81. Research - Rett Syndrome Association UK The rett syndrome Association UK funds research, and gives help, advice, Jeans for Genes’ monies will help the rett syndrome Association to fund two http://www.jeansforgenes.com/2_about/2085_aboutrett.php

What is Jeans for Genes? About the Charities Why Support Us Personal Stories ... Site Map Rett Syndrome Association UK What does the Rett Syndrome Association UK do? How will Jeans for Genes donations help? Visit www.muscular-dystrophy.org The other charities involved Where the funds are going Quick Links Badge and Wristband Outlets Tell us what YOU are doing! ... Nine national charities working together to help sick children Hannah, aged 9, has Rett syndrome. Read Hannah's story Back Subscribe here! Home ... TMB UK Ltd

82. RettFAQ rett syndrome is a neurodevelopmental disorder affecting one in 10000 females. The defective MECP2 leads to development of rett syndrome, http://www.bcm.edu/pa/rettfaq.htm

RS Discovery RS Fact Sheet Zoghbi Bio Fact Sheet: Rett Syndrome What is Rett Syndrome? Rett syndrome is a neurodevelopmental disorder affecting one in 10,000 females. When was it discovered? Dr. Andreas Rett, an Austrian pediatric neurologist, first identified the disorder in 1966. What causes Rett Syndrome? A defect in the MECP2 gene on the X chromosome, as discovered by Dr. Huda Y. Zoghbi and colleagues of the Howard Hughes Medical Institute at Houston's Baylor College of Medicine. Why don't males have Rett Syndrome? Unlike females, who have two X chromosomes, males have an X and a Y chromosome. Because males lack a "back-up" copy of the X chromosome that can compensate for a defective one, mutations in MECP2 are lethal to the male fetus. One thought is that males carrying a mutation in the RS gene never develop normally and miscarry early - maybe so early that there is never recognized pregnancy. That's why Rett syndrome is found in females only. Girls with a mutated MECP2 on one X chromosome are able to survive if they have a normal MECP2 gene on the other X chromosome. But because the two X chromosomes are activated randomly, girls might have the normal MECP2 gene active in some cells and the defective copy active in other cells. The defective MECP2 leads to development of Rett syndrome, and the severity of the disorder depends on the percentage of defective MECP2 genes that are active.

83. What Is Rett Syndrome This site contains valuable information about autism. http://www.mamashealth.com/mental/rett.asp

Mamashealth.com Home Mental Health Section ADHD ADHD Treatments Antisocial Personality Anxiety ... Treatment Strategies Links Email Mama Paxil Serzone Zoloft ... Zyprexa What is Rett Syndrome? Rett syndrome is an inherited disorder that affects only females. It causes mental retardation and developmental degeneration. Rett Syndrome can occur in males, but is usually lethal, causing miscarriage, stillbirth or early death. Rett Syndrome is most often misdiagnosed as autism, cerebral palsy or non-specific developmental delay. It is often misdiagnosed because a lot of health professionals are not familiar with it. What Causes Rett Syndrome? Rett Syndrome occurs when the there are mutations on the X gene. Females have two X chromosomes. The mutations in the X chromosome causes damage in the maturing brain. The severity of the rett syndrome varies. Severity of rett syndrome is linked to specific types of mutation. Symptoms of Rett Syndrome? Some of the most common symptoms are: Normal development during first months of infancy Floppy extremities Slow head growth Language development, both expressed and understood, is severely impaired

84. Rett Syndrome rett syndrome is a rare neurodevelopmental disorder that appears to occur almost exclusively in females http://my.webmd.com/hw/health_guide_atoz/nord182.asp

var guid_source = ""; var guid_source_id = ""; //unused var encodedurl = ""; WebMD Today Home WebMD News Center XML News via RSS Member Services WebMD University My WebMD Find a Physician Medical Info Check Symptoms Medical Library Health Tools Clinical Trials ... Women, Men, Lifestyle Who We Are About WebMD Site Map You are in Medical Library Our Content Sources Ask A Question Clinical Trials Health Guide A-Z Health Topics Symptoms Medical Tests Medications ... For a Complete Report Rett Syndrome Important It is possible that the main title of the report Rett Syndrome is not the name you expected. Please check the synonyms listing to find the alternate name(s) and disorder subdivision(s) covered by this report. Synonyms Autism, Ataxia, and Loss of Purposeful Hand Use RS RTS Disorder Subdivisions None General Discussion Rett Syndrome is a rare neurodevelopmental disorder that appears to occur almost exclusively in females but can occur rarely in males. Infants and children with the disorder typically develop normally until about 7 to 18 months of age, when they may begin to lose previously acquired skills (developmental regression), such as purposeful hand movements and the ability to communicate. Additional abnormalities typically include slowing of head growth (acquired microcephaly); development of distinctive, uncontrolled (stereotypic) hand movements, such as hand clapping, rubbing, or "wringing"; and impaired control of voluntary movements required for coordination of walking (gait apraxia). Affected children also typically develop autistic-like behaviors, breathing irregularities, feeding and swallowing difficulties, growth retardation, and episodes of uncontrolled electrical activity in the brain (seizures).

85. Dani's Story, Rett Syndrome But as the rett syndrome started taking over, people thought that I must have Cerebral Palsy. They just didn t know, but while they were trying to figure me http://www.lehman.cuny.edu/faculty/jfleitas/bandaides/dani.html

One of the most important things about me is that although I have Rett Syndrome and can no longer talk, I still have plenty to say. Most folks think that because I can't talk, I must not understand what they're saying, or that I must be deaf, and so they shout at me. What's frustrating for me is that they're the ones who don't understand! My mom says that I have a pure spirit, and she tells me that I'm an angel sent to teach everybody what life is really all about. To describe me to someone who doesn't know me is difficult. Like all girls with this weird syndrome, and only girls get it, I have involuntary hand movements. Sometimes I wring my hands, sometimes I clap, and sometimes it looks like I'm trying to wash them. I'm not, it's just something that happens. I also have a unique movement. I cover my mouth with my right hand and flick the fingers of my left hand on my shoulder. I can't help that, but I can use my left hand in another way, too, a way that makes a lot more sense. I can use it to say "yes"! The best thing about me is my spirit and my smile. I have a smile that my mom says knocks people out, and I have this indomitable spirit. One time I almost died because of an infection in my lungs, but I fought hard to live and well, here I am today.

86. Our Story With Rett We were just beginning what has turned out to be our rett syndrome journey, though at that time (1981) Acceptance is the key to surviving rett syndrome. http://members.aol.com/Rsmother/ourstory.html

Welcome To ~Our Story With Rett Syndrome~ "We cannot live only for ourselves. A thousand fibers connect us with our fellow men; and along these fibers, as sympathetic threads, our actions run as causes, and they come back as effects." Herman Melville When we first found out that anything might be "wrong" with Dani, it was like going through the death of someone you love. You literally go through all the stages of grief; denial, anger, depression, grief and acceptance. Not always in that order, but most experience each emotion. "If you learn from your suffering, and really come to understand the lesson you were taught, you might be able to help someone else who’s now in the same phase you may have just completed. Maybe that’s what it’s all about after all." -Anonymous- We were seeing a group of five (5) Pediatricians and they all kept telling us the same thing, "Each child progresses at a different rate." For almost three years I listened to this. You may wonder why we didn't switch doctors..... part was probably denial, I knew something was wrong, but as long as I had 5 "professionals" telling me I was crazy, I could hold on to the last bit of hope I had.

87. Rett Syndrome Definition - Medical Dictionary Definitions Of Popular Medical Ter Online Medical Dictionary and glossary with medical definitions. http://www.medterms.com/script/main/art.asp?articlekey=11960

88. Health Care Information Resources Rett Syndrome Links rett syndrome Links. For more information, see Dystonia, rett syndrome rett syndrome Association UK complex inherited neurological disorder affecting http://www-hsl.mcmaster.ca/tomflem/rett.html

The address of this page is: http://hsl.mcmaster.ca/tomflem/rett.html Rett Syndrome Links For more information, see: Dystonia , also in the Illness section of this resource. For more information, see: Genetic Disorders , also in the Illness section of this resource. For more information, see: Women's health problems , also in the Illness section of this resource. Rett syndrome - Rett Syndrome Association UK complex inherited neurological disorder affecting women only Rett syndrome - Ontario Rett Syndrome Association supporting Ontario families with Rett syndrome Rett syndrome - International Rett Syndrome Association information, support, links to other sites Rett syndrome - Rett Syndrome Research Foundation Rett syndrome - Rett Syndrome Resources information about Rett Syndrome and genetic testing Rett syndrome - Belgian Rett Syndrome Site maintains a bibliography of articles on Rett Syndrome Rett syndrome - Rett Angel personal accounts and diagnostic info Please read

89. Special Child: Disorder Zone Archives - Rett Syndrome rett syndrome (RS) is a genetic disorder that is characterized by an initial period It was once believed that rett syndrome was a degenerative disorder, http://www.specialchild.com/archives/dz-002.html

Disorder Zone Archives Rett Syndrome Naomi Catford-Robinson Rebecca Morris Introduction Rett syndrome (RS) is a genetic disorder that is characterized by an initial period of normal development, followed by a loss of communication skills and purposeful hand movements. It is a disorder that is seen almost exclusively in females and occurs in a variety of racial and ethnic groups worldwide. RS has just recently been traced to a defective gene on the X chromosome called MeCP2. It is estimated that the incidence of RS is between 1 in every 10,000 to 15,000 live female births. Features and Characteristics Rett syndrome is often mistaken for autism, cerebral palsy, and mental retardation. However, no other condition has a period of rapid deterioration followed by stabilization and sometimes even improvements in autistic features, eye contact, and stereotypical hand movements. Since there is no form of laboratory testing for RS, diagnostic criteria and exclusionary criteria have been formed for the recognition of the syndrome. The following characteristics must be found in order to receive a diagnosis of RS: Normal development until approximately 6 to 18 months of age Normal head circumference at birth, followed by a slowed growth rate anywhere from 3 months to 4 years of age

90. Rett Syndrome rett syndrome Association UK is a registered charity which offers support to rett syndrome is a neurological disorder which occurs only in females and http://omni.ac.uk/browse/mesh/D015518.html

low graphics Rett Syndrome other: Canavan Disease Cockayne Syndrome Hepatolenticular Degeneration Hereditary Central Nervous System Demyelinating Diseases ... Rett Syndrome Association UK Rett Syndrome Association UK is a registered charity which offers support to females affected by Rett Syndrome, as well as the carers of these girls and women. Rett Syndrome is a neurological disorder which occurs only in females and those affected are totally dependent on others for their needs. The Rett Syndrome Association UK (RSAUK) provides support for its members in a variety of ways such as, office help, self-support groups, contact supporters network, CarersLine and out of office hours contact numbers. This site provides details about these services, their newsletter, and information about the syndrome. Rett Syndrome Organizations, Nonprofit Great Britain Charities ... International Rett Syndrome Association The home page for the International Rett Syndrome Association. The site contains information about Rett (a neurological disorder seen almost exclusively in females), case studies, a discussion group for professionals and the parents of Rett syndrome girls, events, publications, news updates and research contacts. Rett Syndrome Organizations, Nonprofit

91. Rett Syndrome, The First Identified Epigenetic Disease - Linked To Specific Defe ? Sometime between the age of 6 and 18 months, after a period of seemingly normal development, girls affected with rett syndrome lose interest in play; http://www.news-medical.net/?id=6892

92. Rett Syndrome - Enpsychlopedia Rett s syndrome (rett syndrome, Rett s disorder) is a progressive rett syndrome is an Xlinked, dominant disorder, caused by a mutation in the gene http://psychcentral.com/psypsych/Rett_syndrome

home resource directory disorders quizzes ... support forums Rett syndrome Contents showTocToggle("show","hide") 1 Introduction 2 Etiology 3 Development and Symptoms 5 Mortality ... edit Introduction Rett's syndrome (Rett syndrome, Rett's disorder) is a progressive neurological disorder , one of the leading disorders of mental retardation in females. The symptoms of this disorder are easily confused with those of autism and cerebral palsy edit Etiology Rett syndrome is an X-linked, dominant disorder, caused by a mutation in the gene encoding methyl-CpG-binding protein-2 (MECP2). The Rett gene (symbolized RTT) is found on the chromosome band Xq28, near the long end of the X chromosome. This disorder affects 1 in every 12,500 live births. The combination of an RTT gene-containing X chromosome with the Y chromosome is lethal gene combination, resulting in spontaneous abortion. Males who have two X chromosomes, one with the Rett gene,follow a similar development to women with Rett syndrome. edit Development and Symptoms Infants typically develop normally up to age 6-18 months. Physioneurological development tends to plateau after this brief period of normal development, and is followed by deterioration of high brain functions. Psychomotor and cognitive abilities rapidly decline within 1-2 years of age. Symptoms that develop are autistic-like, with mental retardation and poor growth. It is, hence, easy for the misdiagnosis of Rett for autism , or cerebral palsy Autistic-like symptoms in Rett disorder: screaming fits panic-like attacks

93. CCR: NIGMS HGCR: Rett Syndrome Collection rett syndrome (OMIM 312750) is a progressive neurological disorder that is The clinical variability of rett syndrome is broad and studies to assess http://locus.umdnj.edu/nigms/phenotype/rett.html

CCR NIGMS NIA NINDS ... LMS Quickfind... Animals Characterized Mutations Cell Types CEPH Families Chromosome Aberrations Controls Dysmorphology Gene Pathways HapMap Resource Human Variation Hybrids Inherited Disorders Extended Families Phenotypic Overviews Polymorphism Resource SNP500 Resource Special Collections Search NIGMS Catalog Search Help Quickfind... Animals Char. Mutations Cell Types CEPH Families Chrom. Aberrations Controls Dysmorphology Gene Pathways HapMap Resource Human Variation Hybrids Inherited Disorders Extended Families Phenotypic Overviews Polymorphism Res. SNP500 Resource Special Collections Repository Overview About NIGMS Diseases and Gene Variants Controls Search ... Site Map Rett syndrome collection Rett syndrome (OMIM # ) is a progressive neurological disorder that is inherited in an X-linked dominant fashion. The clinical variability of Rett syndrome is broad and studies to assess genotype-phenotype correlation have been inconsistent. Our collection of Rett syndrome cell lines came from thirty-four individuals, twenty-four of whom are affected with Rett syndrome. There are twenty-three affected females and one affected male ranging in age from two to thirty years. The ten unaffected individuals are first-degree relatives of the affected individuals. Of the twenty-four affected individuals, nineteen have an identified mutation in the gene (OMIM # ). There are twelve different

94. Rett Syndrome Is Caused By Mutations In X-linked MECP2, Encoding Methyl-CpG-bind rett syndrome1 (RTT, MIM 312750) is a progressive neurodevelopmental Examination of X chromosome markers in rett syndrome exclusion mapping with a http://www.nature.com/uidfinder/10.1038/13810

@import "/ng/style.css"; NATURE.COM NEWS@NATURE.COM NATUREJOBS NATUREEVENTS ... Help E-MAIL: PASSWORD: Save password Forgotten password? SEARCH JOURNAL Advanced search Journal home Archive Table of Contents ... For librarians NPG Resources Nature Nature Cell Biology Nature Medicine Nature Reviews Genetics ... Browse all publications Letter Nature Genetics doi:10.1038/13810 Rett syndrome is caused by mutations in X-linked , encoding methyl-CpG-binding protein 2 Ruthie E. Amir , Ignatia B. Van den Veyver , Mimi Wan , Charles Q. Tran , Uta Francke Department of Pediatrics, Baylor College of Medicine, Houston, Texas 77030, USA. Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, Texas 77030, USA. Department of Obstetrics and Gynecology, Baylor College of Medicine, Houston, Texas 77030, USA. Howard Hughes Medical Institute, Baylor College of Medicine, Houston, Texas 77030, USA. Department of Genetics, Stanford University School of Medicine, Stanford, California 94305, USA. Howard Hughes Medical Institute, Stanford University School of Medicine, Stanford, California 94305 , USA. Correspondence should be addressed to Huda Y. Zoghbi

95. Epilepsy Action: Rett Syndrome rett syndrome is a condition which occurs in 1 in 1015000 girls. Girls with rett syndrome develop normally for the first 6 months of life. http://www.epilepsy.org.uk/info/rett.html

HOMEPAGE EPILEPSY INFORMATION FREE EMAIL UPDATES OUR SERVICES ... RESEARCH NEWS SHOP AND DONATE EPILEPSY ACTION SHOP TESCO ONLINE GROCERIES AMAZON.CO.UK and more Epilepsy Action is a working name of British Epilepsy Association. British Epilepsy Association is a Registered Charity (Registered in England No. 234343). Rett Syndrome Rett Syndrome is a condition which occurs in 1 in 10-15,000 girls. It does not appear to affect boys. The cause in unknown and it usually does not affect more than one girl in a family. Symptoms Girls with Rett Syndrome develop normally for the first 6 months of life. Between 6 months and 2½ years (often between 6 - 18 months), their development slows up and may even go backwards. They become less interested in play, lose the ability to speak and possibly become irritable. They stop using their hands purposefully and they may, instead, begin to move their hands in a repetitive way, often with hand-wringing movements. Epilepsy is not uncommon, but usually begins after the age of 2 years. The seizures may be of various types including generalised tonic clonic, absences, myoclonic jerks, atonic and tonic. Often, more than one seizure types is present. Frequently, girls with Rett Syndrome have periods of rapid or slow breathing. These periods are sometimes associated with faints, which can be mistaken for epileptic seizures.

96. UAB Health System | Unveiling The Mysteries Of Rett Syndrome Since diagnostic criteria for rett syndrome were first established in 1985, Girls born with rett syndrome show an early period of apparently normal http://www.health.uab.edu/show.asp?durki=55670

97. Rett Syndrome rett syndrome is a developmental nervous system disorder primarily affecting girls. There are two types of rett syndrome, depending on the symptoms. http://healthgate.partners.org/browsing/browseContent.asp?fileName=22489.xml&tit

98. Scientists Create First Animal Model Of Rett Syndrome - MIT News Office Researchers from the Whitehead Institute for Biomedical Research have created the longawaited animal model for rett syndrome. http://web.mit.edu/newsoffice/2001/rett-0321.html

Skip to content massachusetts institute of technology news office advanced search news recent research campus by topic ... archives services request images subscribe submit news promote news ... media inquiries about us news office info MIT background contact Scientists create first animal model of Rett syndrome Nadia Halim, Whitehead Institute March 21, 2001 Researchers from the Whitehead Institute for Biomedical Research have created the long-awaited animal model for Rett syndrome, one of the most common causes of mental retardation in females with an incidence of one in 10,000-15,000. The transgenic mouse model sheds much-needed light on the underlying mechanism of the disease and suggests a new reason for hope in the research toward therapies. Rett syndrome, caused by a defective gene on the X-chromosome, is thought to have a lethal effect in males before birth or shortly after. Girls with Rett syndrome (and two copies of the X chromosome) are healthy babies who develop normally until six to eighteen months old. But then something goes terribly wrong their health deteriorates and they begin to show symptoms such as loss of speech, loss of voluntary motor control, constant hand wringing and seizures. The work, published in the March issue of Nature Genetics by MIT Professor of Biology Rudolf Jaenisch and colleagues, suggests that the genetic defect underlying Rett syndrome has an effect not only during brain development before birth but has critical, prolonged effects even after birth. Since it is easier to treat newborns than to correct defects in embryonic development, these findings may hold promise for future therapies.

99. Lamotrigine & Rett Syndrome Lamotrigine rett syndrome. This article submitted by Veronica Morley (a parent) on My daughter, Rachael, was diagnosed with rett syndrome at age 3. http://neuro-www.mgh.harvard.edu/neurowebforum/ChildNeurologyArticles/Lamotrigin

This article submitted by Veronica Morley (a parent) on 5/23/95. My daughter, Rachael, was diagnosed with Rett Syndrome at age 3. At age 4 she began to have seizures. These have been primarily tonic-clonic seizures, but also a few atonic seizures."Tegretol" (carbamazepine)was the most effective anticonvulsant. When it no longer controlled the seizures, Rachael was switched to"Lamictal" (lamotrigine),which has worked very well so far, with the unexpected benefits of increased alertness, and increased purposeful hand use. Unfortunately, I can find very little information on this new drug. What are the side effects? Any consequences of long term use? Thank you in advance for your assistance. Next Article Previous Article Return to Topic Menu Here is a list of responses that have been posted to this article... more about Lamotrigine please (4/11/96) 1:00 PM RettNet (10/20/95) 11:09 PM My experience with Lamotrigine (9/21/95) 3:42 AM (7/16/95) 3:49 AM ... Lamotrigine for Rett (5/25/95) 10:14 AM You now have TWO OPTIONS: Post a new Article or post a Response to this Article Click here to post a new Article!

100. AllRefer Health - Rett Syndrome rett syndrome information center covers causes, prevention, symptoms, diagnosis, treatment, incidence, risk factors, signs, tests, support groups, http://health.allrefer.com/health/rett-syndrome-info.html

AllRefer Channels :: Yellow Pages Reference Health Home ... Contact Us Quick Jump ADD/ADHD Allergies Alzheimer's Disease Arthritis Asthma Back Pain Breast Cancer Cancer Colon Cancer Depression Diabetes Gallbladder Disease Heart Attack Hepatitis High Cholesterol HIV/AIDS Hypertension Lung Cancer Menopause Migraines/Headaches Osteoporosis Pneumonia Prostate Cancer SARS Stroke Urinary Tract Infection 1600+ More Conditions Alternative Medicine Health News Symptoms Guide Special Topics ... Medical Encyclopedia Web health.allrefer.com You are here : AllRefer.com Health Rett Syndrome Rett Syndrome Definition Treatment Expectations or Prognosis Complications ... Go To Main Page Definition Rett syndrome is an inherited disorder that affects only females. The syndrome causes mental retardation and developmental degeneration. Rett Syndrome is a severe progressive neurological disorder that causes marked developmental regression, especially in the areas of expressive language and hand use. It occurs only in girls. The gene associated with this disorder was recently identified on the X-chromosome. This gene encodes methl-CpG-binding protein 2 (MeCP2), which regulates synthesis (transcription) of various other proteins. Synthesis of incorrect proteins, due to mutations in the gene, causes damage in the maturing brain. The severity of the disease is linked to specific types of mutation.

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