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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

81. Excretion Of Catecholamine Metabolites By Children With Familial Dysautonomia --
    Patients with familial dysautonomia were found to excrete elevated quantities of HVA, diminished quantities of VMA and HMPG, and normal amounts of TM and NM  
    http://pediatrics.aappublications.org/cgi/content/abstract/46/4/513
    
    Extractions: This Article P Rs: Submit a response Alert me when this article is cited Alert me when P ... Alert me if a correction is posted Services E-mail this article to a friend Similar articles in this journal Similar articles in PubMed Alert me to new issues of the journal ... Download to citation manager PubMed PubMed Citation Articles by Gitlow, S. E. Articles by Dziedzic, S. Pediatrics, Oct 1970, 513-522, Vol 46, No. 4 SE Gitlow, LM Bertani, E Wilk, BL Li and S Dziedzic Mount Sinai School of Medicine, Fifth Avenue and 100th Street, New York, New York 10029. ABSTRACT. Although a defect in catecholamine metabolism has been suggested in familial dysautonomia, the specific nature and extent of this abnormality has not been defined. Highly specific and sensitive assay techniques were used to measure the excretion of vanillylmandelic acid (VMA), 3-methoxy-4-hydroxyphenylethyleneglycol (HMPG), total metanephrines

82. Progressive Sensory Loss In Familial Dysautonomia -- Axelrod Et Al. 67 (4): 517
    familial dysautonomia is a hereditary disease with variable penetrance which Assessing function and pathology in familial dysautonomia assessment of  
    http://pediatrics.aappublications.org/cgi/content/abstract/67/4/517
    
    Extractions: This Article P Rs: Submit a response Alert me when this article is cited Alert me when P ... Alert me if a correction is posted Services E-mail this article to a friend Similar articles in this journal Similar articles in PubMed Alert me to new issues of the journal ... Cited by other online articles PubMed PubMed Citation Articles by Axelrod, F. B. Articles by Spielholz, N. FB Axelrod, K Iyer, I Fish, J Pearson, ME Sein and N Spielholz Clinical variability in sensory impairment was demonstrated among 75 patients with familial dysautonomia. Older patients had a greater tendency toward increased dysfunction in pain sensation, joint position and Romberg's sign, and vibratory sense. Significant worsening with increased age was supported by retesting of 53 patients after a five- year interval. Sensory and motor axon loss were indicated by electrodiagnostic testing of peripheral nerves and abnormal cortical somatosensory evoked potentials.

83. Familial Dysautonomia Hope Foundation, Inc. (FD Hope): National Institute Of Neu
    The National Institute of Neurological Disorders and Stroke (NINDS) is the leading supporter of biomedical research on disorders of the brain and nervous  
    http://www.ninds.nih.gov/find_people/voluntary_orgs/volorg705.htm
    
    Extractions: Description: Non-profit organization that works to expand and accelerate research towards a cure for familial dysautonomia and to improve the lives of children and adults challenged by the disease. Funds research programs, provides a support network for patients and families, and promotes education and awareness in the medical community and public.

84. Dysautonomia Information Page: National Institute Of Neurological Disorders And
    Synonym(s) Autonomic Dysfunction, familial dysautonomia, RileyDay Syndrome familial dysautonomia Hope Foundation, Inc. (FD Hope)  
    http://www.ninds.nih.gov/disorders/dysautonomia/dysautonomia.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?

85. Scientists Identify The Gene For Familial Dysautonomia, A Degenerative Neurologi
    Scientists identify the gene for familial dysautonomia, a degenerative gene causes familial dysautonomia by Susan Slaugenhaupt et al. and Familial  
    http://www.scienceblog.com/community/older/2001/D/200114338.html
    
    Extractions: From The American Journal of Human Genetics In the March issue of The American Journal of Human Genetics, two groups report that mutations in the IKBKAP gene, encoding the protein IKAP, cause Familial Dysautonomia (FD). Two single base pair mutations in this gene account for nearly 100% of FD cases, and this finding will revolutionize genetic testing for this devastating disorder. FD is almost exclusively found in people of Ashkenazi Jewish origin, and it is estimated that 1 out of every 32 people in this population carry an FD mutation. People with two mutant copies of the IKBKAP gene show poor development of and degeneration of the sensory and autonomic nervous systems. The symptoms in these affected individuals include: abnormal sweating, hypertension, difficulty feeding and sucking, gastrointestinal dysfunction, and insensitivity to pain. FD is fatal; only 50% of patients reach age 30 years. The major FD mutation, which accounts for 99.5% of disease chromosomes, results in aberrant splicing of the IKBKAP RNA and thus the loss of one of the coding regions for the IKAP protein. A second, much less common mutation was found to cause a single amino acid change in a putative regulatory region of the protein. Together, these mutations are believed to account for all of the Ashkenazi Jewish cases of FD. With this finding, genetic testing for FD will become very effective and much less expensive.

86. Familial Dysautonomia - Information And Support Resources
    familial dysautonomia Overview, Screening and Testing Information, Support Resouces.  
    http://www.mazornet.com/genetics/familial_dysautonomia.asp
    
    Extractions: Familial Dysautononmia (FD) Familial Dysautonomia (FD) is an inherited disorder, a rare genetic disease that results from the abnormal development of the nervous system, particularly the sensory and autonomic systems. The autonomic nervous system controls such involuntary functions such as swallowing, digestion, temperature and blood pressure regulation.

87. Riley-Day Syndrom/Familial Dysautonomia
    Subject RileyDay Syndrom/familial dysautonomia; From hadas_e@netvision.net.il (Hadas Eyal); Date Sat, 07 Sep 1996 003042 -0700  
    http://list.dysphagia.com/dysphagia/1996-September/msg00024.html
    
    Extractions: Date Prev Date Next [Chronological] [Thread] ... [Top] Hello everyone, This case involves a child who is chronologically 2 yrs old. Developmentally he is at about 12 months - a year delayed across the board. Nutrition and hydration is maintained by G-tube feedings. He does not take liquids P.O per physician's orders due to repeated aspirations and pneumonias. As characteristic of children with this syndrom, he rejects any food given to him orally - he won't take food into his mouth. He does mouth objects. When food is presented he has a stress response, morrow reflex/startle reflex, breaks into a sweat etc. Does anyone have any recommendations, tried and true, to desensitize this child and help him accept anything orally? Communication is limited. Thanks! Prev by Date: Riley-Day syndrome Next by Date: valsalva maneuver Index(es): Chronological Thread

88. Geneticalliance.org
    familial dysautonomia Also known as RileyDay syndrome Support Groups familial dysautonomia Hope Foundation 605 5th Avenue, NE Conover, NC 28613  
    http://www.geneticalliance.org/ws_display.asp?filter=support_groups_by_disease&t

89. Entrez PubMed
    The defective gene DYS, which is responsible for familial dysautonomia (FD) and has been mapped to a 0.5cM region on chromosome 9q31,  
    http://www.ncbi.nlm.nih.gov/entrez/query.fcgi?cmd=Retrieve&db=PubMed&list_uids=1

90. Familial Dysautonomia - General Practice Notebook
    familial dysautonomia is a rare syndrome caused by an inborn error of catecholamine metabolism. It is inherited in an autosomal recessive manner,  
    http://www.gpnotebook.co.uk/cache/-637140978.htm

91. Brain -- Sign In Page
    familial dysautonomia (FD; RileyDay syndrome) is an autosomal recessive familial dysautonomia is the most extensively described of a rare group of  
    http://brain.oxfordjournals.org/cgi/content/full/127/9/2090
    
    Extractions: This item requires a subscription* to Brain Online. * Please note that articles prior to 1996 are not normally available via a current subscription. In order to view content before this time, access to the Oxford Journals digital archive is required. Alternatively, you may purchase short-term access on a Pay per Article basis. Please see below for more details. This Article Abstract Full Text (PDF) Alert me when this article is cited ... Alert me if a correction is posted Services Email this article to a friend Similar articles in this journal Similar articles in ISI Web of Science Similar articles in PubMed ... Download to citation manager Search for citing articles in:

92. Assessing Function And Pathology In Familial Dysautonomia: Assessment Of Tempera
    Assessing function and pathology in familial dysautonomia assessment of temperature perception, sweating and cutaneous innervation  
    http://brain.oxfordjournals.org/cgi/content/abstract/127/9/2090

93. GOVERNOR PATAKI SIGNS BILL RECOGNIZING FAMILIAL DYSAUTONOMIA
    I am hopeful that the people who suffer from familial dysautonomia, a genetic disease primarily affecting a small number of Ashkenazi Jews, will now be in a  
    http://www.state.ny.us/governor/press/year02/july31_3_02.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."

94. Familial Dysautonomia
    Dr. Koop Riley-Day syndromefamilial dysautonomia; Hereditary sensory and autonomic neuropathy - type III. Causes, incidence, and risk factors. Riley-Day syndrome is inherited as an  
    http://www.bchealthguide.org/kbase/glossary/tv789/tv7892/def.htm
    
    Extractions: Familial dysautonomia Familial dysautonomia (FD) is a rare genetic disease caused by abnormal development of the nervous system. People with FD have problems feeling pain and heat, may have problems with balance and swallowing, and are unable to regulate their body temperature and blood pressure. Symptoms of FD include severe eye problems, feeding difficulties, and poor weight gain because of a weak suck reflex. Pneumonia may occur when uncoordinated swallowing allows breast milk or formula into the lungs. Other common symptoms include lack of coordination, inability to feel pain, excessive sweating, and developmental delays in speech and motor skills. Many children have stunted growth and curvature of the spine (scoliosis). FD is treated with surgery to help maintain nutrition and prevent pneumonia. Medications are used to control vomiting, eye dryness, and blood pressure. Author: Katy Magee, MA Last Updated May 30, 2003 Medical Review: Patrice Burgess, MD - Family Medicine

95. Genetic Disorders Forum - Familial Dysautonomia Information
    familial dysautonomia, familial dysautonomia Information, Genetic Disorders Forum , health forums, medical questions, medical information, medical symptoms,  
    http://ehealthforum.com/health/subject80_348594_what.html
    
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96. Riley-Day Syndrome
    familial dysautonomia. autosomal recessive; seen in Jewish infants. malfunction of autonomic nervous system; possibly associated with catecholamine release  
    http://chorus.rad.mcw.edu/doc/00356.html

97. Screening For Familial Dysautonomia Will Begin Soon -- Siegel-Itzkovich 322 (728
    Screening for familial dysautonomia will begin soon. Mass screening tests for familial dysautonomia, a degenerative and fatal neurological disorder that  
    http://bmj.bmjjournals.com/cgi/content/abridged/322/7282/319/a
    
    Extractions: Vol Page [Advanced] This article Extract Abridged PDF Full text Respond to this article ... Alert me when a correction is posted Services Email this article to a friend Find similar articles in BMJ Alert me to new issues of the journal Download to citation manager PubMed Articles by Siegel-Itzkovich, J. Related content Other Neurology Screening BMJ 2001;322:319 ( 10 February ) News roundup Mass screening tests for familial dysautonomia, a degenerative and fatal neurological disorder that affects only people of Ashkenazi Jewish origin, will begin soon in Israel and the United States. This development follows the Israeli and US discovery of the mutant recessive gene responsible for familial dysautonomia, which is as common as the better known Tay-Sachs disease, which also particularly affects Ashkenazi Jews. Two single base pair mutations in this gene account for nearly all cases of familial dysautonomia, and the finding is expected to revolutionise genetic

98. MedlinePlus Medical Encyclopedia: Riley-Day Syndrome
    familial dysautonomia; Hereditary sensory and autonomic neuropathy type III. Definition Return to top. Riley-Day syndrome is an inherited disorder that  
    http://www.nlm.nih.gov/medlineplus/ency/article/001387.htm
    
    Extractions: @import url(/medlineplus/images/advanced.css); 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 Riley-Day syndrome is an inherited disorder that affects nerve function throughout the body. Symptoms are present at birth and grow worse over time. Causes, incidence, and risk factors Return to top Riley-Day syndrome is inherited as an autosomal recessive trait, which means that a person must inherit a copy of the malfunctioning gene from each parent in order to develop the condition. It is seen most often in people of Eastern European Jewish ancestry (Ashkenazi Jews), where the incidence is 1 in 3,700. The disease is caused by mutation of the IKBKAP gene on chromosome 9. It is rare in the general population. Symptoms Return to top Infants with this condition have feeding problems and develop pneumonia caused by breathing 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.

99. NEJM -- Deficient Sympathetic Nervous Response In Familial Dysautonomia
    Ictal SPECT during autonomic crisis in familial dysautonomia. Highly abnormal thermotests in familial dysautonomia suggest increased cardiac autonomic  
    http://content.nejm.org/cgi/content/abstract/294/12/630
    
    Extractions: Add to Personal Archive Add to Citation Manager Notify a Friend E-mail When Cited ... PubMed 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.

100. Familial Dysautonomia, Eastern Carolina
     familial dysautonomia University Health Systems of Eastern Carolina serves tarboro, ahoskie, edento, winsor, maxhead, dear county, outebanks counties in  
     http://www.uhseast.com/142300.cfm
     
     Extractions: An extensive resource for information on illnesses, conditions, drugs, medical tests, and more. Familial dysautonomia (FD) is a rare genetic disease caused by abnormal development of the nervous system. People with FD have problems feeling pain and heat, may have problems with balance and swallowing, and are unable to regulate their body temperature and blood pressure. Symptoms of FD include severe eye problems, feeding difficulties, and poor weight gain because of a weak suck reflex. Pneumonia may occur when uncoordinated swallowing allows breast milk or formula into the lungs. Other common symptoms include lack of coordination, inability to feel pain, excessive sweating, and developmental delays in speech and motor skills. Many children have stunted growth and curvature of the spine (scoliosis). FD is treated with surgery to help maintain nutrition and prevent pneumonia. Medications are used to control vomiting, eye dryness, and blood pressure. Author Katy Magee, MA

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