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Rett syndrome - Wikipedia, the free encyclopedia Rett syndrome is usually caused by a mutation in the gene encoding methyl-CpG-binding protein-2 (MECP2). Rett syndrome (Rett syndrome, Rett's disorder) is a progressive neurological disorder. One explanation given for this was that the genetic defect that caused Rett syndrome in females caused embryonic lethality in males (that is, males with pathogenic MECP2 mutations died before they were born). en.wikipedia.org /wiki/Rett_syndrome   (603 words)

Rett Syndrome Rett syndrome is a progressive neurological disorder in which individuals exhibit reduced muscle tone, autistic-like behavior, hand movements consisting mainly of wringing and waving, loss of purposeful use of the hands, diminished ability to express feelings, avoidance of eye contact, a lag in brain and head growth, gait abnormalities, and seizures. In spite of the severe impairments that characterize this disorder, the majority of individuals with Rett can be expected to reach adulthood, surviving at least into their 40s. The syndrome affects approximately 1 in every 10,000-15,000 live female births, with symptoms usually appearing in early childhood -- between ages 6 and 18 months. healthlink.mcw.edu /article/921961093.html   (218 words)

Rett Syndrome Fact Sheet: National Institute of Neurological Disorders and Stroke (NINDS) Rett syndrome is a childhood neurodevelopmental disorder characterized by normal early development followed by loss of purposeful use of the hands, distinctive hand movements, slowed brain and head growth, gait abnormalities, seizures, and mental retardation. Rett syndrome is caused by mutations (structural alterations or defects) in the MECP2 (pronounced meck-pea-two) gene, which is found on the X chromosome (see section on "Who gets Rett syndrome" for a discussion of the importance of the involvement of the X chromosome). Although Rett syndrome is a genetic disorder — resulting from a faulty gene or genes — less than 1 percent of recorded cases are inherited or passed from one generation to the next. www.ninds.nih.gov /health_and_medical/pubs/rett.htm   (2231 words)

MedlinePlus Medical Encyclopedia: Rett syndrome Rett syndrome is a disorder of the nervous system that leads to regression in development, especially in the areas of expressive language and hand use. The gene associated with Rett syndrome is on the X-chromosome. Rett Syndrome occurs almost exclusively in girls and may be misdiagnosed as autism or cerebral palsy. www.nlm.nih.gov /medlineplus/ency/article/001536.htm   (1197 words)

RETT SYNDROME: Contact a Family - for families with disabled children: information on rare syndromes and disorders The cause of Rett syndrome is mutations of a gene, MECP2, on the X-chromosome. A case of Rett syndrome is believed to be due to the development of a fresh dominant mutation in a germ cell of one parent. Rett syndrome is the clinical expression of the Rett disorder, a complex, genetic, neurological condition which affects far more girls than boys. www.cafamily.org.uk /Direct/r30.html   (1283 words)

Rett Syndrome Rett Syndrome results from a mutation (change) on the X chromosome that is transmitted as an X-linked trait. Many clinicians believe that Asperger's syndrome is a sub-type of autism that is differentiated by a later onset (i.e., it is usually not recognized before 30 months of age) and by the fact that speech generally is not delayed, as it often is in children with autism. The diagnosis of Rett Syndrome is confirmed by the presence of the MECP2 mutation and clinical evaluation. hw.healthdialog.com /kbase/nord/nord182.htm   (2236 words)

Center for the Study of Autism The prevalence of Rett Syndrome is similar to the prevalence of autism; that is, estimates are between 1 in 10,000 births and 1 in 15,000 births. Rett Syndrome was first recognized by Andreas Rett in 1966 and is a neurological disorder affecting primarily females. Rett syndrome results from the mutation of the gene that makes methyl cytosine binding proetin, resulting in excessive amounts of this protein. www.autism.org /rett.html   (207 words)

Rett Syndrome Rett syndrome is characterized by loss of acquired skills after a period of normal development in infancy. A neurodevelopmental disorder that affects females, Rett syndrome is associated with cortical atrophy, stereotypical hand movements and severe mental deficiency. Genetic analysis for Rett Syndrome at the Greenwood Genetic Center includes complete sequencing of the entire coding region of the MECP2 gene. www.ggc.org /Diagnostics/Molecular/rett_syndrome.htm   (304 words)

Rett Syndrome Rett syndrome is diagnosed according to the pattern of symptoms. Males that inherit one mutated Rett syndrome gene on the X chromosome are miscarried during pregnancy, because they do not have a second normal X chromosome. With Rett syndrome, this regression is especially noticeable in the use of language and the hands. www.hmc.psu.edu /childrens/healthinfo/r/rhett.htm   (629 words)

Epilepsy Action: Rett Syndrome Rett Syndrome is a condition which occurs in 1 in 10-15,000 girls. The diagnosis of Rett Syndrome cannot usually be made with certainty until 3 - 5 years of age. The seizures may become less of a problem in adolescence and early adult life, but girls with Rett Syndrome usually have increasing difficulty with mobility and need special attention to prevent scoliosis (bending of the spine). www.epilepsy.org.uk /info/rett.html   (372 words)

AllRefer Health - Rett Syndrome Rett Syndrome is a severe progressive neurological disorder that causes marked developmental regression, especially in the areas of expressive language and hand use. The syndrome causes mental retardation and developmental degeneration. Rett syndrome is an inherited disorder that affects only females. health.allrefer.com /health/rett-syndrome-info.html   (417 words)

Rett syndrome - Genetics Home Reference Mutations in the MECP2 gene cause Rett syndrome. Rett syndrome is a disorder of brain development that occurs almost exclusively in girls. This defect disrupts the functioning of nerve cells and leads to the signs and symptoms of Rett syndrome. ghr.nlm.nih.gov /condition=rettsyndrome   (687 words)

Helping Girls with Rett Syndrome Improve Growth / February 23, 1999 / News from the USDA Agricultural Research Service The prevalence of Rett Syndrome in various countries ranges from 1 in 10,000 to 1 in 23,000 live female births, according to the International Rett Syndrome Association. The girls with Rett Syndrome had a positive energy balance, but it was lower than average for girls their age. A long-running energy deficit may play a role in the hampered nutrition and growth caused by Rett Syndrome, according to studies by a pediatrician with the Children’s Nutrition Research Center in Houston, Texas. www.ars.usda.gov /is/pr/1999/990223.htm   (348 words)

Rett Beyond saying that Rett syndrome is a “neurologic disorder”, there is little agreement as to whether to classify it as a “neurodegenerative disease” or a “mental retardation syndrome”. The longevity of a person with Rett syndrome may be reduced, also a number of sudden and unexplained deaths in children with the disease. While there is no specific treatment for Rett syndrome, the sensitive and interested physician can help ensure the best possible quality of life for the patient with Rett syndrome and can be a source of support and comfort to the family. home.coqui.net /myrna/rett.htm   (1434 words)

Research Foundation Born from a Mother’s Love Coenraads Continues Struggle to Find Cure for Daughter’s Disorder with Foundation’s Largest Fundraiser In fact, Rett Syndrome, a debilitating neurological disorder, is the leading genetic cause of severe impairment in females. Rett Syndrome is the only autism-spectrum disorder with a known genetic cause. In 1999 a research team identified the cause of Rett Syndrome as a defect in the MECP2 gene on the X chromosome. www.prweb.com /releases/2005/5/prwebxml237682.php   (769 words)

ScienceDaily: Researchers Identify A New Form Of Disease Gene Associated With Rett Syndrome Rett syndrome is a genetic neurological disorder that occurs almost exclusively in girls, as the gene is found on the X chromosome. Rett syndrome is believed to affect 1 in 10,000 females. Scientists Identify DNA Flanking Region As Trigger For Genetic Instability (April 26, 2002) -- Scientists at The Hospital for Sick Children and the University of Toronto have shown that the DNA flanking region in a family of neurological disorders is triggering the genetic mutation that... www.sciencedaily.com /releases/2004/03/040323071138.htm   (1125 words)

Coping With Rett Syndrome One symptom of Rett Syndrome is profound growth failure. Part of her research involves comparing the metabolism and physiology of girls with Rett Syndrome to those of healthy girls. Although the energy balance of calories consumed, minus calories used, was positive in girls with Rett Syndrome, it was lower than that of age-matched, healthy girls. www.ars.usda.gov /is/AR/archive/feb99/rett0299.htm   (746 words)

HHMI News: Rett Syndrome Traced to Defective Gene "Silencer" Rett syndrome (RTT) is a neurodevelopmental disorder seen in young girls that causes a sudden and permanent decline in mental capabilities. Huda Zoghbi, who was then a neurology fellow, published a clinical research report on Rett syndrome. We basically had to pick candidate genes and see if they were the gene involved in Rett syndrome," she explained. www.hhmi.org /news/zoghbi2.html   (1167 words)

Rett Syndrome Research Foundation: Introduction to Rett Syndrome Rett Syndrome (RTT) is a debilitating neurological disorder diagnosed almost exclusively in females. RTT was originally described by Dr. Andreas Rett of Austria in 1966, but was relatively unknown until the mid 1980's when an article describing the syndrome was published in a well-known scientific journal. Fewer then 1% of Rett cases are familial. www.rsrf.org /about_rett_syndrome   (244 words)

Special Child: Disorder Zone Archives - Rett Syndrome 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. Rett syndrome is often mistaken for autism, cerebral palsy, and mental retardation. Although Rett syndrome is a life long condition, it is not as bad as we first thought. www.specialchild.com /archives/dz-002.html   (3483 words)

Latest Breaking Health News & Information: Applesforhealth.com Rett syndrome is the first human disease found to be caused by mutations in this type of gene. Researchers have traced the cause of Rett syndrome, one of the most common forms of mental retardation in females, to a defective gene on the X chromosome. The study, reported in the journal Nature Genetics, was led by Dr. Huda Zoghbi, Howard Hughes Medical Institute Investigator at Baylor College of Medicine in Houston. www.applesforhealth.com /defectivegene1.html   (206 words)

Our Rett Syndrome Web Site Rett syndrome is a neurological disorder occurring primarily in girls, in which individuals exhibit reduced muscle tone, autistic-like behavior, stereotyped hand movements consisting mainly of wringing and waving, loss of purposeful use of the hands, diminished ability to express feelings, avoidance of eye contact, a lag in brain and head growth, gait abnormalities and seizures. The syndrome was first recognized in 1966 by Dr. Andreas Rett, however it was not until a paper was published by Dr. Bengt Hagberg in 1983 that the disorder was made widely known in medical circles. Be sure to visit the Belgian Rett Syndrome Association's comprehensive bibliography on Rett Syndrome literature. www.bundlings.com /irsg.htm   (532 words)

eMedicine - Pervasive Developmental Disorder: Autism : Article by Paul Dagg, MD Rett disorder appears to be transmitted as a dominant X-linked illness with full or nearly full penetrance, with early death of male fetuses through spontaneous abortion. Individuals with Asperger syndrome share social and behavioral symptoms with autism yet show no significant general delay in language or cognitive development, although there is impairment in the social or occupational areas. Individuals with Asperger syndrome likely develop the illness in a way similar to autism, but detection often is delayed because of the greater subtlety of its presentation. www.emedicine.com /med/topic3202.htm   (5827 words)

Rett Syndrome This listserv is run by 2 Rett moms, and everyone is screened to make sure they have a valid interest in Rett Syndrome. Click_here to join a Rett forum full of new and experienced Rett parents. Rett education - Want to join a listserv that discusses education issues for those who have Rett syndrome? expage.com /page/curerettnow   (183 words)

eMedicine - Pervasive Developmental Disorder: Rett Syndrome : Article by Joseph H Schneider, MD Rett syndrome diagnostic criteria: Diagnosis of classic RS requires that patients meet certain necessary, supportive, and exclusionary characteristics as outlined in Table 1. The Blue Bird Circle Rett Center is part of a Rett Consortium with the University of Alabama at Birmingham and the University of California at Los Angeles. Glaze DG, Schultz RJ, Frost JD: Rett syndrome: characterization of seizures versus non-seizures. www.emedicine.com /ped/topic2653.htm   (5437 words)

Rett Hellas RETT, τα εξήγησε πρώτος ο Αυστριάκος γιατρός Δώκτωρ Ανδρέας Ρεττ το 1966. Άτομα με το Συνδρομο RETT είναι βαθύτατα και πολλαπλώς ανίκανα και τελείως εξαρτημένα σε άλλους για τις ανάγκες τους κατά την διάρκεια της ζωής τους. Παρ’ όλο που αρχικά τα συμπτώματα του Σύνδρομου RETT δεν είναι φανερά, παρουσιάζεται από την γέννηση και φανερόνονται κατά την διάρκεια του δεύτερου έτους. www.rettsyndrome.com /greece.htm   (353 words)

Faulty control gene underlies retardation, Science News Online (10/2/99) Girls with Rett syndrome have a defective MECP2 gene on one of their two X chromosomes and a sound gene on the other. The disease, called Rett syndrome, is the most common cause of severe retardation in women. Because every cell in a girl's body consults only one X, and picks which one at random, half her cells are ruled by the healthy silencing gene and half by the faulty copy. www.sciencenews.org /sn_arc99/10_2_99/fob5.htm   (631 words)

NIH News Release--Mouse With Rett Syndrome May Provide Model for Testing Treatments, Understanding Disorder--07/29/2002 Although Rett syndrome in humans occurs primarily in females, the researchers used male mice to generate their mouse model of the syndrome, tampering with the MECP2 genes of the male mice in a way that was mild enough to allow the animals to survive. Because of the random nature of X chromosome inactivation, some females with Rett syndrome have many cells in which the abnormal MECP2 gene is expressed, while others have few cells in which the abnormal gene is expressed. Scientists believe that the more cells a Rett syndrome patient has that express the abnormal gene, the more severe her symptoms will be. www.nih.gov /news/pr/jul2002/nichd29a.htm   (829 words)

Rett's syndrome (www.whonamedit.com) Rett syndrome: Swedish approach to analysis of prevalence and cause. A progressive syndrome of autism, dementia, ataxia, and loss of purposeful hand ise girls: Rett syndrome: report of 35 cases. In the spring of 1965, Andreas Rett observed two young girls sitting on their mothers’ laps in his waiting room. www.whonamedit.com /synd.cfm/2197.html   (367 words)

Living With Rett Syndrome According to the International RETT Syndrome Association (IRSA) there are over 3000 reported cases of Rett in the world, with more than 2000 being in the United States. It has it's ups and downs, the smooth but bumpy course, the twists and turns that somehow seem to come when you least expect them, and knock you back into the reality that your child is different from others, but that doesn't mean she can't learn and can't lead a full and impact-filled life. Living with Rett syndrome is kind of like being on a roller coaster that never stops. members.tripod.com /~conniecoughlin/livingwrs.html   (679 words)

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