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         Riley-day Syndrome:     more detail

21. ThirdAge - Adam - Riley-Day Syndrome
rileyday syndrome. Definition riley-day syndrome is an inherited disorder that affects the function of nerves throughout the body. Alternative Names
http://www.thirdage.com/health/adam/ency/article/001387.htm
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Riley-Day syndrome
Definition: Riley-Day syndrome is an inherited disorder that affects the function of nerves throughout the body.
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, 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. Infants with this condition have feeding problems and develop pneumonia caused by breathing their formula and food into their airways. Vomiting and sweating spells begin as the infant matures. Young children may also have breath-holding spells that produce unconsciousness , since they can hold their breath for long enough to pass out without feeling the discomfort that normal children would.

22. Database Search Results
Health and Human Services.. Searched keywords for rileyday syndrome. Dysautonomia Treatment and Evaluation Center. NHIC Home Page
http://www.health.gov/nhic/NHICScripts/Hitlist.cfm?Keyword=Riley-Day Syndrome

23. Dysautonomia, Familial
Hereditary Sensory Neuropathy Type III; HSANIII; HSN-III; riley-day syndrome. Disorder Subdivisions None. General Discussion Familial
http://my.webmd.com/hw/health_guide_atoz/nord47.asp
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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 ... 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.

24. Index
RI Rib Gap Defects with Micrognathia Ribbing Disease (obsolete) Rickets Rickets, Vitamin D Deficiency Rieger Syndrome rileyday syndrome Riley-Smith syndrome
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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 ... Support Organizations Search the Help Health Topics Click a letter to see a list of topics beginning with that letter A B C D ... RW R r 18 back to top R( r(22) back to top back to top back to top ... back to top RA Rabies Rabson-Mendenhall Syndrome Radial Aplasia-Amegakaryocytic Thrombocytopenia Radial Aplasia-Thrombocytopenia Syndrome ... back to top RC RCC back to top RD RDD back to top RE Receiving light therapy at home to treat SAD Recklinghausen's Phakomatosis Recognizing and dealing with teen substance use Reconstructive Surgery ... back to top RG RGS back to top RH Rh Disease Rh Sensitization During Pregnancy Rheumatic Chorea Rheumatic Purpura ... back to top RI Rib Gap Defects with Micrognathia Ribbing Disease (obsolete) Rickets Rickets, Vitamin D Deficiency

25. Familial Dysautonomia - Information / Diagnosis / Treatment / Prevention
Familial Dysautonomia Village Resource for families, researchers, and clinicians interested in FD. Also known as rileyday syndrome.
http://www.healthcyclopedia.com/neurological-disorders/autonomic-nervous-system/

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Related Topics: Genetic Disorders Rare Disorders Medical Definition: University of Newcastle-upon-Tyne Medical Dictionary: "familial dysautonomia" Health News: Search millions of published articles for news on Familial Dysautonomia 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: 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.

26. Riley-Day Syndrome
rileyday syndrome. Subject riley-day syndrome; From colin.rudolph@chmcc.org (Colin Rudolph); Date Fri, 06 Sep 1996 190410 -0400.
http://list.dysphagia.com/dysphagia/1996-September/msg00025.html
Date Prev Date Next [Chronological] [Thread] ... [Top]
Riley-Day syndrome

27. Dysautonomia, Familial - Quest Diagnostics Patient Health Library
HSANIII; HSN-III; riley-day syndrome. Disorder Subdivisions. None. General Discussion. Familial Dysautonomia is a rare genetic disorder
http://www.questdiagnostics.com/kbase/nord/nord47.htm
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National Organization for Rare Disorders, Inc.
Dysautonomia, Familial
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
  • 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.

28. Dysautonomia, Familial
HSANIII; HSN-III; riley-day syndrome. Disorder Subdivisions. None. Related Disorders List. Information on the following diseases can
http://www.bchealthguide.org/kbase/nord/nord47.htm
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National Organization for Rare Disorders, Inc.
Dysautonomia, Familial
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
  • 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
Related Disorders List
Information on the following diseases can be found in the Related Disorders section of this report:
  • Congenital Sensory Neuropathy with Anhidrosis Biemond Congenital and Familial Analgesia Hereditary Sensory Neuropathy (HSAN II)
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.

29. Riley-Day Syndrome
rileyday syndrome. Alternative Names Definition riley-day syndrome is an inherited disorder that affects the function of nerves throughout the body.
http://lebonheur.adam.com/pages/content.asp?genId=001387&proj=1&lang=en

30. InteliHealth:
What Is It? Familial dysautonomia (FD), also called rileyday syndrome, is an inherited disorder that affects the nervous system.
http://www.intelihealth.com/IH/ihtIH/WSIHW000/9339/31667.html
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Familial Dysautonomia (FD)
  • What Is It? Symptoms Diagnosis Expected Duration ... Additional Info
  • What Is It? Familial dysautonomia (FD), also called Riley-Day syndrome, is an inherited disorder that affects the nervous system. People who are born with FD have fewer nerve fibers for carrying sensations. For this reason, they have trouble feeling pain, temperature, skin pressure and the position of their arms and legs. They can't experience taste fully. They also have abnormally low levels of a natural chemical called norepinephrine that helps to relay messages between nerve cells.

    31. Welcome To AJC!
    Ency. home Disease R rileyday syndrome. riley-day syndrome. Overview Symptoms Treatment Prevention. Ency. home Disease R riley-day syndrome.
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    ajc store Gifts Photos/pages Browser tip  Make ajc.com  your homepage: ajc guides Schools Visitors Illustrated Health Encyclopedia Important notice Ency. home Disease R Riley-Day syndrome Overview Symptoms Treatment Prevention 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. Causes and Risks 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

    32. HealthCentral - Pediatrics Encyclopedia - Riley-Day Syndrome
    rileyday syndrome. Prevention Genetic counseling is recommended for prospective parents if there is a family history of riley-day syndrome.
    http://www.healthcentral.com/peds/top/001387.cfm
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    33. Riley-Day Syndrome
    rileyday syndrome. Definition riley-day syndrome is an inherited disorder that affects the function of nerves throughout the body. Alternative Names
    http://www.shands.org/health/information/article/001387.htm
    Disease Injury Nutrition Poison ... Chromosomes and DNA
    Riley-Day syndrome
    Definition: Riley-Day syndrome is an inherited disorder that affects the function of nerves throughout the body.
    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, 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. Infants with this condition have feeding problems and develop pneumonia caused by breathing their formula and food into their airways. Vomiting and sweating spells begin as the infant matures. Young children may also have breath-holding spells that produce unconsciousness , since they can hold their breath for long enough to pass out without feeling the discomfort that normal children would.

    34. Blackwell Synergy - Cookie Absent
    1157.2003.52802.x. Familial Dysautonomia (rileyday syndrome) May Be Associated With Epilepsy. Juan G. Ochoa. To the Editor I am reporting
    http://www.blackwell-synergy.com/links/doi/10.1046/j.1528-1157.2003.52802.x/full
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    35. ORPHANET - Rare Diseases - Orphan Drugs
    DISEASE Familial dysautonomia, Synonym(s) Hereditary sensory and autonomic neuropathy 3 rileyday syndrome, ICD G90.1, No description is available, MIM 223900,
    http://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=GB&Expert=1764

    36. ORPHANET® : Base De Données Sur Les Maladies Rares Et Les Médicaments Orpheli
    Rieger syndrome Right atrium familial dilatation Right ventricular hypoplasia Rigid mask like face deafness polydactyly rileyday syndrome Ring chromosome 17
    http://www.orpha.net/Pat/GBR.html
    List of diseases starting by R
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    37. Familial Dysautonomia, DNA Analysis
    Synonyms. rileyday syndrome; Jewish Heritage; IVS20+6T C; R696P. Specimen. Whole blood, amniotic fluid, or chorionic villus sample.
    http://www.labcorp.com/datasets/labcorp/html/chapter/mono/nf00001690.htm
    Familial Dysautonomia, DNA Analysis Number CPT Synonyms 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 and R696P mutations and frequencies among Ashkenazi Jews.

    38. Disease Directory : Neurological Disorders : Autonomic Nervous System : Familial
    AllRefer Health riley-day syndrome (Familial Dysautonomia AllRefer Health - riley-day syndrome Support Groups (Familial
    http://www.diseasedirectory.net/Neurological_Disorders/Autonomic_Nervous_System/
    Wednesday, June 02, 2004 Neurological Disorders Autonomic Nervous System
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    39. Riley-Day Syndrome - A Medical Reference Article
    rileyday syndrome. A Medical Medical Center. A resource with information on over 10,000 medical topics including riley-day syndrome.
    http://www.mcadd.net/dwp/006239.htm
    Riley-Day syndrome
    A Medical Article provided by University of Maryland Medical Center A resource with information on over 10,000 medical topics including: Riley-Day syndrome Previous Next

    40. PATENT ISSUED FOR NOVEL TREATMENT FOR FAMILIAL DYSAUTONOMIA (Riley-Day Syndrome)
    PATENT ISSUED FOR NOVEL TREATMENT FOR FAMILIAL DYSAUTONOMIA (rileyday syndrome). Added 12/15/2003 Type Summary Viewed 55 time(s) Not Rated Yet .
    http://www.health-informant.com/article79.html
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    Submit an Article Would you like to have your article posted? Click Here PATENT ISSUED FOR NOVEL TREATMENT FOR FAMILIAL DYSAUTONOMIA (Riley-Day Syndrome) Added: Type: Summary Viewed: 60 time(s) [ Not Rated Yet ] How would you rate this article: Bad Good Go » Printer Friendly Version PATENT ISSUED FOR NOVEL TREATMENT FOR FAMILIAL DYSAUTONOMIA (Riley-Day Syndrome) The patent was issued to Dr. Joan Fallon with offices in Yonkers, NY. Familal dysautonomia (FD) which is also known as Riley-day syndrome, is an autosomal recessive disease that affects approximately 1 in 4,000 individuals of Ashkenazi Jewish descent. This disorder is marked by a reduction of unmyelinated and small myelinated fibers as well as a reduction of dopamine-beta-hyrozylase in the blood. The United States Patent and Trademark Office (USPTO) has issued today Patent # 6,660,831 METHOD FOR DIAGNOSING AND TREATING DYSAUTONOMIA AND OTHER DYSAUTONOMIC CONDITIONS. The patent, which will remain in force until 2017, covers the use of the neuropeptide secretin for the treatment of symptoms associated with familial dysautonomia. The patent was issued to Dr. Joan Fallon with offices in Yonkers, NY.

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