41. RILEY-DAY SYNDROME (FAMILIAL DYSAUTONOMIA) Features Listed For RILEYDAY SYNDROME (familial dysautonomia). McKusick223900. Absent or sparse tears; Aseptic necrosis of epiphysis; http://www.hgmp.mrc.ac.uk/dhmhd-bin/hum-look-up?1455

42. Ask Jeeves: Search Results For "Familial Dysautonomia Disease" Popular Web Sites for familial dysautonomia Disease . 1. NFJGD Fact Sheets - FamilialDysautonomia The National Foundation for Jewish Genetic Diseases, Inc. http://webster.directhit.com/webster/search.aspx?qry=Familial Dysautonomia Disea

43. Ask Jeeves: Search Results For "Dysautonomia" 1. NYU School of Medicine Dysautonomia Treatment Evaluation Center Visit thefamilial dysautonomia site for Dysautonomia Treatment and Evaluation Center http://webster.directhit.com/webster/search.aspx?qry=Dysautonomia

44. InteliHealth: referenced in an AZ format. familial dysautonomia. Health A to Z, Reviewedby the Faculty of Harvard Medical School familial dysautonomia http://www.intelihealth.com/IH/ihtIH/WSIHW000/9339/31667.html

Entire Site Diseases Conditions Healthy Lifestyle InteliTools Your Health IH Catalog Dental 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_shop_mo_2','http://img.intelihealth.com/i/C/Chr_mid_but_shop-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 Familial Dysautonomia What Is It?

45. Familial Dysautonomia - General Practice Notebook familial dysautonomia. familial dysautonomia is a rare syndrome causedby an inborn error of catecholamine metabolism. It is inherited http://www.gpnotebook.co.uk/cache/-637140978.htm

familial dysautonomia Familial dysautonomia is a rare syndrome caused by an inborn error of catecholamine metabolism. It is inherited in an autosomal recessive manner, mainly in Jews. Most sufferers die from respiratory infection or uraemia in early childhood. Click here for more information...

46. Riley-Day Syndrome Alternative Names familial dysautonomia; Hereditary sensory and autonomicneuropathy type III. Causes, incidence, and risk factors http://www.pennhealth.com/ency/article/001387.htm

Disease Injury Nutrition Poison ... Prevention Riley-Day syndrome Definition: An inherited disorder that affects sensory and autonomic nerve function in many body parts/systems. Alternative Names: Familial dysautonomia; Hereditary sensory and autonomic neuropathy - type III Causes, incidence, and risk factors: Riley-Day syndrome is inherited as an autosomal recessive trait that is found predominantly in the European Jewish population (Ashkenazi Jews). The disease is caused by mutation of the IKBKAP gene on chromosome 9. It is not rare in Ashkenazi Jews where the incidence is estimated to be 1 in 3700 people. Infants with this condition have feeding problems and develop pneumonia caused by inhalation of their formula and food. Episodic vomiting and sweating spells begin following infancy. Young children also have breath-holding spells that produce unconsciousness Insensitivity to pain is a hallmark of Riley-Day syndrome and leads to unnoticed injuries or injuries that might not have occurred had the child sensed discomfort. Children do not feel the normal sensations that generally warn of impending injury such as drying of the eyes, pressure over pressure points, and chronic rubbing and chaffing.

47. MEDLINEplus Medical Encyclopedia: Riley-Day Syndrome Alternative names Return to top familial dysautonomia; Hereditarysensory and autonomic neuropathy type III. Definition Return http://www.nlm.nih.gov/medlineplus/ency/article/001387.htm

Skip navigation Medical Encyclopedia Other encyclopedia topics: A-Ag Ah-Ap Aq-Az B-Bk ... Z Riley-Day syndrome Contents of this page: Illustrations Alternative names Definition Causes, incidence, and risk factors ... Prevention Illustrations Chromosomes and DNA Alternative names Return to top Familial dysautonomia; Hereditary sensory and autonomic neuropathy - type III Definition Return to top An inherited disorder that affects sensory and autonomic nerve function in many body parts/systems. Causes, incidence, and risk factors Return to top Riley-Day syndrome is inherited as an autosomal recessive trait that is found predominantly in the European Jewish population (Ashkenazi Jews). The disease is caused by mutation of the IKBKAP gene on chromosome 9. It is not rare in Ashkenazi Jews where the incidence is estimated to be 1 in 3700 people. Infants with this condition have feeding problems and develop pneumonia caused by inhalation of their formula and food. Episodic vomiting and sweating spells begin following infancy. Young children also have breath-holding spells that produce unconsciousness Insensitivity to pain is a hallmark of Riley-Day syndrome and leads to unnoticed injuries or injuries that might not have occurred had the child sensed discomfort. Children do not feel the normal sensations that generally warn of impending injury such as drying of the eyes, pressure over pressure points, and

48. Gov Proposes Legislation To Protect Adult Care Residents GOVERNOR PATAKI SIGNS BILL RECOGNIZING familial dysautonomia. ImportantNew Law Will Make it Easier for Afflicted Families to Receive Services. http://www.cqc.state.ny.us/govdysautonomia.htm

FOR IMMEDIATE RELEASE: July 31, 2002 GOVERNOR PATAKI SIGNS BILL RECOGNIZING FAMILIAL DYSAUTONOMIA Important New Law Will Make it Easier for Afflicted Families to Receive Services Governor George E. Pataki today signed into law legislation to expressly include familial dysautonomia (FD), a rare genetic disease, within the legal definition of "developmental disability." The new law will raise awareness of the disease and make it easier for families to receive needed services from government entities and service providers. "One-third of the worldwide FD patients reside in the greater New York City area, and we are committed to helping the families who must deal with this terrible disease on a daily basis," Governor Pataki said. "This new law will help to raise public awareness of this rare disease, while also ensuring that the families who are impacted by FD receive the support and services they need." Under State Law, a "developmental disability" is defined as a disability which is attributable to: mental retardation, cerebral palsy, epilepsy, neurological impairment or autism; any other condition of a person found to be closely related to mental retardation; or dyslexia. This bill would add FD to this list of disabilities. Senator Jim Lack said, "I commend Governor Pataki for making this commitment to Familial Dysautonomia patients and their families in New York State. This new law will not only raise awareness of the disease, it will make it easier for the patients and families to obtain much needed care and treatment."

49. 1Up Health > Health Links Directory > Conditions And Diseases: Neurological Diso Conditions and Diseases Neurological Disorders Autonomic NervousSystem familial dysautonomia . Uncover resources and links to http://www.1uphealth.com/links/autonomic-nervous-system-familial-dysautonomia.ht

Home Contact Us Privacy Caring For Your Well Being Alternative Medicine Clinical Trials Health News Poisons ... Health Topics A-Z Search 1Up Health Health Directory Addictions Alternative Animal ... Weight Loss By Demography Child Health Teen Health Men's Health Women's Health ... Autonomic Nervous System : Familial Dysautonomia See Related Categories Health: Conditions and Diseases: Genetic Disorders Health: Conditions and Diseases: Rare Disorders Sites The CaF Directory An article about familial dysautonomia and its inheritance patterns. Also information about a support group for those living in the UK. Dysautonomia Foundation Familial dysautonomia, press releases, information on summer camps for kids and adults, details about the organization and FD itself. Dysautonomia Treatment and Evaluation Center NYU School of Medicine Department of Pediatrics and Department of Neurology offers genetic information and counseling, patient care and staff information. Familial Dysautonomia Village Resource for families, researchers, and clinicians interested in FD. Also known as riley-day syndrome. FD Home Page A description of familial dysautonomia with a look at he clinical symptoms, diagnosis, genetics and genetic testing, and prevention and treatment.

50. 1Up Health > Riley-Day Syndrome (Familial Dysautonomia, Hereditary Sensory And A Comprehesive information on RileyDay syndrome (familial dysautonomia,Hereditary sensory and autonomic neuropathy - type III). http://www.1uphealth.com/health/riley_day_syndrome.html

1Up Health Alternative Medicine Clinical Trials Health News ... Health Topics A-Z Search 1Up Health Riley-Day syndrome Information Guide Alternative names : Familial dysautonomia, Hereditary sensory and autonomic neuropathy - type III Definition : An inherited disorder that affects sensory and autonomic nerve function in many body parts/systems. Jump to a Section of this Guide Definition Causes, Incidence, and Risk Factors Symptoms Prevention ... Calling your Health Care Provider Related Tools and Utilities Search Books on Amazon: Read Articles on eLibrary: Health Products on drugstore.com: Aspiration pneumonia Diabetes Pneumonia More ... More More Topics Autosomal recessive Blood pressure - low Chronic Genetic counseling and prenatal diagnosis ... More Search 1Up Health A.D.A.M., Inc. is accredited by URAC, also known as the American Accreditation HealthCare Commission (www.urac.org). URAC's accreditation program is the first of its kind, requiring compliance with 53 standards of quality and accountability, verified by independent audit. A.D.A.M. is among the first to achieve this important distinction for online health information and services. Learn more about A.D.A.M.'s editorial reviewers . A.D.A.M. is also a founding member of Hi-Ethics (www.hiethics.com) and subscribes to the principles of the Health on the Net Foundation (www.hon.ch). Home Contact Us Privacy Links Directory

51. Advanced Respiratory - Airway Clearance Indications Of Familial Dysautonomia Airway Clearance Indications of familial dysautonomia familial dysautonomiais an inherited dysfunction of the autonomic nervous system. http://www.abivest.com/conditions/factsheets/familialdys.asp?printVersion=1&gs=p

52. Center For Jewish Genetic Diseases - Mount Sinai School Of Medicine Clin Genet 232329, 1983. familial dysautonomia Dong J, Edelmann L, BajwaAM, Kornreich R, Desnick RJ. familial dysautonomia Detection http://www.nfjgd.org/resources.shtml

Resources: References Bloom's Syndrome Hickson ID, Davies SL, Li JL, Levitt NC, Mohaghegh P, North PS, Wu L. Role of the Bloom's Syndrome Helicase in Maintenance of Genome Stability. Biochem Soc Trans. 2001 May; 29(Pt. 2): 201-4. Gennery AR, Cant AJ, Jeggo PA. Immunodeficiency Associated with DNA Repair Defects. Clin Exp Immunol. 2000 Jul; 121(1): 1-7. Mathur R, Chowdhury MR, Singh G. Recent Advances in Chromosome Breakage Syndromes and their Diagnosis. Indian Pediatr. 2000 June; 37(6): 615-25. Yankiwski V, Marciniak RA, Guarente L, Neff NF. Nuclear Structure in Normal and Bloom Syndrome Cells. Proc Natl Acad Sci USA. 2000 May 9; 97(10): 5214-9. Roa BB, Savino CV, Richards CS. Ashkenazi Jewish Population Frequency of the Bloom Syndrome Gene 2281 delta6ins7 Mutation. Genet Test. 1999;3(2): 219-221. Li L, Eng C, Desnick RJ , German J, Ellis NA. Carrier frequency of the Bloom syndrome blmAsh mutation in the Ashkenazi Jewish population. Mol Genet Metab 64(4):286-90, 1998. Shahrabani-Gargir L, Shomrat R, Yaron Y, Orr-Urteger A, Groden J, Legum C. High Frequency of a Common Bloom Syndrome Ashkenazi Mutation Among Jews of Polish Origin. Genet Test. 1998; 2(4): 293-6.

53. HOME familial dysautonomia Hope Foundation. familial dysautonomia is a genetic disorderseen in individuals with Eastern European (Ashkenazi) Jewish descent. http://www.fdhope.org/home.htm

HOME ABOUT FD ABOUT FD HOPE FAMILY RESOURCES ... Site Map Familial Dysautonomia Hope Foundation Familial Dysautonomia (FD) is a progressive and fatal neurological disorder that affects the autonomic and sensory nervous systems. The major symptoms seen in FD include difficulty swallowing, autonomic crisis (episodes of vomiting, high blood pressure and fast heart rate , sweating, abdominal discomfort, and often fever), dizziness, decreased pain and temperature sensation, no tears when crying, spinal (back) curvature, delayed development, and low muscle tone. There is a wide range of symptoms and individuals vary in their presentation of the disease. Familial Dysautonomia is a genetic disorder seen in individuals with Eastern European (Ashkenazi) Jewish descent. FD is caused by mutations in the gene encoding for IKAP protein. There are 2 known mutations that cause FD; both are found exclusively among Ashkenazi Jews. 1 in 30 Ashkenazi Jews carries the major mutation for FD, a carrier rate similar to that of Tay-Sachs. Testing for both mutations is available throughout the world. If you are of Ashkenazi descent, we encourage you to be tested for both mutations that cause FD. Familial Dysautonomia is also known as Riley-Day Syndrome and Hereditary Sensory and Autonomic Neuropathy Type 3 (HSAN 3). Dysautonomia is a general term which refers to the dysfunction of the autonomic nervous system. Many diseases can have dysautonomia as a feature. These include Parkinson's disease, diabetes mellitus, mitochondrial disorders, metabolic disorders, autism, Shy-Drager syndrome, POTS syndrome, and multiple system atrophy. Familial Dysautonomia refers to the specific disorder caused by a mutation of the IKBKAP gene as described above.

54. Famdys familial dysautonomia. FD Village. FD Foundation. Jewish diseases. familial dysautonomia.familial dysautonomia is also known as Riley Day Syndrome. http://dysautonomia.homestead.com/famdys.html

Familial Dysautonomia FD Village FD Foundation Jewish diseases Familial Dysautonomia Familial Dysautonomia is also known as Riley Day Syndrome. Sufferers of this condition can not produce tears, have trouble swallowing and drool and sweat excessively. Other symptoms may include variable blood pressure,scoliosis, poor growth, and reduced mental capacity. Almost all reported cases have arisen within the Jewish population. There are various forms of testing including genetic testing for family members of people who have been diagnosed. Jewish diseases FD Foundation FD Village Familial Dysautonomia LINKS This page was last updated on: February 18, 2003

55. NINDS Dysautonomia Information Page Information sheet on dysautonomia including treatment and prognosis.Category Health Conditions and Diseases Dysautonomia...... NINDS Dysautonomia Information Page Synonym(s) Autonomic Dysfunction, FamilialDysautonomia Reviewed 225-2003 familial dysautonomia Hope, Inc. http://www.ninds.nih.gov/health_and_medical/disorders/dysauto_doc.htm

National Institute of Neurological Disorders and Stroke Accessible version Science for the Brain The nation's leading supporter of biomedical research on disorders of the brain and nervous system Browse all disorders Browse all health organizations More about Dysautonomia Studies with patients Research literature Press releases Search NINDS... (help) Contact us My privacy NINDS is part of the National Institutes of Health NINDS Dysautonomia Information Page Synonym(s): Autonomic Dysfunction, Familial Dysautonomia Reviewed 2-25-2003 Get Web page suited for printing Email this to a friend or colleague Table of Contents (click to jump to sections) What is Dysautonomia? Is there any treatment? What is the prognosis? What research is being done? ... Related NINDS Publications and Information What is Dysautonomia? Is there any treatment? There is no cure for dysautonomia. Secondary forms may improve with treatment of the underlying disease. In many cases treatment of primary dysautonomia is symptomatic and supportive. Measures to combat orthostatic hypotension include elevation of the head of the bed, frequent small meals, a high-salt diet, and drugs such as fludrocortisone, midodrine, and ephedrine. What is the prognosis?

56. NINDS - News And Events F, Fabry's Disease Fahr's Syndrome Fainting familial dysautonomia Familial HemangiomaFamilial Spastic Paralysis Febrile Seizures Fisher Syndrome Friedreich's http://www.ninds.nih.gov/health_and_medical/news.htm

National Institute of Neurological Disorders and Stroke Accessible version Science for the Brain The nation's leading supporter of biomedical research on disorders of the brain and nervous system Browse all disorders Browse all health organizations More about a disorder Studies with patients Research literature Press releases Search NINDS... (help) Contact us My privacy NINDS is part of the National Institutes of Health Please Select a Disorder (includes synonyms and research topics) Select a letter to jump to the disorder... or return to top of page A B C D ... Z A ADHD AIDS - Neurological Manifestations Acquired Epileptiform Aphasia Acute Disseminated Encephalomyelitis ... Autonomic Dysfunction Select a letter to jump to the disorder... or return to top of page A B C D ... Z B Back Pain Barth Syndrome Batten Disease Behcet's Disease ... Bulbospinal Muscular Atrophy Select a letter to jump to the disorder... or return to top of page A B C D ... Z C Canavan Disease Carpal Tunnel Syndrome Causalgia Cavernomas ... Cytomegalovirus Infection Select a letter to jump to the disorder... or return to top of page A B C D ... Z D Dancing Eyes-Dancing Feet Syndrome Dandy-Walker Syndrome Dawson Disease De Morsier's Syndrome ... Dystonias Select a letter to jump to the disorder... or return to

57. Health Library - Dysautonomia, Familial familial dysautonomia is a rare genetic disorder of the autonomic nervous system(ANS) that primarily affects people of Eastern European Jewish heritage. http://yalenewhavenhealth.org/library/healthguide/IllnessConditions/topic.asp?hw

58. Gynecological Aspects Of Female Familial Dysautonomia Gynecological Aspects of Female familial dysautonomia Click here for article writtenby Channa Maayan, MD, Onit Sela, MD, Felicia Axelrod, MD, D'vorah Kidron http://212.199.79.240/imaj/sep00-4.htm

59. Eli Mass 1993 (pp. 288293) (Abstract). 6. E. Mass, H. Sarnat, D. Ram, N. GadothDental and oral findings in patients with familial dysautonomia. http://www.tau.ac.il/dental/Pedo/mass.html

Dr. Eli Mass, DMD Lecturer in Pediatric Dentistry School of Dental Medicine Tel: 972-3-6409230 Fax: 972-3-6409250 (dept. fax) e-mail: elimas@post.tau.ac.il PUBLICATIONS ARTICLES (Click on the links to see the Abstracts) 1. K.A. Rosenzweig, E. Mass, P. Smith La denture des Samaritains Bull Group Int Rech Sc Stomat Vol.12, 1969 (pp.95-106) 2. A. Buchner, E. Mass Focal epithelial hyperplasia in an Israeli family Oral Surg Oral Med Oral Pathol Vol.36, 1973 (pp.507-511) 3. E. Mass, U.L. Zilberman Endodontic treatment of infected primary teeth, using Maisto's paste Journal of Dentistry for Children. Vol.56, 1989 (pp.117-120) ( Abstract 4. U. Zilberman, E. Mass, H. Sarnat Partial pulpotomy in carious permanent molars American Journal of Dentistry. Vol.2, 1989 (pp.147-150) 5. E. Mass, H. Sarnat Single maxillary central incisors in the midline. Journal of Dentistry for Children. Vol.58, 1991 (pp.413-416) Selected for publication in The Yearbook of Dentistry. 1993 (pp. 288-293) ( Abstract 6. E. Mass, H. Sarnat, D. Ram, N. Gadoth Dental and oral findings in patients with familial dysautonomia.

60. Orthoguide.com Familial Dysautonomia Search results for familial dysautonomia . NO MATCHES FOUNDPlease select a differentkeyword or category OR Search AltaVista for 'familial dysautonomia'. http://www.orthoguide.com/ortho/Familial_Dysautonomia.php3

Search results for "Familial Dysautonomia" NO MATCHES FOUND-Please select a different keyword or category OR Search AltaVista for 'Familial Dysautonomia' Global Search Add Url Free Medline ... Search Enter Keywords to Search and Your Choice of Search Arguments Or And Match entire phrase Orthoguide.com

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