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Topic: Rett syndrome

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	Rett syndrome - Wikipedia, the free encyclopedia
		Rett syndrome (Rett syndrome, Rett's disorder) is a progressive neurological disorder.
		Rett syndrome is usually caused by a mutation in the gene encoding methyl-CpG-binding protein-2 (MECP2).
		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)

	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.
		Rett Syndrome occurs almost exclusively in girls and may be misdiagnosed as autism or cerebral palsy.
		The gene associated with Rett syndrome is on the X-chromosome.
	www.nlm.nih.gov /medlineplus/ency/article/001536.htm (1197 words)

	Rett Syndrome
		The course of Rett syndrome, including the age of onset and the severity of symptoms, varies from child to child.
		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).
		The discovery of the Rett syndrome gene in 1999 provides a basis for further genetic studies and enables the use of recently developed animal models such as transgenic mice.
	clevelandclinic.org /health/health-info/docs/1300/1334.asp?...&src=news (2102 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.
		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.
		Doctors diagnose Rett syndrome by observing signs and symptoms during the child's early growth and development, and conducting ongoing evaluations of the child's physical and neurological status.
	www.ninds.nih.gov /health_and_medical/pubs/rett.htm (2231 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)

	Rett Syndrome Is Traced to a Surprising Genetic Culprit
		Rett syndrome was first described in the German literature in 1966 by Dr. Andreas Rett, but received little attention in the United States until a 1983 paper by Dr. Bengt Hagberg and colleagues was published in the Annals of Neurology.
		Infants with Rett syndrome develop normally for the first six to 18 months, then motor skills and speech typically regress; walking is often delayed or accomplished with great difficulty.
		Because documented cases of Rett syndrome in boys are extremely rare—and almost always occur in conjunction with Klinefelter's syndrome (two X chromosomes)—researchers have long suspected that Rett syndrome is caused by a dominant mutation on the X chromosome.
	www.neurologyreviews.com /dec99/nr_dec99_RettSyn.html (1244 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)

	Rett Syndrome
		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.
		Rett syndrome is diagnosed according to the pattern of symptoms.
	www.hmc.psu.edu /childrens/healthinfo/r/rhett.htm (629 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.
		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.
		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.
	healthlink.mcw.edu /article/921961093.html (218 words)

	Rett syndrome - Areas of Research - MRDDRC (Site not responding. Last check: 2007-10-09)
		Rett Syndrome is a rare neurodevelopmental disorder that occurs almost exclusively in females.
		Rett syndrome is a major genetic cause of mental retardation in females.
		The apparently normal period of early development in Rett syndrome patients is an encouragement in the search for a way to intervene early in treatment of the disorder.
	mrrc.bcm.tmc.edu /research%20areas/rett.html (740 words)

	Rett (Site not responding. Last check: 2007-10-09)
		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 ...
		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.
		Identifying the gene that causes this syndrome was an important discovery not only for Rett Syndrome, but also for a wide range of disorders, including autism, schizophrenia, Alzheimer’s, Parkinson’s, learning disabilities and neonatal encephalopathy.
	www.prweb.com /releases/2005/5/prwebxml237682.php (769 words)

	RETT SYNDROME: Contact a Family - for families with disabled children: information on rare syndromes and disorders (Site not responding. Last check: 2007-10-09)
		Rett syndrome is the clinical expression of the Rett disorder, a complex, genetic, neurological condition which affects far more girls than boys.
		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.
		The cause of Rett syndrome is mutations of a gene, MECP2, on the X-chromosome.
	www.cafamily.org.uk /Direct/r30.html (1283 words)

	Rett Syndrome
		A neurodevelopmental disorder that affects females, Rett syndrome is associated with cortical atrophy, stereotypical hand movements and severe mental deficiency.
		Rett syndrome is characterized by loss of acquired skills after a period of normal development in infancy.
		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)

	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)

	AllRefer Health - Rett Syndrome
		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.
	health.allrefer.com /health/rett-syndrome-info.html (417 words)

	ScienceDaily: Researchers Identify A New Form Of Disease Gene Associated With Rett Syndrome (Site not responding. Last check: 2007-10-09)
		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)

	Helping Girls with Rett Syndrome Improve Growth / February 23, 1999 / News from the USDA Agricultural Research Service
		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.
		The girls with Rett Syndrome had a positive energy balance, but it was lower than average for girls their age.
		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.
	www.ars.usda.gov /is/pr/1999/990223.htm (348 words)

	Center for the Study of Autism (Site not responding. Last check: 2007-10-09)
		Rett Syndrome was first recognized by Andreas Rett in 1966 and is a neurological disorder affecting primarily females.
		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 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)

	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 likely develop the illness in a way similar to autism, but detection often is delayed because of the greater subtlety of its presentation.
		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.
	www.emedicine.com /med/topic3202.htm (5827 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)

	ScienceDaily: Discovery Will Aid Identification Of Misregulated Genes In Rett Syndrome
		Rett Syndrome (RTT) is a severe neurological disorder diagnosed almost exclusively in girls.
		Researchers hypothesize that the devastating cascade of symptoms seen in Rett Syndrome is caused by the inability of mutated MeCP2 to silence its target genes.
		Rett Gene Regulates Alternative Splicing (October 19, 2005) -- The gene responsible for Rett syndrome, a devastating neurological disease found mostly in girls, not only silences some genes but in combination with another also regulates alternative splicing,...
	www.sciencedaily.com /releases/2005/09/050904123440.htm (1052 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.
		Living with Rett syndrome is kind of like being on a roller coaster that never stops.
		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.
	members.tripod.com /~conniecoughlin/livingwrs.html (679 words)

	www.ddhealthinfo.org - Medical Care Information (Site not responding. Last check: 2007-10-09)
		Rett Syndrome is a disorder recognized initially in females characterized by developmental stagnation and subsequent loss of acquired developmental skills, with onset usually around 12 months (6-18 months) of age.
		Rett Syndrome is characterized by a period of apparently normal early development.
		As a result, nearly all children with Rett Syndrome are identified in early childhood when they first evidence developmental stagnation or regression.
	www.ddhealthinfo.org /ggrc/doc2.asp?ParentID=3085 (915 words)

	NICHCY Web Resource Page: NICHCY Connections...to Rett Syndrome
		Rett Syndrome Research Foundation (RSRF) offers "About Rett Syndrome" as well as information about diagnosis and the gene found to be involved in RS.
		Given the Rett Syndrome is considered one of the disorders along the autism spectrum, you may also find useful information, assistance, and connection to local resources at any or all of the autism-related organizations we've listed in our companion Connections page on autism.
		Again, from the perspective that Rett Syndrome is a disorder on the autism spectrum, the following autism-related information may be useful to you.
	www.nichcy.org /resources/rett.asp (1895 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 Information Page: National Institute of Neurological Disorders and Stroke (NINDS)
		Rett syndrome is a childhood neurodevelopmental disorder that affects females almost exclusively.
		As the syndrome progresses, a child will lose purposeful use of her hands and the ability to speak.
		The inability to perform motor functions is perhaps the most severely disabling feature of Rett syndrome, interfering with every body movement, including eye gaze and speech.
	www.ninds.nih.gov /health_and_medical/disorders/rett_doc.htm (500 words)

	NIH News Release--Mouse With Rett Syndrome May Provide Model for Testing Treatments, Understanding Disorder--07/29/2002
		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.
		While Rett syndrome occurs in roughly one in every 10,000 females, it is extremely rare in males.
		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.
	www.nih.gov /news/pr/jul2002/nichd29a.htm (829 words)

	Rett's syndrome (www.whonamedit.com)
		The disorder was originally described by Andreas Rett of Austria in 1966, but was not known worldwide until two decades later following a report by Hagberg et al describing 35 affected girls from Sweden, Portugal, and France.
		A progressive syndrome of autism, dementia, ataxia, and loss of purposeful hand ise girls: Rett syndrome: report of 35 cases.
		Rett syndrome: Swedish approach to analysis of prevalence and cause.
	www.whonamedit.com /synd.cfm/2197.html (367 words)

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