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         Riley-day Syndrome:     more detail

1. MedlinePlus Medical Encyclopedia: Riley-Day Syndrome
rileyday syndrome is an inherited disorder that affects nerve function throughoutthe riley-day syndrome is inherited as an autosomal recessive trait,
http://www.nlm.nih.gov/medlineplus/ency/article/001387.htm
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Riley-Day syndrome
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Illustrations
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
  • poor growth feeding difficulties breath holding sweating while eating long episodes of vomiting lack of response to painful stimuli seizures hypotonia , low muscle tone recurring bouts of fever recurring bouts of high blood pressure poor coordination - unsteady gait an unusually smooth tongue surface decreased taste diarrhea/constipation severe scoliosis skin blotching
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.

2. 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.

3. MedlinePlus Medical Encyclopedia Riley-Day Syndrome
rileyday syndrome Contents of this page Illustrations. Alternative names. Definition. Causes, incidence, and risk factors. Symptoms
http://tmsyn.wc.ask.com/r?t=an&s=hb&uid=24312681243126812&sid=343126

4. Riley-Day Syndrome
a CHORUS notecard document about rileyday syndrome.
http://chorus.rad.mcw.edu/doc/00356.html
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Riley-Day syndrome
familial dysautonomia
  • autosomal recessive
  • seen in Jewish infants
  • malfunction of autonomic nervous system
  • possibly associated with catecholamine release + beta-NGF
  • hypersecretion of mucous glands
  • XR resembles cystic fibrosis
Charles E. Kahn, Jr., MD - 2 February 1995
Last updated 26 May 2004
Related CHORUS documents:
Chagas disease esophagus: scleroderma cystic fibrosis achalasia ... esophageal dysmotility
Search for related articles:
AJR American Journal of Roentgenology PubMed : index to biomedical literature ...

Medical College of Wisconsin

5. ? Riley-Day Syndrome
A medical encycopedia article on the topic riley-day syndrome
http://tmsyn.wc.ask.com/r?t=an&s=hb&uid=24312681243126812&sid=343126

6. Riley-Day Syndrome
rileyday syndrome. familial dysautonomia. autosomal recessive; seen in Jewishinfants. malfunction of autonomic nervous system; possibly associated with
http://chorus.rad.mcw.edu/to-go/00356.html
Riley-Day syndrome
familial dysautonomia
  • autosomal recessive
  • seen in Jewish infants
  • malfunction of autonomic nervous system
  • possibly associated with catecholamine release + beta-NGF
  • hypersecretion of mucous glands
  • XR resembles cystic fibrosis
Home Respiratory system

7. Riley-Day Syndrome
a CHORUS notecard document about rileyday syndrome
http://tmsyn.wc.ask.com/r?t=an&s=hb&uid=24312681243126812&sid=343126

8. AllRefer Health - Riley-Day Syndrome (Familial Dysautonomia, Hereditary Sensory
rileyday syndrome (Familial Dysautonomia, Hereditary Sensory and AutonomicNeuropathy - Type III) information center covers causes, prevention, symptoms,
http://health.allrefer.com/health/riley-day-syndrome-info.html

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Alternate Names : Familial Dysautonomia, Hereditary Sensory and Autonomic Neuropathy - Type III Definition Riley-Day syndrome is an inherited disorder that affects the function of nerves throughout the body.
Chromosomes and DNA 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.

9. Familial Dysautonomia Dysautonomia Foundation Home Page
Resources Links Tricks of the Trade Advocacy FD Day Meet Our Kids Ways to Give Meet FD Man Contact Us Public Relations
http://tmsyn.wc.ask.com/r?t=an&s=hb&uid=24312681243126812&sid=343126

10. Dr. Koop - Riley-Day Syndrome
rileyday syndrome is an inherited disorder that affects the function of nervesthroughout the body.
http://www.drkoop.com/ency/93/001387.html
Home Health Reference Riley-Day syndrome Jul 29, 2005 Search: Dr.Koop MEDLINE Diseases Symptoms Procedures Natural Medicine ... Drug Library
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Riley-Day syndrome
Injury Disease Nutrition Poison ... Prevention
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.

11. Dr. Koop - Riley-Day Syndrome
rileyday syndrome is an inherited disorder that affects the function of nerves throughout the body.
http://tmsyn.wc.ask.com/r?t=an&s=hb&uid=24312681243126812&sid=343126

12. ► Riley-Day Syndrome
A medical encycopedia article on the topic riley-day syndrome.
http://www.umm.edu/ency/article/001387.htm
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Riley-Day syndrome
Overview Symptoms Treatment Prevention Definition:
An inherited disorder that affects sensory and autonomic nerve function in many body parts/systems.
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 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

13. Disease - Riley-Day Syndrome - Detroit, Michigan
Disease riley-day syndrome - courtesy of Henry Ford Health System of Detroit, Michigan
http://tmsyn.wc.ask.com/r?t=an&s=hb&uid=24312681243126812&sid=343126

14. ► Riley-Day Syndrome
A medical encycopedia article on the topic riley-day syndrome.
http://www.umm.edu/ency/article/001387sym.htm
var MenuLinkedBy='AllWebMenus [2]', awmBN='530'; awmAltUrl=''; Disease Nutrition Surgery Symptoms Injury ... Z Maryland Medical Center Programs UM Hospital for Children
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Riley-Day syndrome
Overview Symptoms Treatment Prevention Alternative Names:
Familial dysautonomia; Hereditary sensory and autonomic neuropathy - type III
Symptoms:
  • a family history of Riley-Day syndrome Ashkenazi Jewish heritage feeding difficulties poor sucking and poor ability to swallow, drooling breath holding sweating while eating protracted episodes of vomiting lack of response to painful stimuli seizures hypotonia , low muscle tone abnormal body temperature (high or low) abnormally high blood pressure that is intermittent incoordination, unsteady gait an unusually smooth tongue surface (due to absence of fungiform papillae)

Signs and tests:
  • repeat aspiration pneumonia cyclic vomiting unsteady gait delayed puberty speech abnormalities corneal damage due to lack of tearing and blink reflex, gentle touching cornea with 'Q-Tip' won't produce a blink absent or decreased deep tendon reflexes insensitivity to pain normal intellect
Tests:
  • X-ray of the chest showing signs of recurrent aspiration pneumonia VMA - decreased HVA - elevated absence of flare response to histamine (Normally when histamine is injected just under the skin there will be swelling and redness. If there is a lack of this flair response or swelling/redness, the test is positive i.e., indicates Riley-Day syndrome.)

15. FD HOPE Home Page
Resource for families, researchers, and clinicians interested in FD. Also known as rileyday syndrome.
http://tmsyn.wc.ask.com/r?t=an&s=hb&uid=24312681243126812&sid=343126

16. Riley-Day Syndrome Medical Information
rileyday syndrome Information from Drugs.com. riley-day syndrome is aninherited disorder that affects nerve function throughout the body.
http://www.drugs.com/enc/riley_day_syndrome.html

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Riley-Day syndrome
Injury Disease Nutrition Poison ... Chromosomes and DNA
Riley-Day syndrome
Definition
Riley-Day syndrome is an inherited disorder that affects nerve function throughout the body. Symptoms are present at birth and grow worse over time.
Alternative Names
Familial dysautonomia; Hereditary sensory and autonomic neuropathy - type III
Causes
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.

17. Dysautonomia
Dysautonomia
http://tmsyn.wc.ask.com/r?t=an&s=hb&uid=24312681243126812&sid=343126

18. Riley Day Syndrome
Riley Day Syndrome (Familial Dysautonomia, Hereditary Sensory and AutonomicNeuropathy III). rileyday syndrome GENETIC DISEASE FAQ RDS Riley-Day
http://www.bdid.com/rileyday.htm

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19. EMedicine - Familial Dysautonomia Article By Robert A D'Amico, MD
Synonyms and related keywords rileyday syndrome, hereditary sensory and autonomic neuropathy type 3 AUTHOR INFORMATION Section 1 of 11
http://tmsyn.wc.ask.com/r?t=an&s=hb&uid=24312681243126812&sid=343126

20. RILEY-DAY SYNDROME (FAMILIAL DYSAUTONOMIA)
Features Listed For rileyday syndrome (FAMILIAL DYSAUTONOMIA) McKusick 223900. Absent or sparse tears Aseptic necrosis of epiphysis Ataxia
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