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Familial Dysautonomia:     more detail

One Brief Shining Moment by Arlene C. Swirsky, 2001-02-04 Familial Dysautonomia - A Bibliography and Dictionary for Physicians, Patients, and Genome Researchers by Philip M. Parker, 2007-07-16 Familial Dysautonomia Medical Guide by Qontro Medical Guides, 2008-07-09 No tears: Living with familial dysautonomia by Shirley Young Arnstein, 2000 Resilience personified: Andrew's story. (The Big Question).(familial dysautonomia): An article from: Association Management by Kenneth M. Slaw, 2002-12-01 Familial dysautonomia: An entry from Thomson Gale's <i>Gale Encyclopedia of Genetic Disorders, 2nd ed.</i> by Marianne, MT (ASCP), MPH O'Connor, 2005 Caring for the child with familial dysautonomia: (a treatment manual) by Felicia B Axelrod, 1982 Living with a child with familial dysautonomia by Conrad M Riley, 1956 Caring for the child with familial dysautonomia: (a handbook for parents) by Felicia B Axelord, 1975

lists with details

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

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

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
    
    Extractions: 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
    
    Extractions: Skip navigation Other encyclopedia topics: A-Ag Ah-Ap Aq-Az B-Bk ... Z Contents of this page: 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
    
    Extractions: 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

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
    
    Extractions: 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. 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).

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
    
    Extractions: 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
    
    Extractions: 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
    
    Extractions: 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.

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
    
    Extractions: 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

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

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

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