21. Dysautonomia Information Page National Institute Of Neurological NINDS Dysautonomia Information Page Synonym(s) Autonomic Dysfunction, familial dysautonomia, RileyDay Syndrome http://tmsyn.wc.ask.com/r?t=an&s=hb&uid=24312681243126812&sid=343126

22. Welcome To Cure FD Peruse the latest news on the work being done in finding a cure as well as finding information on familial dysautonomia. http://curefd.org

Welcome About FD News About Us ... Contact Us NEW NEWS Current News Letter Click Here California State Assemblyman Paul Koretz of the 42 nd Assembly District to discuss introducing a bill to the State Legislature which would include FD carrier testing. Click for details Message from Dr. Berish Rubin on 4-7-05. Click here Cure FD article in the new Ocean Scene Magazine. Click here Cure FD article in the July/August Privilege Magazine. Click Here Cure FD article in the Palisadian Post. Click Here APRIL 10 HAS COME AND GONE BUT THE MEMORIES LINGER ON Nine Rabbis and Cantors in Concert MC Mark Walberg Popular TV host Daniela and Mother Marcy Daniela is featured in the Cure FD videos below From the left, Amy Madnick, Al and Mavis Feinberg Photography by Amy Madnick Click to see more pictures CNN interviews with Mavis Feinberg president of Cure FD Click to view Cure FD With Kate Bilger a 22 minute quicktime movie. Click to view Cure FD's Video "Search fo a Cure" (copies available upon request) Cure FD Preview Cure FD Short Cure FD Full To view the preview, the short version or the full version of the video, click on the "play" button. Contact the Cure FD Foundation for a copy of these videos. It would help raise the awareness of FD if you would show the video to your organizations.

23. Dysautonomia, Familial familial dysautonomia is a rare genetic disorder of the autonomic nervous system (ANS) that primarily affects people of Eastern European Jewish http://tmsyn.wc.ask.com/r?t=an&s=hb&uid=24312681243126812&sid=343126

24. EMedicine - Familial Dysautonomia : Article By Robert A D'Amico, MD familial dysautonomia familial dysautonomia (FD) is an inherited disorder of the nervous system that affects the development and survival of autonomic and http://www.emedicine.com/oph/topic678.htm

(advertisement) Home Specialties Resource Centers CME ... Patient Education Articles Images CME Advanced Search Consumer Health Link to this site Back to: eMedicine Specialties Ophthalmology Genetic Disorders Familial Dysautonomia Last Updated: March 14, 2005 Rate this Article Email to a Colleague Synonyms and related keywords: Riley-Day syndrome, hereditary sensory and autonomic neuropathy type 3, FD, lack of tears, vision loss, dysautonomic crises AUTHOR INFORMATION Section 1 of 11 Author Information Introduction Clinical Differentials ... Bibliography Author: Robert A D'Amico, MD , Chairman, Department of Ophthalmology, St Vincent's Hospital and Medical Center; Clinical Professor, Department of Ophthalmology, New York University School of Medicine Coauthor(s): Felicia B Axelrod, MD , Director of Dysautonomia Treatment and Evaluation Center, Carl Seaman Family Professor, Departments of Pediatrics and Neurology, New York University School of Medicine Robert A D'Amico, MD, is a member of the following medical societies:

25. Sympathetic And Parasympathetic Baroreflex Dysfunction In Familial Sympathetic and parasympathetic baroreflex dysfunction in familial dysautonomia B. Stemper, MD , L. Bernardi, MD PhD , F. B. Axelrod, MD http://tmsyn.wc.ask.com/r?t=an&s=hb&uid=24312681243126812&sid=343126

26. Berish Rubin Director, Laboratory for familial dysautonomia Research Fordham University Larkin Hall Rm. 120 Bronx , New York 10458 Phone 718817-3650 Fax 718-817-2792 http://www.fordham.edu/biology/rubin/rubin.htm

Quicklinks Academic Calendar Admissions Office Alumni Affairs Blackboard Book Store Campus Ministry Development Office FAQs Financial Aid Graduate Schools OASIS Research Student Life Student Services Student Technology Manuals Undergraduate Schools University Home Page United Student Government WFUV Berish Y. Rubin Professor Department of Biological Sciences Fordham University 441 E. Fordham Rd. Bronx, NY 10458 Phone: 718-817-3637 FAX: 718-817-2792 rubin@fordham.edu CURRENT RESEARCH INTERESTS Dr. Rubin’s research effort currently focuses on the molecular biology of Familial Dysautonomia (FD). FD, also known as Riley-Day Syndrome or hereditary sensory neuropathy Type III, is an autosomal recessive disorder that affects the development and survival of sensory, sympathetic and some parasympathetic neurons. Individuals with FD are affected with a variety of symptoms which include decreased sensitivity to pain and temperature, cardiovascular instability, recurrent pneumonias, vomiting crises, blood pressure swings, an absence of overflow emotional tears and gastrointestinal dysfunction. This disorder is primarily confined to individuals of Ashkenazi Jewish descent. In the summer of 2000, Dr. Rubin’s laboratory directed its efforts on identifying the genetic cause of FD. The mutations responsible for FD

27. Familial Dysautonomia Researchers Receive $100,000 Grant NEW YORK —The Laboratory for familial dysautonomia Research received a $100000 grant from New York State to continue research of the neurological disease http://www.fordham.edu/Campus_Resources/Public_Affairs/Archives/2004/archive_341

Blackboard Oasis Academic Calendar Maps / Directions ... Back to 2004 Spring Familial Dysautonomia Researchers Receive $100,000 Grant Contact: Larkin, Michael mlarkin@fordham.edu NEW YORK New York State to continue research of the neurological disease Familial Dysautonomia (FD), which affects people of Ashkenazi Jewish descent. Led by Berish Rubin, Ph.D., chair of biological sciences, Fordham researchers discovered the genetic cause of the disease several years ago and later developed therapeutic treatments using basic vitamin supplements that have produced positive results in relieving the symptoms of FD. Founded in 1841, Fordham is New York City Jesuit University , offering exceptional education distinguished by the Jesuit tradition to approximately 15,800 students in its five undergraduate colleges and its six graduate and professional schools. It has residential campuses in the Bronx Manhattan and Tarrytown , and the Louis Calder Center Biological Field Station in Armonk N.Y. Site Map Calendar FAQs Jesuit Education Rose Hill Campus Bronx, NY 10458 (718) 817-1000 Lincoln Center Campus New York, NY 10023 (212) 636-6000

28. Familial Dysautonomia Research The purpose of the research being conducted by the Section on Pediatric Respiratory Medicine at Rush University Medical Center is to determine the http://www.rush.edu/rumc/page-R12512.html

Pediatric Pulmonology Pediatric Respiratory Medicine Pediatrics Respiratory Disorders (Pediatrics) Dysautonomia Study Bronchiolitis (Pediatric Study) Pediatric Asthma (Medication Study) Familial Dysautonomia Research Program Description Familial dysautonomia is one example of a group of disorders known as hereditary sensory and autonomic neuropathies, which are characterized by widespread sensory dysfunction and which have been found only in individuals of Ashkenazi Jewish descent. Familial dysautonomia is associated with irregularities in breathing and sleep structure, such as breath-holding, hypoxia (low oxygen), shortened period of active sleep and increased time to get to active sleep. Some of the symptoms found in babies with the disorder include: High prevalence of breech presentation births Poor muscle tone Weak or absent suck Respiratory congestion due to misdirected swallowing Blotching of skin Difficulty in maintaining temperature Older children with the disorder might experience: Breath holding in early years to the point of fainting Inappropriate temperature control with very high to very low temperatures Poor weight gain and growth Frequent lung infections Decreased reaction to pain or no reaction at all Cold, puffy hands and feet

29. Dysautonomia Study Cardiorespiratory Dysregulation in familial dysautonomia. familial dysautonomia is one example of a group of disorders known as hereditary sensory and http://www.rush.edu/rumc/page-1099611527471.html

Pediatric Pulmonology Pediatric Respiratory Medicine Respiratory Disorders (Pediatrics) Children's Hospital Bronchiolitis (Pediatric Study) Pediatric Asthma (Medication Study) Breathing Disorder in Rett Syndrome Dysautonomia Study Clinical Trial Protocol ID Clinical Trial Investigator Name Debra E. Weese-Mayer, MD Clinical Trial Title Cardiorespiratory Dysregulation in Familial Dysautonomia Clinical Trial Protocol Description Familial dysautonomia is one example of a group of disorders known as hereditary sensory and autonomic neuropathies, which are characterized by widespread sensory dysfunction and which have been found only in individuals of Ashkenazi Jewish descent. Familial dysautonomia is associated with irregularities in breathing and sleep structure, such as breath-holding, hypoxia (low oxygen), shortened period of active sleep and increased time to get to active sleep. Some of the symptoms found in babies with the disorder include: High prevalence of breech presentation births Poor muscle tone Weak or absent suck Respiratory congestion due to misdirected swallowing Blotching of skin Difficulty in maintaining temperature Older children with the disorder might experience: Breath holding in early years to the point of fainting Inappropriate temperature control with very high to very low temperatures Poor weight gain and growth Frequent lung infections Decreased reaction to pain or no reaction at all Cold, puffy hands and feet

30. Gene For Familial Dysautonomia Discovered Massachusetts General Hospital researchers have located the gene that causes familial dysautonomia (FD), a neurodegenerative disease that mainly targets http://www.researchmatters.harvard.edu/story.php?article_id=216

31. Chicago Center For Jewish Genetics Disorders - Ashkenazi Disorders: Familial Dys familial dysautonomia. This is a disorder which affects functions of the body such as familial dysautonomia Hope Foundation (FD Hope) 605 5th Avenue, NE http://www.jewishgeneticscenter.org/what/ashkenazi/familial.asp

Ashkenazi Disorders: Mendelian Photo courtesy of the Mallow family and FD Hope, Inc. Familial Dysautonomia This is a disorder which affects functions of the body such as swallowing, temperature regulation, sensitivity to heat and pain, and tearing of the eyes. This condition is seen almost exclusively in Ashkenazi Jews. Like most of the Jewish genetic disorders, this disease is inherited in a recessive fashion. There currently is no cure for FD but some treatments are available which can improve the length and quality of life. Disease frequency: 1 in 3,800 in Jewish population Carrier frequency: Approximately 1 in 30 in those of Jewish ancestry Diagnosis: Made by a physician knowledgeable of symptoms of FD or by genetic testing of the gene for FD by a blood test. Inheritance: Autosomal Recessive Carrier testing: Available through genetic testing of the FD gene. Testing can identify greater than 95% of Ashkenazi Jewish Carriers. Prenatal diagnosis: Done by genetic testing of the FD gene. Testing is available to those with a previously affected child or to couples found to be at risk through carrier testing. Technical Information on Familial Dysautonomia Additional Information: Dysautonomia Foundation, Inc.

32. Chicago Center For Jewish Genetics Disorders - Ashkenazi Disorders: Familial Dys Gene The gene causing familial dysautonomia is IKBKAP, which is located at 9q31. Traits familial dysautonomia (FD) is associated with poor development http://www.jewishgeneticscenter.org/what/ashkenazi/familial2.asp

Ashkenazi Disorders: Mendelian Familial Dysautonomia Gene: The gene causing familial dysautonomia is IKBKAP, which is located at 9q31. This encodes a protein involved in the development and maintenance of the sensory and autonomic nervous systems. Mutations and testing: Two mutations have been seen in all of the cases of familial dysautonomia tested for at this time. The major mutation is IVS2+6T-C and it accounts for more than 99.5% of mutant alleles seen thus far. With this mutation varying levels of wild-type message are expressed in a tissue-specific manner, with the deleted message seen only in the brain. In other words, the major mutation doesn't cause complete inactivation of the IKBKAP protein in all tissues of the body, only in the brain. The other mutation, the so-called "minor mutation," is R696P. As of 2001, only 4 patients have been reported to have the minor mutation. Each of these patients is a compound heterozygote for the major mutation and the minor mutation. No homozygotes for the minor mutation have been identified. Traits: Treatment: Treatment is supportive only. Artificial tears can be helpful, as well as medications to help control abnormal blood pressure, nausea, and vomiting.

33. Einstein - Familial Dysautonomia familial dysautonomia (FD), also known as RileyDay Syndrome, is a disease that causes the autonomic and sensory nervous systems to malfunction. http://www.einstein.edu/yourhealth/genetic/jewishgenetic/article8420.html

Network Home Employment Contact Us Search How Can We Help You? FIND .. .. A Physician .. Physician Referral .. An Einstein Facility .. Directions .. Health Information .. Patient/Visitor Info .. Patient Privacy .. Events .. Support Groups .. Employment .. Residency Programs TOOLS .. .. Site Search .. Site Index .. Site Help .. Contact Us ABOUT US .. .. Quality Healthcare .. Make a Difference .. About Us Your Health EINSTEIN HEALTH TOPICS .. Behavioral Health .. Cancer .. Diabetes .. Digestive Health .. Geriatric Services .. Genetic Services .. Heart Health .. Jewish Genetic Diseases .. Kidney/Pancreas .. Liver .. Medical Rehab .. Mental Health .. Neonatology .. Neurosurgery .. Older Adults .. Orthopaedics .. Physical Disabilities .. Primary Care .. Smoking Cessation .. Travel Health .. Weight Loss Surgery .. Women's Health HEALTH LIBRARY .. Conditions inFull .. Procedures inBrief .. Weekly Health Journals INTERACTIVE TOOLS .. Self-Assessment Tools .. Drug Database The disease is caused by mutations in the IKBKAP Currently, there is no cure for FD. Treatments aim at controlling symptoms and avoiding complications. Treatment strategies can include using special feeding techniques and special therapies, medications, artificial tears, respiratory care and orthopaedic management. Site Index Site Help Make a Difference Questions or comments about this site?

34. Dysautonomia Dysautonomia. Synonym familial dysautonomia. * Who to Contact * Where to Go to Chat with Others familial dysautonomia Hope Foundation http://www.familyvillage.wisc.edu/lib_dysa.htm

Dysautonomia Synonym: Familial Dysautonomia Who to Contact Where to Go to Chat with Others Learn More About It Web Sites ... Search Google for "Dysautonomia" Who to Contact Dysautonomia Foundation, Inc. (DF) 633 Third Avenue, 12th Floor New York, New York, USA, 10017 E-mail: info@familialdysautonomia.org Web: http://www.familialdysautonomia.org/ DF is a medical research organization with a focus on genetics and the search for the FD gene. Their goal is to increase understanding of all aspects of FD. They have local groups and support other groups wishing to start a local chapter. They publish a twice yearly newsletter, DYS Course , and have a brochure " Are You the One" that provides an explanation of FD, and its symptons. A new parent packet contains " A Manual of Comprehensive Care" , a letter of welcome and a history of the foundation. DF holds a yearly conference; call the Foundation for more details. Where to Go to Chat with Others FD Patients FD Patients' Group This e-group is for FD patients (Familial Dysautonomia) which the main goal is to create friendships between the adults so that we can share our personal achievements, joys, as well as difficulties. To have contact, exchange ideas, problems, ideas, and whatever we want. Learn to cope with FD instead of fighting against it. FD Support An open site where families who are directly affected by Familial Dysautonomia can talk to each other and receive support by others in the same "boat". This is a safe, non-threatening environment.

35. AllRefer Health - Riley-Day Syndrome (Familial Dysautonomia, Hereditary Sensory RileyDay Syndrome (familial dysautonomia, Hereditary Sensory and Autonomic Neuropathy - Type III) information center covers causes, prevention, symptoms, http://health.allrefer.com/health/riley-day-syndrome-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 Web health.allrefer.com You are here : AllRefer.com Health Riley-Day Syndrome Riley-Day Syndrome Definition Prevention Treatment Expectations or Prognosis ... Go To Main Page Alternate Names : Familial Dysautonomia, Hereditary Sensory and Autonomic Neuropathy - Type III Definition Riley-Day syndrome is an inherited disorder that affects the function of nerves throughout the body. Chromosomes and DNA Riley-Day syndrome is inherited as an autosomal recessive trait, which means that a person must inherit the defective gene from both parents in order to develop the condition. It is found predominantly in people of European Jewish descent (Ashkenazi Jews). The disease is caused by mutation of the IKBKAP gene on chromosome 9. It is rare in the general population, but not amongst Ashkenazi Jews, where the incidence is estimated to be 1 in 3,700 people.

36. AllRefer Health - Riley-Day Syndrome Support Groups (Familial Dysautonomia, Here RileyDay Syndrome (familial dysautonomia, Hereditary Sensory and Autonomic Neuropathy - Type III) information center covers Support Groups. http://health.allrefer.com/health/riley-day-syndrome-support.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 Web health.allrefer.com You are here : AllRefer.com Health Riley-Day Syndrome : Support Groups for Riley-Day Syndrome Riley-Day Syndrome Definition Prevention Treatment Expectations or Prognosis ... Complications Support Groups Calling Your Health Care Provider Go To Main Page Alternate Names : Familial Dysautonomia, Hereditary Sensory and Autonomic Neuropathy - Type III Riley-Day Syndrome Support Groups Additional resources are available from Familial Dysautonomia Hope. Call 847-913-9377. Previous Top Next Jump to another section Definition Riley-Day Syndrome Prevention Riley-Day Syndrome Treatment Riley-Day Syndrome Prognosis ... Riley-Day Syndrome Complications Riley-Day Syndrome Support Groups Calling Your Health Care Provider Topics that might be of interest to you Aspiration Pneumonia Diabetes Pneumonia Chest X-Ray Other Topics Autosomal Recessive Chronic Genetic Counseling and Prenatal Diagnosis Hypotonia ... Walking/Gait Abnormalities Review Date : 1/30/2003 Main Page of Riley-Day Syndrome From Our Sponsors: A.D.A.M., Inc. is accredited by URAC, also known as the American Accreditation HealthCare Commission (www.urac.org). URAC's

37. Familial Dysautonomia Definition - Medical Dictionary Definitions Of Popular Med Online Medical Dictionary and glossary with medical definitions. http://www.medterms.com/script/main/art.asp?articlekey=25964

38. Familial Dysautonomia familial dysautonomia Updated April 4, 2004 familial dysautonomia Univ Pittsburgh, Dept of Human Genetics PDF File; familial dysautonomia Jewish http://www.noah-health.org/en/genetic/conditions/dysauto.html

Skip navigation About NOAH Help English Spanish Both Advanced NOAH Genetic Diseases Change text size: Familial Dysautonomia Updated: April 4, 2004 Familial Dystautonomia Dysautonomia Treatment and Evaluation Center Familial Dysautonomia Univ Pittsburgh, Dept of Human Genetics Familial Dysautonomia "Jewish Genetic Disorders Program at Children's Memorial Hospital, Chicago IL FD Genetics Questions Dysautonomia Foundation Gene for Familial Dysautonomia Discovered Harvard College What is Dysautonomia? National Dysautonomia Research Foundation What is Familial Dysautonomia Dysautonomia Foundation Researched by NOAH Contributing Editor: NOAH Team NOAH Genetic Diseases Specific Conditions > Familial Dysautonomia Health Topics Index A to Z Page of the Month Advanced Search ... Feedback

39. Search Result For "Familial Dysautonomia" NOAH pages containing familial dysautonomia . Displaying 15 of 10 Familial Dystautonomia; familial dysautonomia; familial dysautonomia; http://www.noah-health.org/search/results.php?lang=1&keyword=Familial Dysautonom

40. Dysautonomia, Familial familial dysautonomia is a rare genetic disorder of the autonomic nervous system (ANS) that primarily http://my.webmd.com/hw/brain_nervous_system/nord47.asp

var guid_source = ""; var guid_source_id = ""; //unused var encodedurl = ""; WebMD Today Home WebMD News Center XML News via RSS Member Services WebMD University My WebMD Find a Physician Medical Info Check Symptoms Medical Library Health Tools Clinical Trials ... Women, Men, Lifestyle Who We Are About WebMD Site Map Health Topics Symptoms ... For a Complete Report Dysautonomia, Familial Important It is possible that the main title of the report Dysautonomia, Familial 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 FD Hereditary Sensory and Autonomic Neuropathy, Type III (HSAN, Type III) Hereditary Sensory Neuropathy Type III HSAN-III HSN-III Riley-Day Syndrome Disorder Subdivisions None General Discussion Familial Dysautonomia is a rare genetic disorder of the autonomic nervous system (ANS) that primarily affects people of Eastern European Jewish heritage. It is characterized by diminished sensitivity to pain, lack of overflow tearing in the eyes, a decrease in the number of knob-like projections that cover the tongue (fungiform papillae), unusual fluctuations of body temperature, and unstable blood pressure. Symptoms of this disorder are apparent at birth. The autonomic nervous system controls vital involuntary body functions. Resources Dysautonomia Foundation, Inc.

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