Gourt > Health > Conditions and Diseases > Neurological Disorders > Rett Syndrome (1)
Rett syndrome (Rett syndrome, Rett's disorder) is a progressive neurological disorder. The symptoms of this disorder are easily confused with those of cerebral palsy. The clinical diagnosis specifies a small head and small hands and feet. Stereotypical repetitive hand movements such as mouthing or wringing of the hands are also included as diagnostic signs. Symptoms of the disease include learning disorders and a total inability to socialize. Girls with Rett syndrome are very prone to seizures and gastrointestinal disorders. They typically have no verbal skills, and about 50% of females are ambulatory.
Etiology
Rett syndrome (symbolized RTT) is X-linked dominant, affecting almost exclusively girls. Development is normal until 6-18 months, when language and motor milestones regress, purposeful hand use is lost and acquired microcephaly is seen. Hand-wringing and sighing are characteristic, and those affected develop autistic behavior. Rett syndrome is usually caused by a mutation in the gene encoding methyl-CpG-binding protein-2 (MECP2). MECP2 is found on chromosome band Xq28, near the long end of the X chromosome. Rett syndrome can also be caused by a mutation to the gene encoding cyclin-dependent kinase-like 5 (CDKL5). Rett syndrome affects one in every 12,500 female live births.
Gender and Rett syndrome
Most individuals with Rett syndrome are female. 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). While a plausible hypothesis, more recent research has contradicted this explanation. More on [ Rett syndrome ]
Genetic Disorders
Rare Disorders :: Conditions and Diseases
Causes :: Mental Retardation
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Rett Syndrome Research Foundation - Promotes biomedical research for the treatment of Rett Syndrome, often misdiagnosed as Autism and Hypotonia. Offers detailed information, links, studies, support groups, and information on the Rett Syndrome gene MECP2 recently discovered.
Meta Description: [ The Rett Syndrome Research Foundation (RSRF) is the world's leading private funder of research for Rett Syndrome, a devastating neurological disorder that is diagnosed almost exclusively in little girls. ]
International Rett Syndrome Association - Information about Rett Syndrome and the IRSA.
National Institutes of Health - Information in Rett Syndrome, treatment and prognosis.
Meta Description: [ Rett Syndrome information sheet compiled by NINDS, the National Institute of Neurological Disorders and Stroke. ]
Rett Angels - Rett Syndrome forum and online support group sharing personal stories and information.
Meta Description: [ Home to information concerning people with Rett Syndrome, their families and friends. ]
Rett Language - One family's experience with Rett Syndrome, Applied Behavioral Analysis and Discrete Trial Teaching.
Rett Syndrome - The Autism Research Institute distributes an information packet on Rett Syndrome.
Rett Syndrome Association (UK) - The Rett Syndrome Association UK, a registered charity, is dedicated to the support of girls and women, together with their families and carers, suffering from this complex neurological disorder, which affects them throughout their lives. Sufferers are profoundly and multiply disabled.
Meta Description: [ Rett Syndrome Association UK website home page ]
Rett Syndrome Association of Ireland - A support group for the victims of RS and their families. Read about the organization and the disorder.
Rett Syndrome Fact Sheet - An in depth look at this syndrome prepared by the National Institute of Neurological Disorders and Stroke (NINDS).
Rett Syndrome Resources - Facts and various information containing links.
Meta Description: [ Rett Syndrome Race for the cure! ]
The Sarah Varon Foundation for Rett Research - A family dedicated to finding a cure for Rett Sydrome. Find announcements, photos, and an overview of the disease.
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