. Synonyms ACY2 Deficiency Aminoacylase-2 Deficiency Aspartoacylase Deficiency Canavan's Leukodystrophy Canavan-Van Bogaert-Bertrand Disease CD Spongy Degeneration of the Central Nervous System Spongy Degeneration of the Neuroaxis Van Bogaert-Bertrand Syndrome ASP Deficiency ASPA Deficiency Disorder Subdivisions None Related Disorders List Information on the following diseases can be found in the Related Disorders section of this report: Adrenoleukodystrophy Metachromatic Leukodystrophy (MLD) Krabbe's Leukodystrophy Alexander's Disease Balo Disease Tay-Sachs Disease General Discussion Canavan disease is a rare inherited neurological disorder characterized by spongy degeneration of the brain and spinal cord (central nervous system). Symptoms may include progressive mental decline accompanied by the loss of muscle tone, poor head control, an abnormally large head (macrocephaly), and/ or irritability. Symptoms appear in early infancy and usually progress rapidly. Canavan disease is caused by an abnormality in the ASPA gene that leads to a deficiency of the enzyme aspartoacylase. Canavan disease is inherited as an autosomal recessive genetic disorder.

36. Canavan Disease Self Help Clearinghouse. canavan disease. Canavan Foundation. International. Founded 1992. Provides information , education, literature http://www.bchealthguide.org/kbase/shc/shc29can.htm

document.write(''); var hwPrint=1; var hwDocHWID="shc29can"; var hwDocTitle="Canavan Disease"; var hwRank="1"; var hwSectionHWID="shc29can"; var hwSectionTitle=""; var hwSource="cn6.0"; var hwProdCfgSerNo="wsh_html_031_s"; var hwDocType="SHC"; Self Help Clearinghouse Canavan Disease Canavan Foundation International. Founded 1992. Provides information , education, literature, phone support, conferences, advocacy and supports research towards the prevention of canavan. Online support and chat rooms available. WRITE: Canavan Foundation 110 Riverside Dr. 4F New York, NY 1024 CALL: 212-873-4640 TDD: 1-877-422-6282 FAX: 212-873-7892 E-MAIL: canavanfoundation.org WEBSITE: www.canavanfoundation.org VERIFIED: 5/8/2003 The above information is based upon information available through the "verified" date at the end of each listing. Since American Self-Help Group Clearinghouse's resources are limited; it is not possible to keep every entry in the American Self-Help Group Clearinghouse database completely current and accurate. Please check with the organizations listed for the most current information. For additional information and assistance about self-help groups, please contact the American Self-Help Group Clearinghouse in Cedar Knolls, New Jersey, by email at: info@selfhelpgroups.org

37. Tay-Sachs & Canavan Diseases :: What Is Canavan Disease? Newborns with canavan disease appear healthy until between three and nine months of age when subtle changes are noticeable, such as visual inattentiveness or http://www.tay-sachs.org/canavan.php

Newborns with Canavan disease appear healthy until between three and nine months of age when subtle changes are noticeable, such as visual inattentiveness or an inability to grasp objects, roll over and perform other motor tasks. The child eventually becomes blind, but hearing remains sharp, so that affected children continue to respond to the voices of their caregivers. As the child grows, the presentation and progression of Canavan symptoms vary from one child to the next. In general, difficulties that surface include weak muscles that keep children from sitting or crawling, seizures and eating problems. Children with Canavan disease usually die in infancy or early childhood, although some survive into adolescence. Canavan disease (CD) belongs to a group of conditions known as leukodystrophies, characterized by defects in myelin, commonly known as the "white matter" in the brain. Myelin protects nerves and allows messages to be sent to and from the brain. All CD symptoms are explained by the progressive loss of myelin. As with Tay-Sachs, children with CD have an enzyme deficiency. The enzyme, aspartoacylase, is responsible for the break-down of a particular chemical in the brain. Without this enzyme, the chemical accumulates and causes the destruction of myelin.

38. Tay-Sachs & Canavan Diseases :: Medical Advances Number 212, November 1998 SCREENING FOR canavan disease canavan disease is a severe progressive genetic disorder of the central nervous system. http://www.tay-sachs.org/medical.php

AMERICAN COLLEGE OF OBSTETRICIANS AND GYNECOLOGISTS Note: This page reflects emerging clinical and scientific advances as of the date issued and is subject to change. The information should not be construed as dictating an exclusive course of treatment or procedure to be followed. The American College of Obstetricians and Gynecologists 409 12th Street, SW PO Box 96920 Washington, DC 20090-8020 Number 212, November 1998 SCREENING FOR CANAVAN DISEASE Canavan Disease is a severe progressive genetic disorder of the central nervous system. The clinical features of Canavan disease usually appear after the first few months of life and include developmental delay, macrocephaly, hypotonia, and poor head control. As the disease progresses, seizures, optic atrophy, gastrointestinal reflux, and deterioration of swallowing develop. Most children with Canavan disease die in the first decade of life. presently, there is no cure or effective therapy for Canavan disease. Canavan disease is caused by a deficiency of the enzyme aspartoacylase, which leads to increased excretion of its substrate, N-acetylaspartic acid (NAA). A diagnosis of Canavan disease is established by determining an increased level of urinary NAA by organic acid analysis. These abnormally high levels of NAA lead to demyelination and spongy degeneration of the brain, which cause the neurologic features of Canavan disease.

39. Canavan Disease - Genetics Home Reference Genetic disorder catalog. canavan disease. What is canavan disease? canavan disease is develop. How common is canavan disease? This disorder http://ghr.nlm.nih.gov/condition=canavandisease

A service of the U.S. National Library of Medicine Home Search Conditions Genes ... Help Canavan disease Related Gene(s) Quick links to this topic NIH Publications National Institutes of Health MedlinePlus Health Information Educational resources Information pages Patient support For patients and families Gene Reviews Clinical summary Gene Tests DNA test labs PubMed Recent literature OMIM Genetic disorder catalog Canavan disease What is Canavan disease? Canavan disease is an inherited disorder of the central nervous system in which affected individuals cannot break down a compound called N-acetyl-L-aspartic acid (NAA). Canavan disease is one of a group of genetic disorders called the leukodystrophies. The signs and symptoms of this disease usually begin early in infancy. The course of the condition can be quite variable, however. Signs and symptoms include developmental delay, particularly in motor skills such as such as sitting, standing, and walking; decreased muscle tone; increased head size (macrocephaly); abnormal posture; and mental retardation. Feeding and swallowing difficulties, seizures, and sleep disturbances may also develop. How common is Canavan disease?

40. Canavan Disease canavan disease. canavan disease is caused by an abnormality in the ASPA gene that leads to a deficiency of the enzyme aspartoacylase. http://www.meritcare.com/hwdb/showTopic.asp?pd_hwid=nord157

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