21. The Dysautonomia Foundation, Inc. Information, referrals and fundraising for research and clinic maintenance.Peer support for families affected by familial dysautonomia. Newsletter. http://www.medhelp.org/amshc/amshc333.htm

Title: NE Dubowitz Syndrome Support Description: Information, education, support and networking for parents of children with Dubowitz syndrome, and concerned professionals. Information on assistive technology. Information and referrals, pen pals, advocacy, information on geneticists and other professionals. Scope: Model Number Groups: 1 group in Rhode Island Founded: Address: c/o Sharon Terzian 106 Verndale St. Warwick, Rhode Island, 02889 United States Telephone: Email: flamingo@ids.net This information has been generously provided by The American Self Help Clearinghouse and hosted by Med Help International . Please send corrections/updates to ed@selfhelpgroups.org Updated: 02/2003

22. Jewish Genetic Diseases Program - What Is A Jewish Genetic Disease familial dysautonomia. familial dysautonomia affects the “automatic” andsensory functions of the body. FD Net For familial dysautonomia families. http://www.sbhcs.com/genetics/other/famdys.html

Familial Dysautonomia Familial Dysautonomia affects the “automatic” and sensory functions of the body. Patients can have difficulties with breathing, digestion, regulation of heart rate and blood pressure, kidney function, temperature adjustment, growth, and bodily reactions to stress. They have decreased sensitivity to pain. Some of the common signs include absence of tears with crying, lack of bumps on the tongue, decreased reflexes, and an abnormal reaction to allergy testing. Treatments are available to address the various difficulties. About 1 in 30 Ashkenazi Jews are carriers of this disorder. DNA analysis detects over 99.5% of carriers.. Dysautonomia Foundation, Inc. (DF) 633 Third Avenue, 12th Floor New York, New York, USA, 10017 Phone: Fax: Website: http://www. familialdysautonomia.org Dysautonomia Treatment and Evaluation Center NYU School of Medicine 530 First Avenue NY, NY 10016

23. Familial Dysautonomia And The Brain Behavior Enigma familial dysautonomia and the Brain Behavior Enigma. Avis Brennan.An understanding of the brain is essential to developing safe and http://serendip.brynmawr.edu/bb/neuro/neuro01/web1/Brennan.html

This paper was written by a student in a course at Bryn Mawr College, and reflects that student's research and thoughts at the time the paper was written. Like other things on Serendip , the paper is not intended to be "authoritative" but is instead provided to encourage others to themselves learn about and think through subjects of interest, and, by providing relevant web links, to serve as a "window" to help them do so. Web links were active as of the time the paper was posted but are not updated. Biology 202 2000 First Web Report On Serendip Familial Dysautonomia and the Brain Behavior Enigma Avis Brennan An understanding of the brain is essential to developing safe and effective treatments for disorders of the nervous system and for advancing our understanding of the human experience. Nervous system disorders cost the US more than $400 billion in medical expenses each year . In addition to having great clinical significance, such research offers a valuable perspective into the nature of the brain-behavior relationship. The extent to which the brain is organized in terms of overt behavior remains an open question. Because it is difficult to ethically manipulate the neural composition of humans in the laboratory setting, our understanding of the biological and neurophysiological influences on behavior is limited. In the spirit of this class, I have decided to take an alternate route to untangling the connections between brain and behavior. In this paper, I will discuss Familial Dysautonomia, a neurological disease that encapsulates the relationship between sensation, perception, emotion, physiological response and the nervous system.

24. Familial Dysautonomia Hope, Inc. Return to Search Page familial dysautonomia Hope, Inc. Conditions Dysautonomia,Familial; Dysautonomia, Familial Primary; Dysautonomia, Other - Secondary. http://www.geneticalliance.org/diseaseinfo/displayorganization.html?orgname=Fami

25. Familial Dysautonomia, DNA Analysis (511352) familial dysautonomia, DNA Analysis (511352). familial dysautonomia is causedby mutations of the IKAP gene. Am J Hum Genet. 2001; Mar; 68(3)753758. http://www.labcorp.com/datasets/labcorp/html/chapter/mono/NF00001690.htm

Familial Dysautonomia, DNA Analysis (511352) CPT Synonyms Riley-Day Syndrome; Jewish Heritage; IVS20+6T>C; R696P Specimen Whole blood, amniotic fluid, or chorionic villus sample. Submission of maternal blood is required for fetal testing. Volume 7 mL Minimum Volume 3 mL Container Lavender-stopper (EDTA) tube. For fetal testing, use 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 Carrier detection of familial dysautonomia in the Ashkenazi Jewish population. DNA testing may be used to confirm affected status. Limitations This test has limited value in individuals who are not of Ashkenazi Jewish descent. Because this procedure is new, Medicare and other carriers may not yet recognize it as a covered benefit for patients. Methodology Allele-specific polymerase chain reaction (PCR) and gel electrophoresis. References Dong J, Edelmann L, Bajwa AM, Kornreich R, Desnick RJ. Familial dysautonomia: Detection of the IKBKAP IVS20 +6T>C and R696P mutations and frequencies among Ashkenazi Jews.

26. Fordham Team Discovers Cause Of Familial Dysautonomia Fordham Team Discovers Cause Of familial dysautonomia. http://www.fordham.edu/general/Whats_New/archive113.html

Fordham Team Discovers Cause Of Familial Dysautonomia Spring Summer Fall Contact: Finnegan, Lisa lfinnegan@fordham.edu NEW YORK (Jan. 9) - Fordham University researchers have identified the cause of a genetic disease that affects one in 30 individuals of Ashkenazi Jewish descent. The findings are scheduled to appear in the American Journal of Human Genetics in March. The Fordham team used the DNA sequence decoded by the Human Genome Project to determine the cause of Familial Dysautonomia (FD). FD is a disorder that affects a person’s autonomic nervous system, which controls such involuntary functions as swallowing, digestion, temperature and blood pressure regulation. Individuals suffering from FD, which is as prevalent as the more familiar Tay Sachs disorder, also have problems perceiving sensations, such as pain and heat. This can be so severe that researchers say an FD sufferer leaning on a boiling pot may not feel it and could be seriously burned. The lifespan of FD sufferers is severly compromised and often includes long hospital stays. The Fordham team found that FD, which affects people of Ashkenazic Jewish descent, is caused by mutations in the IKAP gene, found in chromosone 9.

27. Dysautonomia DF holds a yearly conference; call the Foundation for more details. Whereto Go to Chat with Others. FDNET For familial dysautonomia families. 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 AltaVista for "Dysautonomia" Who to Contact Dysautonomia Foundation, Inc. (DF) 20 East 46th Street- Room 302 New York, New York, USA, 10017 Fax: [212] 682-7625 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-NET For Familial Dysautonomia families. To subscribe, send a message to: listserver@relay.doit.wisc.edu

28. NEJM -- Deficient Sympathetic Nervous Response In Familial Dysautonomia Original Article from The New England Journal of Medicine Deficientsympathetic nervous response in familial dysautonomia. http://content.nejm.org/cgi/content/short/294/12/630

HOME SEARCH CURRENT ISSUE PAST ISSUES ... HELP Previous Volume 294:630-633 March 18, 1976 Number 12 Next Deficient sympathetic nervous response in familial dysautonomia MG Ziegler, CR Lake, and IJ Kopin Table of Contents Find Similar Articles in the Journal Notify a friend about this article Add to Personal Archive ... Related Articles in Medline Articles in Medline by Author: Ziegler, M. G. Kopin, I. J. Medline Citation Abstract Norepinephrine concentration and dopamine-beta-hydroxylase activity were measured in the plasma of 10 dysautonomic patients and 10 normal subjects while they were reclining, standing and exercising. While reclining, dysautonomic patients had normal norepinephrine concentrations and blood pressure, but after standing they did not have a normal increase in their levels of norepinephrine (P less than 0.005), dopamine-beta-hydroxylase (P less than 0.05) or plasma protein concentration (P less than 0.01); they became hypotensive. In reclining dysautonomic patients there appeared to be a correlation between blood pressure and plasma norepinephrine concentration. These data support the view that hypertension and hypotension in dysautonomia are related to the rate of norepinephrine release. This article has been cited by other articles: Bernardi, L., Hilz, M., Stemper, B., Passino, C., Welsch, G., Axelrod, F. B. (2003). Respiratory and Cerebrovascular Responses to Hypoxia and Hypercapnia in Familial Dysautonomia.

29. NEJM -- Deficient Sympathetic Nervous Response In Familial Dysautonomia Deficient sympathetic nervous response in familial dysautonomia MG Ziegler, CR Lake,and IJ Kopin. Ictal SPECT during autonomic crisis in familial dysautonomia. http://content.nejm.org/cgi/content/abstract/294/12/630

HOME SEARCH CURRENT ISSUE PAST ISSUES ... HELP Previous Volume 294:630-633 March 18, 1976 Number 12 Next Deficient sympathetic nervous response in familial dysautonomia MG Ziegler, CR Lake, and IJ Kopin Table of Contents Find Similar Articles in the Journal Notify a friend about this article Add to Personal Archive ... Related Articles in Medline Articles in Medline by Author: Ziegler, M. G. Kopin, I. J. Medline Citation Abstract Norepinephrine concentration and dopamine-beta-hydroxylase activity were measured in the plasma of 10 dysautonomic patients and 10 normal subjects while they were reclining, standing and exercising. While reclining, dysautonomic patients had normal norepinephrine concentrations and blood pressure, but after standing they did not have a normal increase in their levels of norepinephrine (P less than 0.005), dopamine-beta-hydroxylase (P less than 0.05) or plasma protein concentration (P less than 0.01); they became hypotensive. In reclining dysautonomic patients there appeared to be a correlation between blood pressure and plasma norepinephrine concentration. These data support the view that hypertension and hypotension in dysautonomia are related to the rate of norepinephrine release. This article has been cited by other articles: Bernardi, L., Hilz, M., Stemper, B., Passino, C., Welsch, G., Axelrod, F. B. (2003). Respiratory and Cerebrovascular Responses to Hypoxia and Hypercapnia in Familial Dysautonomia.

30. ClinicalTrials.gov - Linking Patients To Medical Research Search Query Details. No studies were found for familial dysautonomia ALLFIELDS.Modify Your Search. Individual Terms, Count. familial dysautonomia , None. http://www.clinicaltrials.gov/search/term=Familial Dysautonomia

31. PCR-Based DNA Diagnostic Analysis Of Familial Dysautonomia (FD) From Hair PCRBased DNA Diagnostic Analysis of familial dysautonomia (FD) FromHair. Jennifer S. Milhalovich and Edward T. Blake Forensic Science http://www.promega.com/geneticidproc/ussymp6proc/milhal.htm

Catalog Site PCR-Based DNA Diagnostic Analysis of Familial Dysautonomia (FD) From Hair Jennifer S. Milhalovich and Edward T. Blake Forensic Science Associates, 3053 Research Drive, Richmond, CA in utero FD disease assay. Ultimately the affected family conceived twins, one of which was allowed to develop to full term and was born healthy. This case illustrates the proposition that forensic science, like all science, is a problem solving discipline that shares the common tools of the scientific community. Go to proceedings home page

32. GeneReviews: Familial Dysautonomia Your browser does not support HTML frames so you must view familial dysautonomiain a slightly less readable form. Please follow this link to do so. http://www.geneclinics.org/query?dz=fd

33. ORPHANET® : Familial Dysautonomia ORPHANET database access. familial dysautonomia. Direct access to details Alias Hereditary sensory and autonomic neuropathy 3,RileyDay syndrome. Home Page. http://www.orpha.net/static/GB/familial_dysautonomia.html

ORPHANET database access Familial dysautonomia Direct access to details Alias : Home Page

34. Familial Dysautonomia (FD) - DNA Analysis familial dysautonomia, FD, DNA Analysis. familial dysautonomia (FD) is an inheritedsensory neuropathy that affects individuals of Ashkenazi Jewish descent. http://imgen.bcm.tmc.edu/medgen/tests/dna/fd.htm

FAMILIAL DYSAUTONOMIA (FD) DNA ANALYSIS IKBKAP IKBKAP gene that are associated with Familial Dysautonomia in the Ashkenazi Jewish population. Reasons For Referral: Confirmation of individuals with symptoms compatible with the diagnosis of Familial Dysautonomia Carrier testing in individuals with a positive family history of FD Population carrier screening in individuals of Ashkenazi Jewish descent with no family history of FD. Prenatal diagnosis of FD for couples at 1:4 risk Testing Methodology: FD is available as a single test, or as part of a larger panel of Ashkenazi Jewish disease panel. Contact the lab for more information. Sensitivity: Specimen Requirements: Blood: Adults 7-14 cc; Child: 5 cc; Infant: 3 cc Prenatal diagnosis: Two sets of fetal samples and blood samples from both parents are required for prenatal testing. Maternal cell contamination studies are also performed. Please contact the laboratory for specific sample information for prenatal testing. A requisition form and signed consent form must accompany the specimen. Genetic counseling is recommended prior to any genetic testing. Turnaround Time: 2-3 weeks CPT Codes and Prices References: Slaugenhaupt SA, et al. (2001) Am. J. Hum. Genet. 68:598-605

35. Riley-Day Syndrom/Familial Dysautonomia RileyDay Syndrom/familial dysautonomia. Subject Riley-Day Syndrom/FamilialDysautonomia; From MMARCHE@KIOWA.ASTATE.EDU (MARY K. MARCHE'); http://www.b9.com/dysphagia/1996-September/msg00032.html

36. Riley-Day Syndrom/Familial Dysautonomia RileyDay Syndrom/familial dysautonomia. Subject Riley-Day Syndrom/FamilialDysautonomia; From hadas_e@netvision.net.il (Hadas Eyal); http://www.b9.com/dysphagia/1996-September/msg00024.html

37. FD Support Groups The following organizations may be contacted for more information and supportinformation for familial dysautonomia Dysautonomia Foundation, Inc. http://www.ndrf.org/familial.htm

NDRF National Dysautonomia Research Foundation 1407 W Fourth Street, Suite 160, Red Wing, MN 55066-2108 Phone: (651) 267-0525 Fax: (651) 267-0524 Be sure to visit the NDRF Reference Page where you can learn more about the NDRF Patient Handbook, Videos and other reference materials. The following organizations may be contacted for more information and support information for Familial Dysautonomia: Dysautonomia Foundation, Inc. www.med.nyu.edu/fd/fdcenter.html Lenore Roseman 20 East 46 th Street Fax: 212 682-7625 Room 302 New York, NY 10017 Familial Dysautonomia Hope www.fdvillage.org email: Info@FDVillage.org EASTERN OFFICE: Sonia Peltzer, MD Webmaster, FD Village 1457 O'Brian Dr. Newton, NC 28658 MIDWEST OFFICE: Ken Slaw, PhD 1170 Green Knolls Drive Buffalo Grove, IL 60089-1144 The National Dysautonomia Research Foundation (NDRF) has established this site to help inform afflicted patients, physicians and the general public on the various forms of Dysautonomia. It is our desire to give timely, as well as, accurate information, however NDRF will not be responsible for the misinterpretation of the information provided. Medical questions and information, should be reviewed with your physician.

38. Links Back to Top. familial dysautonomia. The following sites provide informationon familial dysautonomia Dysautonomia Foundation Inc. http://www.ndrf.org/linksto.htm

NDRF National Dysautonomia Research Foundation 1407 W Fourth Street, Suite 160, Red Wing, MN 55066-2108 Phone: (651) 267-0525 Fax: (651) 267-0524 Be sure to visit the NDRF Reference Page where you can learn more about the NDRF Patient Handbook, Videos and other reference materials. This page contains links to web sites and pages having to do with Dysautonomia. It is not a complete listing, and please, Be Advised: Medical information should always be reviewed with your physician. The information is divided into the following categories: Acute Idiopathic Polyneuritis - Guillain-Barré Syndrome Familial Dysautonomia Government Links Medical Facilities Links ... Other Sites Acute Idiopathic Polyneuritis - Guillain-Barré Syndrome The following sites provide information on Acute Idiopathic Polyneuritis - Guillain-Barré Syndrome: Guillain-Barré Syndrome Foundation International http://www.webmast.com/gbs/ Guillain-Barré Syndrome Fact Sheet - National Institutes of Health, NINDS http://www.ninds.nih.gov/health_and_medical/pubs/guillain_barre.htm Physician Information About Acute Immune Polyneuropathies - Washington University School of Medicine, St. Louis, MO http://www.neuro.wustl.edu/neuromuscular/antibody/gbs.htm

39. Familial Dysautonomia only. familial dysautonomia,, Print this article, see Riley Day syndromeDR The Encyclopaedia of Medical Imaging Volume III1, Disclaimer http://www.amershamhealth.com/medcyclopaedia/Volume III 1/FAMILIAL DYSAUTONOMIA.

Medcyclopaedia About Medcyclopaedia Amersham Health Search for: Type a word or a phrase. All forms of the word are searchable. Advanced search Browse entry words starting with: A B C D ... Other characters Try our Medcyclopaedia Premium Edition with added tools and functionality tailored to make your working day easier. The following tools are presently available: Expanded search *For Medical Professionals only, registration required Familial dysautonomia, see Riley Day syndrome DR The Encyclopaedia of Medical Imaging Volume III:1 Welcome to Medcyclopaedia. This site is open to a public audience, still we want to know a little more about our visitors. Please tick off the boxes that match your profile. Do you live in Europe? Yes No Are you a medical professional? Yes No This frame will disappear when submitted Legal Contact us Making Waves

40. Familial Dysautonomia only. familial dysautonomia,, Print this article, see Riley Day syndromeHC The Encyclopaedia of Medical Imaging Volume VII, Disclaimer http://www.amershamhealth.com/medcyclopaedia/Volume VII/FAMILIAL DYSAUTONOMIA.as

Medcyclopaedia About Medcyclopaedia Amersham Health Search for: Type a word or a phrase. All forms of the word are searchable. Advanced search Browse entry words starting with: A B C D ... Other characters Try our Medcyclopaedia Premium Edition with added tools and functionality tailored to make your working day easier. The following tools are presently available: Expanded search *For Medical Professionals only, registration required Familial dysautonomia, see Riley Day syndrome HC The Encyclopaedia of Medical Imaging Volume VII Welcome to Medcyclopaedia. This site is open to a public audience, still we want to know a little more about our visitors. Please tick off the boxes that match your profile. Do you live in Europe? Yes No Are you a medical professional? Yes No This frame will disappear when submitted Legal Contact us Making Waves

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