1. FD HOPE Home Page Resource for families, researchers, and clinicians interested in FD. Also known as rileyday syndrome. http://www.fdvillage.org

HOME ABOUT FD ABOUT FD HOPE FAMILY RESOURCES ... FD HOPE! Familial Dysautonomia Hope Foundation New Hope for Familial Dysautonomia! In 2003, researchers at Fordham University's Laboratory for Familial Dysautonomia Research, Drs. Berish Rubin and Sylvia Anderson, reported that a variant of Vitamin E, tocotrienols, improves FD gene function. For some families, tocotrienols have been nothing short of a miracle: ending crisis, causing the return of tears, and improving stamina. Only months later, Rubin and Anderson announced the discovery that EGCG, a compound found in green tea, increases the ratio of normal to abnormal gene expression. The combination of EGCG and tocotrienols has the potential of dramatically increasing the amount of normal IKAP protein, positively affecting the progression of Familial Dysautonomia. Read more in What's New Click here for Dr. Rubin's summary of his presentation.

2. More About FD A description of familial dysautonomia with a look at he clinical symptoms, diagnosis, genetics and genetic testing, and prevention and treatment. http://www.med.nyu.edu/fd/fdcenter.html

Skip Over Navigation e-mail page print page NYUMC home ... Contact Us More About FD What is FD? Familial dysautonomia [FD] is one example of a group of disorders known as hereditary sensory and autonomic neuropathies [HSAN]. All HSAN are characterized by widespread sensory dysfunction and variable autonomic dysfunction caused by incomplete development of sensory and autonomic neurons. The disorders are believed to be genetically distinct from each other. Unlike the other HSAN, FD has been noted only in individuals of Ashkenazi Jewish extraction and so it is included as one of the Jewish genetic diseases. Symptoms of FD. The most distinctive clinical feature is absence of overflow tears with emotional crying although it can be normal for a child not to have tearing until 7 months of age. Other signs of the disorder can be present from birth such as a high prevalence of breech presentation, weak or absent suck and poor tone. Difficulty feeding is observed in 60% of infants in the neonatal period. Poor suck and misdirected swallows often persist and put the patient at risk for aspiration pneumonia, the major cause of lung infections. If gastroesophageal reflux is present, the risk for aspiration increases. Approximately 40% of patients will react to stress (infection or emotional events) with a constellation of symptoms termed the dysautonomia crisis. In addition to vomiting, there is frequently increased heart rate and blood pressure, sweating, and a negative change in personality.

3. Familial Dysautonomia -- Dysautonomia Foundation Home Page familial dysautonomia, press releases, information on summer camps for kids and adults, details about the organization and FD itself. http://www.familialdysautonomia.org/

What is Familial Dysautonomia? About the Foundation ... Brochure Dysautonomia Foundation, Inc. A non-profit organization supporting medical research and treatment for those afflicted with Familial Dysautonomia What's New Genetic Testing Save The Date Donations New Address 315 West 39th Street, Suite 701 New York, NY 10018 Phone: 212-279-1066 Email: info@familialdysautonomia.org Upcoming Event Links: 2nd Annual FD Cycle Tour Tour De Foliage Pleasantville, NY October 9th Climb For FD August 2005 Ironman Triathlon Ron Jacobs Sept. 2005 Chicago Marathon Dee Dee Gealer Oct. 2005 Please Support the Foundation Donate Online! Familial Dysautonomia - pronounced "dysauto-NO-mia" - is a genetic disease present at birth, primarily causing dysfunction of the autonomic and sensory nervous systems. The Dysautonomia Foundation Inc. is a non-profit organization founded in 1951 by the parents of afflicted children.

4. NORD - National Organization For Rare Disorders, Inc. Offers synonyms, a general discussion and further resources. http://www.rarediseases.org/search/rdbdetail_abstract.html?disname=Dysautonomia,

5. FAMILIAL DYSAUTONOMIA: Contact A Family - For Families With Disabled Children: I An article about familial dysautonomia and its inheritance patterns. Also information about a support group for those living in the UK. http://www.cafamily.org.uk/Direct/f17.html

printer friendly FAMILIAL DYSAUTONOMIA home how we can help medical information index of conditions ... how you can help Did you find this page helpful? yes no Familial Dysautonomia (FD) is one example of a group of disorders known as hereditary sensory and autonomic neuropathies (HSAN). The various HSAN disorders are believed to be genetically distinct from each other. Unlike other HSAN, Familial Dysautonomia has been only noted in individuals of Ashkenazi Jewish extraction causing dysfunction of the autonomic and sensory nervous systems. Dysfunction is a result of an incomplete development of the neurons (nerve fibres) of these systems. For information on Riley-Day syndrome and related dysautonomias see Metabolic diseases The most distinctive feature of FD is the absence of overflow tears with emotional crying although it can be normal for a child not to produce tears until 7 months of age. In babies with FD there is a high prevalence of breech presentation births and poor muscle tone (floppy babies). Other features include: a weak or absent suck.

6. Familial Dysautonomia Dysautonomia Foundation Home Page familial dysautonomia, press releases, information on summer camps for kids and adults, details about the organization and FD itself. http://tmsyn.wc.ask.com/r?t=an&s=hb&uid=24312681243126812&sid=343126

7. Dysautonomia Treatment And Evaluation Center Get more information about familial dysautonomia here. more information on discovery of the FD gene; more information about clinical symptoms, genetics, http://www.med.nyu.edu/fd/

Skip Over Navigation e-mail page print page NYUMC home ... Contact Us Dysautonomia Treatment and Evaluation Center The Dysautonomia Treatment and Evaluation Center is recognized as an international Center of Excellence for familial dysautonomia (FD) and other genetic disorders affecting sensory and autonomic function. The Center was established at NYU Medical Center in 1969 to provide care to individuals affected with familial dysautonomia (FD). FD is a genetic disorder that affects the development and survival of sensory and autonomic nerve cells. Affected individuals have difficulty with involuntary actions such as swallowing, breathing, production of tears, and the regulation of blood pressure and body temperature. They also have problems with some sensory functions such as taste and the perception of pain, heat, and cold. Familial dysautonomia is also called hereditary sensory and autonomic neuropathy (HSAN), type III. This is the only Center for FD in the United States and thus serves as a resource for patients and physicians worldwide in assessing and treating FD. In addition, expertise has been developed in assessment of other sensory and autonomic disorders so that the Center is now a referral center for other hereditary sensory and autonomic neuropathies (HSAN) and for other pediatric disorders with autonomic dysfunction.

8. Familial Dysautonomia Dysautonomia Foundation The following page contains information about the Ashkenazi Jewish genetic disease called familial dysautonomia (FD). We offer answers to many http://tmsyn.wc.ask.com/r?t=an&s=hb&uid=24312681243126812&sid=343126

9. Tests And Indications Information about a test for seven common inherited diseases in the Ashkenazi Jewish population TaySachs disease, Canavan disease, cystic fibrosis, Gaucher disease, Bloom syndrome, familial dysautonomia and Fanconi anemia. http://cfar-www.med.nyu.edu/genetics/lab/ashkenazi_screen.html

NYU Medical Center Home NYU School of Medicine Home Research Home Administration ... Calendars Tests and Indications Cystic Fibrosis Cystic fibrosis is the most common genetic disorder among Caucasians (1:29) and is less common among other ethnic groups (see table below). The American College of Medical Genetics (ACMG) recommends that CF screening be offered to couples considering starting a family and recommends the mutation panel listed below for all ethnicities. The detection rate differs with ethnic origin and is shown along with after testing residual risk estimates in the table below. Mutations Analyzed: 621+1G->T 1717-1G->A 711+1G->T 1898+1G->A 3849+10kbC->T 2789+5G->A 3120+1G->A This test distinguishes the F508C, I507V, and I506V polymorphisms and the poly T allele is reported where clinically significant. Sensitivity and Estimated Carrier Risk: Estimated Carrier Risk Ethnic Group Detection Rate Before Test After Test Ashkenazi Jewish ~1 in 930 European Caucasian ~1 in 140 African American ~1 in 207 Hispanic American ~1 in 105 Asian American ND ND Ashkenazi Jewish Genetic Disease Screening A video entitled: "The Importance of Genetic Screening for Ashkenazi Jewish People" is available on our website and may be shared with your patients.

10. FD Description A description of familial dysautonomia with a look at he clinical symptoms, diagnosis, genetics and genetic testing, and prevention and treatment. http://tmsyn.wc.ask.com/r?t=an&s=hb&uid=24312681243126812&sid=343126

11. Familial Dysautonomia -- Dysautonomia Foundation What is familial dysautonomia (FD)? familial dysautonomia pronounced dysauto-NO-mia - is a genetic disease present at birth in male and female Jewish http://www.familialdysautonomia.org/whatisfd.htm

Dysautonomia Foundation, Inc What is Familial Dysautonomia? The following page contains information about the Ashkenazi Jewish genetic disease called Familial Dysautonomia (FD). We offer answers to many frequently asked questions, such as: What is FD? What are the symptoms? How is a diagnosis confirmed? and, Is a genetic test available? This Page Includes: What is Familial Dysautonomia? What are the Symptoms? How is FD Inherited? How is FD Diagnosed? ... Is There a Genetic Test for FD? What is Familial Dysautonomia (FD)? Familial Dysautonomia - pronounced "dysauto-NO-mia" - is a genetic disease present at birth in male and female Jewish babies, primarily causing dysfunction of the autonomic and sensory nervous systems. Dysfunction is a result of an incomplete development of the neurons (nerve fibers) of these systems. The autonomic nervous system controls bodily functions that are often taken for granted such as: Overflow tears when we cry Breathing when there isn’t enough oxygen Regulation of blood pressure and body temperatures Normal swallowing and digestion Safe responses to stress The sensory nervous system regulates: Protective reactions to pain Perceptions of hot and cold Taste The prognosis of the disease depends on early detection, severity of symptoms, and the individual response to therapeutic treatment for this disorder. Supportive treatment can enhance quality of life and promote better survival.

12. Dysautonomia Treatment And Evaluation Center Be sure to visit the American Autonomic Society Website Get more information about familial dysautonomia here http://tmsyn.wc.ask.com/r?t=an&s=hb&uid=24312681243126812&sid=343126

13. EMedicine - Familial Dysautonomia Article By Robert A D'Amico, MD familial dysautonomia familial dysautonomia (FD) is an inherited disorder of the nervous system that affects the development and survival of http://tmsyn.wc.ask.com/r?t=an&s=hb&uid=24312681243126812&sid=343126

14. About FD About familial dysautonomia. Symptoms of familial dysautonomia. familial dysautonomia (FD) is a progressive and fatal neurological disorder that affects the http://www.fdvillage.org/aboutfd.htm

HOME ABOUT FD ABOUT FD HOPE FAMILY RESOURCES ... Site Map About Familial Dysautonomia Symptoms of Familial Dysautonomia 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. Click here to learn more about the symptoms of FD. Genetics of Familial Dysautonomia 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. Click here to learn more about the genetics of FD.

15. Parents' Needed For 'orphan' Diseases Gaucher's disease (which is already treatable) and stillincurable ones such as Tay-Sachs, familial dysautonomia, Canavan's disease and Neiman http://tmsyn.wc.ask.com/r?t=an&s=hb&uid=24312681243126812&sid=343126

16. Familial Dysautonomia - Genetics Home Reference Where can I find additional information about familial dysautonomia? What other names do people use for familial dysautonomia? What if I still have specific http://ghr.nlm.nih.gov/condition=familialdysautonomia

Home What's New Browse Handbook ... Search Familial dysautonomia Related Gene(s) Quick links to this topic NIH Publications National Institutes of Health MedlinePlus Health Information Educational resources Information pages Patient support For patients and families Gene Reviews Clinical summary Gene Tests DNA test labs PubMed Recent literature OMIM Genetic disorder catalog References Familial dysautonomia On this page: What is familial dysautonomia? How common is familial dysautonomia? ... help with understanding familial dysautonomia? What is familial dysautonomia? Familial dysautonomia is a genetic disorder that affects the development and survival of certain nerve cells. The disorder disturbs cells in the autonomic nervous system, which controls involuntary actions such as digestion, breathing, production of tears, and the regulation of blood pressure and body temperature. It also affects the sensory nervous system, which controls activities related to the senses, such as taste and the perception of pain, heat, and cold. Familial dysautonomia is also called hereditary sensory and autonomic neuropathy, type III. Problems related to this disorder first appear during infancy. Early signs and symptoms include poor muscle tone (hypotonia), feeding difficulties, lack of tears, and difficulty maintaining body temperature. Developmental milestones, such as walking and speech, are usually delayed. Characteristic symptoms in older children and adults include poor balance, curvature of the spine (scoliosis), episodes of vomiting, frequent lung infections, reduced sensitivity to pain and temperature changes, abnormal sense of taste, poor regulation of blood pressure, and heart problems.

17. Familial Dysautonomia A definition of familial dysautonomia, its inheritance patterns and symptoms. http://www.mazornet.com/genetics/familial_dysautonomia.htm

18. Familial Dysautonomia Village Donate Securely Online Shop and Benefit FD HOPE! familial dysautonomia Hope Foundation New Hope for familial dysautonomia! http://tmsyn.wc.ask.com/r?t=an&s=hb&uid=24312681243126812&sid=343126

19. Familial Dysautonomia - Educational Resources - Information Pages - Genetics Hom familial dysautonomia. Back to condition summary supplement the information in the Genetics Home Reference condition summary on familial dysautonomia. http://ghr.nlm.nih.gov/condition=familialdysautonomia/show/Educational resources

Home What's New Browse Handbook ... Search Familial dysautonomia Back to condition summary Familial dysautonomia Educational resources - Information pages These resources supplement the information in the Genetics Home Reference condition summary on familial dysautonomia. Chicago Center for Jewish Genetic Disorders Madisons Foundation ... Orphanet Last Comprehensive Review: April 2005 Published: September 6, 2005 Contact NLM Customer Service Lister Hill National Center for Biomedical Communications ... Selection Criteria for Web Links Indicates a page outside Genetics Home Reference.

20. Scientists Identify The Gene For Familial Dysautonomia, A Degenerative Neurologi Scientists identify the gene for familial dysautonomia, a degenerative neurological disorder. http://www.eurekalert.org/pub_releases/2001-01/TAJo-Sitg-1001101.php

Public release date: 10-Jan-2001 E-mail Article Contact: Kate Beauregard kbeaure@emory.edu The American Journal of Human Genetics Scientists identify the gene for familial dysautonomia, a degenerative neurological disorder 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.

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