Geometry.Net - Health_Conditions: Familial Dysautonomia


Home - Health_Conditions - Familial Dysautonomia

e99.com Bookstore

Images

Newsgroups

1-20 of 93 1 | 2 | 3 | 4 | 5 | Next 20

A B C D E F G H I J K L M N O P Q R S T U V W X Y Z

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

Familial Dysautonomia Village
Resource for families, researchers, and clinicians interested in FD. Also known as rileyday syndrome.
http://www.fdvillage.org

Extractions: Familial Dysautonomia Village is the official website for Familial Dysautonomia Hope Foundation (FD Hope), founded in early 2001 by several families with children with familial dysautonomia. FD Hope is a public, tax-exempt, nonprofit organization pursuant to Section 501(c)(3) of the Internal Revenue Code, and all gifts and donations to FD Hope are tax deductible. FD Hope was formed to expand and accelerate top-rate scientific research aimed at finding a cure and improving the lives of the children and adults with familial dysautonomia. Our mission is to find a cure for familial dysautonomia by funding relevant research programs, to provide a support network aimed at addressing the needs of patients and families, and to promote familial dysautonomia education and awareness programs in the medical community and the public. NIH SPONSORS CONFERENCE ON FAMILIAL DYSAUTONOMIA
FD Home Page
. familial dysautonomia FD is one example of a group of disordersknown as hereditary sensory and autonomic neuropathies HSAN. Description A description of familial dysautonomia with a look at he clinical symptoms, diagnosis, genetics and Category Health Conditions and Diseases familial dysautonomia
http://www.med.nyu.edu/fd/fdcenter.html

Extractions: Description 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. Individuals affected with FD are incapable of producing overflow tears with emotional crying. Frequent manifestations of FD include inappropriate perception of heat, pain, and taste, as well as, labile blood pressures and gastrointestinal dysmotility. Other problems experienced by individuals with FD include excessive sweating, dysphagia and vomiting, aspiration and frequent pneumonia, speech and motor incoordination, labile blood pressures (episodic hypertension and postural hypotension), poor growth and scoliosis. Yet affected individuals usually are of normal intelligence. FD patients can be expected to function independently if treatment is begun early and major disabilities avoided.
Familial Dysautonomia -- Dysautonomia Foundation Home Page
familial dysautonomia, press releases, information on summer camps for kids and adults, details about Category Health Conditions and Diseases familial dysautonomiafamilial dysautonomia is a genetic disorder that affects the autonomic and sensorynervous systems, primarily among Ashkenazi or Eastern European Jews.
http://www.familialdysautonomia.org/

Extractions: PubMed Listings For FD Great Gifts: FD Art Ashki, The FD Teddy Bear Gift Baskets The information provided in this Web site is intended to educate the reader about certain medical conditions and certain possible treatments. It is not a substitute for examination, diagnosis, and medical care provided by a licensed and qualified health professional. If you believe you, or your child, or someone you know, suffer from the conditions described herein, please see your health care provider. Do not attempt to treat yourself, your child, or anyone else without proper medical supervision. The Foundation provides linked sites only for the convenience of the visitor. The Foundation does not control nor does it warrant the accuracy of any information provided by these linked sites. Individually identifiable user information is not collected through this site unless voluntarily submitted to the Foundation by the user. Linked sites may have different privacy policies. Any User information submitted directly to the Foundation will not be shared with other parties without the express written consent of the User.
The Contact A Family Directory - FAMILIAL DYSAUTONOMIA
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

Extractions: printer friendly FAMILIAL DYSAUTONOMIA home more about us in your area conditions information ... how you can help search this site 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.
Center For Jewish Genetic Disorders | Familial Dysautonomia
Information about familial dysautonomia and other genetic disorders which are unusually common in Jews of eastern European descent, including symptoms, inheritance, diagnosis, carrier testing, and links to other related sites. Additional Information Dysautonomia Foundation, Inc. 633 Third Avenue, 12th Floor
http://www.jewishgenetics.org/famdys.htm

Extractions: This is a disorder which affects functions of the body such as swallowing, temperature regulation, sensitivity to heat and pain, and tearing of the eyes. This condition is seen almost exclusively in Ashkenazi Jews Like most of the Jewish genetic disorders, this diseas e is inherited in a recessive fashion. There currently is no cure for FD but some treatments are available which can improve the length and quality of life. Disease frequency: 1/3,800 in Jewish population Carrier frequency: approximately 1 in 30 in those of Jewish ancestry Diagnosis: Made by physician knowledgeable of symptoms of FD. Inheritance: Autosomal Recessive Carrier testing: At this time, available only to those with a family history. No testing for general population. Prenatal diagnosis: Available only to couples who have had a previously affected child.
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

Extractions: 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.
NYU School Of Medicine - Dysautonomia Treatment & Evaluation Center
NYU School of Medicine Department of Pediatrics and Department of Neurology offers genetic information Category Health Conditions and Diseases familial dysautonomiaBe sure to visit the American Autonomic Society Website. Visit the FamilialDysautonomia site for more information on discovery of the FD gene,
http://www.med.nyu.edu/fd/

Extractions: Staff and location How to obtain services Patient care Research The Dysautonomia Treatment and Evaluation Center was established at NYU Medical Center in 1969 to provide care to individuals affected with the genetic disorder familial dysautonomia (FD). This patient group is a genetically homogeneous population with consistent neuropathologic lesions involving the sympathetic nervous system and unmyelinated sensory fibers. 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 which has led to numerous referrals of other pediatric disorders with autonomic dysfunction and other congenital sensory neuropathies. Be sure to visit the American Autonomic Society Website Visit the Familial Dysautonomia site for: more information on discovery of the FD gene more information about clinicial symptoms, genetics, progress in research
NORD - Familial Dysautonomia
Offers synonyms, a general discussion and further resources.
http://www.stepstn.com/cgi-win/nord.exe?proc=GetDocument&rectype=0&recnu
Molecular Genetics Testing Laboratory
The Ashkenazi Jewish Genetic Disease Screen tests 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. Among Ashkenazi Jews, the carrier frequencies and disease incidences for Cystic Fibrosis is 13600. The Molecular Genetics Laboratory performs multiplex assays to screen for all seven diseases in individuals at risk.
http://www.med.nyu.edu/genetics/ashkenazi.html

Extractions: See the video: Genetic Screening Video real player needed The Ashkenazi Jewish Genetic Disease Screen tests for seven common inherited diseases in the Ashkenazi Jewish population: Tay-Sachs disease, Canavan disease, cystic fibrosis, Gaucher disease, Bloom syndrome , Familial dysautonomia and Fanconi anemia. Among Ashkenazi Jews, the carrier frequencies and disease incidences for each of these has been estimated to be 1:25 and 1:3000 for Tay-Sachs disease; 1:30 and 1:3600 for cystic fibrosis; 1:40 and 1:6400 for Canavan disease; 1:15 and 1:900 for Gaucher disease 1:100 and 1:10,000 for Bloom syndrome , 1:30 and 1:3600 for Familial dysautonomia and 1:80 and 1:6,400 for Fanconi anemia. The Molecular Genetics Laboratory performs multiplex assays to screen for all seven diseases in individuals at risk. NOTE: This screen is most appropriate for people who are Ashkenazi Jews. This screen is not appropriate for individuals from other ethnic backgrounds. Those individuals should use other testing approaches to assess their carrier risk for these diseases. Contact the laboratory to determine appropriate testing for individuals of mixed heritage.
Orthotic Management Of Scoliosis In Familial Dysautonomia - Journal Of Prostheti
orthosis, scoliosis, familial dysautonomia. Introduction. familial dysautonomia, a rare autosomal recessive disorder
http://www.oandp.org/jpo/63/6374.htm

Extractions: David B. Levine, MD The orthotic management of Familial Dysautonomia presents many challenges to the clinic team. The clinical manifestations of this disorder are many and cause accepted orthotic management regimes to be modified. This article presents the characteristics of this disorder as well as the orthotic management of the condition as prescribed at the Hospital for Special Surgery Familial Dysautonomia Clinic. Modifications to the standard TLSO and CTLSO designs that have shown promise will be detailed. Disorders accompanied by similar clinical features also may benefit from the orthotic changes described. Key words : orthosis, scoliosis, Familial Dysautonomia Familial Dysautonomia, a rare autosomal recessive disorder (1) first described by Riley and Day in 1949 (2), is the most extensively described congenital sensory neuropathy (3). The disorder reduces the number of nerve cells destined to control certain sensations and autonomic functions (4). Studies suggest as few as 1 in 50 to as many as 1 in 30 Jews of Ashkenazi origin are possible carriers of the recessive gene (3,4). To date, as many as 500 cases of Familial Dysautonomia have been diagnosed around the world (5).
What Is Familial Dysautonomia
What is familial dysautonomia? FD, or familial dysautonomia pronounceddysautoNO-mia is a genetic disease present at
http://www.familialdysautonomia.org/brochure.htm

Extractions: What is Familial Dysautonomia? FD, or 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. The autonomic nervous system controls bodily functions which are often taken for granted such as: Children with FD may drink fluids and be unaware that abnormal swallowing is misdirecting the fluid into the lungs, rather than the stomach, causing lung problems. Sensory abilities are needed to protect the body from injury to assure prompt recognition, so that proper treatment can be given. Physical Symptoms Children with FD often do not feel pain and may break a bone, or burn themselves, without any awareness of the injury. Crying without tears is one of the most striking symptoms of FD.
Familial Dysautonomia - Information And Support Resources
familial dysautonomia Overview, Screening and Testing Information, SupportResouces. , familial dysautonomia. ?, Familial Mediterranean Fever.
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.
Familial Dysautonomia
familial dysautonomia. Comments. Please highlight the fact that 1 in30 Ashkenazi Jews carry the mutation for familial dysautonomia.
http://www.mazornet.com/genetics/_genetics1/00000003.htm

Extractions: Remote Name: Please highlight the fact that 1 in 30 Ashkenazi Jews carry the mutation for familial dysautonomia. This is as common as Tay-Sachs, yet so few of us know about it. General population screening is not yet available in the US (you can determine carrier status if you are a relative or the spouse of a relative of someone with FD), but it should be available soon. Watch for it! Check out www.fdvillage.org for more information about this unfortunate disorder and on how you can help. Thanks! Last changed: July 18, 2002
Familial Dysautonomia
A definition of familial dysautonomia, its inheritance patterns and symptoms.
http://www.mazornet.com/genetics/familial_dysautonomia.htm
Gene For Familial Dysautonomia Discovered
Massachusetts General Hospital researchers have located the gene that causes familialdysautonomia (FD), a neurodegenerative disease that mainly targets
http://www.researchmatters.harvard.edu/story.php?article_id=216
Orthotic Management Of Scoliosis In Familial Dysautonomia - Journal Of Prostheti
Article Text. Figures. References. Send Link. Send HTML Article. Orthotic Managementof Scoliosis in familial dysautonomia. Characteristics of familial dysautonomia.
http://www.oandp.org/jpo/library/1994_03_074.asp

Extractions: David B. Levine, MD The orthotic management of Familial Dysautonomia presents many challenges to the clinic team. The clinical manifestations of this disorder are many and cause accepted orthotic management regimes to be modified. This article presents the characteristics of this disorder as well as the orthotic management of the condition as prescribed at the Hospital for Special Surgery Familial Dysautonomia Clinic. Modifications to the standard TLSO and CTLSO designs that have shown promise will be detailed. Disorders accompanied by similar clinical features also may benefit from the orthotic changes described. Key words : orthosis, scoliosis, Familial Dysautonomia Familial Dysautonomia, a rare autosomal recessive disorder (1) first described by Riley and Day in 1949 (2), is the most extensively described congenital sensory neuropathy (3). The disorder reduces the number of nerve cells destined to control certain sensations and autonomic functions (4). Studies suggest as few as 1 in 50 to as many as 1 in 30 Jews of Ashkenazi origin are possible carriers of the recessive gene (3,4). To date, as many as 500 cases of Familial Dysautonomia have been diagnosed around the world (5).
EMedicine - Familial Dysautonomia : Article By Robert A D'Amico, MD
familial dysautonomia familial dysautonomia (FD) is an inherited disorder of thenervous system that affects the development and survival of autonomic and
http://www.emedicine.com/oph/topic678.htm

Extractions: (advertisement) Home Specialties CME PDA ... Patient Education Articles Images CME Patient Education Advanced Search Link to this site Back to: eMedicine Specialties Ophthalmology Genetic Disorders Last Updated: September 19, 2002 Rate this Article Email to a Colleague Synonyms and related keywords: Riley-Day syndrome, hereditary sensory and autonomic neuropathy type 3 AUTHOR INFORMATION Section 1 of 11 Author Information Introduction Clinical Differentials ... Bibliography Author: Robert A D'Amico, MD , Chairman, Department of Ophthalmology, St Vincent's Hospital and Medical Center; Clinical Professor, Department of Ophthalmology, New York University School of Medicine Coauthor(s): Felicia B Axelrod, MD , Director of Dysautonomia Treatment and Evaluation Center, Carl Seaman Family Professor, Departments of Pediatrics and Neurology, New York University School of Medicine Robert A D'Amico, MD, is a member of the following medical societies: American Academy of Ophthalmology American Medical Association , and Association for Research in Vision and Ophthalmology Editor(s): Andrew Lawton, MD
GOVERNOR PATAKI SIGNS BILL RECOGNIZING FAMILIAL DYSAUTONOMIA
GOVERNOR PATAKI SIGNS BILL RECOGNIZING familial dysautonomia. ImportantNew Law Will Make it Easier for Afflicted Families to Receive Services.
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."
Advanced Respiratory - Airway Clearance Indications Of Familial Dysautonomia
Airway Clearance Indications of familial dysautonomia, Print Version. Familialdysautonomia is an inherited dysfunction of the autonomic nervous system.
http://www.thevest.com/conditions/factsheets/familialdys.asp?gs=patients
FAMILIAL DYSAUTONOMIA
familial dysautonomia A congenital syndrome with autosomal recessive inheritancecharacterized by abnormalities of the autonomic nervous system.
http://www.medhelp.org/glossary2/new/GLS_2000.HTM

Extractions: FAMILIAL DYSAUTONOMIA - A congenital syndrome with autosomal recessive inheritance characterized by abnormalities of the autonomic nervous system . Features include: indifference to pain, diminished tearing, poor vasomotor control, motor incoordination, labile cardiovascular reactions, decreased reflexes, frequent attacks of pneumonia , increased salivation with aspiration , difficulty in swallowing, increased vomiting , emotional instability, and an intolerance for anesthetic medications.

A B C D E F G H I J K L M N O P Q R S T U V W X Y Z

1-20 of 93 1 | 2 | 3 | 4 | 5 | Next 20