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Genetic and Rare Diseases Information Center (GARD)

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Rett syndrome


Other Names for this Disease
  • Autism, dementia, ataxia, and loss of purposeful hand use
See Disclaimer regarding information on this site. Some links on this page may take you to organizations outside of the National Institutes of Health.


Your Question

My friend's 3-year-old daughter was just diagnosed with Rett Syndrome. A boy sibling was born last week, and he does not have Rett syndrome. Where can we find more information? How do you become part of a clinical trial?

Our Answer

We have identified the following information that we hope you find helpful. If you still have questions, please contact us.

What is Rett syndrome?

Rett syndrome is a childhood disorder characterized by normal early development followed by loss of purposeful use of the hands, distinctive hand movements, slowed brain and head growth, abnormal walk (gait), seizures, and mental retardation. It affects females almost exclusively.[1]
Last updated: 12/8/2011

What causes Rett syndrome?

Most cases of classic Rett syndrome are caused by mutations in the MECP2 gene. This gene provides instructions for making a protein (MeCP2) that is critical for normal brain development. The MeCP2 protein likely plays a role in forming connections (synapses) between nerve cells. Researchers believe that this protein has several functions, including regulating other genes in the brain by switching them off when they are not needed. The MeCP2 protein may also control the production of different versions of certain proteins in nerve cells. Although mutations in the MECP2 gene disrupt the normal function of nerve cells, it is unclear how these mutations lead to the signs and symptoms of Rett syndrome [2].
Last updated: 12/8/2011

Is Rett syndrome inherited?

Although Rett syndrome is a genetic disorder, less than 1 percent of recorded cases are inherited or passed from one generation to the next. Most cases are sporadic, which means the mutation occurs randomly, and are not inherited. A few families have been described with more than one affected family member. These cases helped researchers determine that Rett syndrome has an X-linked dominant pattern of inheritance. A condition is considered X-linked if the mutated gene that causes the disorder is located on the X chromosome, one of the two sex chromosomes. The inheritance is dominant if one copy of the altered gene in each cell is sufficient to cause the condition.[2]
Last updated: 12/8/2011

Where can I find more information about Rett syndrome?

Additional information and supportive resources for Rett syndrome are available from the following organizations.

International Rett Syndrome Association
4600 Devitt Drive
Cincinnati, OH   45246
Phone: 513-874-3020
Fax: 513-874-2520
Online email: http://www.rettsyndrome.org/index.php?option=com_contact&Itemid=509
Web site: http://www.rettsyndrome.org/
Click here for general information about Rett syndrome.  

The National Organization for Rare Disorders (NORD) is a federation of more than 130 nonprofit voluntary health organizations serving people with rare disorders. You can order a printed report on Rett syndrome through NORD’s Web site, or by calling or writing the NORD offices.

The link to the page on Rett syndrome is as follows. You can also access this page by visiting the NORD Web site, clicking on Rare Disease Database, and typing 'Rett syndrome' in the search box.
http://www.rarediseases.org/rare-disease-information/rare-diseases/byID/182/viewAbstract

Please note that the first disease report requested by phone or mail is free; there is a charge for subsequent reports. Online, there is no charge to search the database of 2,000 organizations or to read abstracts about the diseases; there is a charge for the full-text disease reports ordered online.

National Organization for Rare Disorders (NORD)
55 Kenosia Avenue
PO Box 1968
Danbury, CT 06813-1968
Toll free:  800-999-6673 (voicemail only)
Telephone:  203-744-0100
TDD:  203-797-9590
Fax:  203-798-2291
E-mail:   orphan@rarediseases.org
Web site:   http://www.rarediseases.org/

Last updated: 10/18/2013

How can I learn about research involving Rett syndrome?

The Angelman, Rett, and Prader-Willi Syndrome Consortium (ARPWSC) is an integrated group of academic medical centers, patient support organizations, and clinical research resources dedicated to conducting clinical research in genetic and neurodevelopmental disorders, with the goal of improving the care of patients with Angelman Syndrome, Prader-Willi Syndrome, and Rett Syndrome. Contact the ARPWSC to learn more about joining the Rett syndrome registry and participating in research studies.

Angelman, Rett & Prader-Willi Syndromes Consortium Registry
Department of Molecular and Human Genetics
Baylor College of Medicine
One Baylor Plaza Rm. T619
Houston TX 77030
Phone: 713-798-4795
Fax: 713-798-7773
Email: sweaver@bcm.tmc.edu
Web site: http://rarediseasesnetwork.epi.usf.edu/arpwsc/index.htm

The U.S. National Institutes of Health, through the National Library of Medicine, developed ClinicalTrials.gov to provide patients, family members, and members of the public with current information on clinical research studies. Currently, 5 clinical trials are identified as enrolling individuals with Rett syndrome. To find these trials, click on the link above and use "Rett syndrome" as your search term. After you click on a study, review its "eligibility" criteria to determine its appropriateness. Use the study’s contact information to learn more. Check this site often for regular updates.

You can also contact the Patient Recruitment and Public Liaison (PRPL) Office at the National Institutes of Health (NIH). We recommend calling the toll-free number listed below to speak with a specialist, who can help you determine if there are any other relevent clinical trials.

Patient Recruitment and Public Liaison Office
NIH Clinical Center
Bethesda, Maryland 20892-2655
Toll-free: 800-411-1222
Fax: 301-480-9793
Email:
prpl@mail.cc.nih.gov
Web site:  http://clinicalcenter.nih.gov/

If someone you know is interested in enrolling in a clinical trial, you can find helpful general information on clinical trials at the following ClinicalTrials.gov Web page.
http://clinicaltrials.gov/ct2/info/understand

A tutorial about clinical trials that can also help answer your questions can be found at the following link from the National Library of Medicine:
http://www.nlm.nih.gov/medlineplus/tutorials/cancerclinicaltrials/htm/lesson.htm

Resources on many charitable or special-fare flights to research and treatment sites and low-cost hospitality accommodations for outpatients and family members, as well as ambulance services, are listed on the Web site of the Office of Rare Diseases (ORD), part of the National Institutes of Health.
http://rarediseases.info.nih.gov/Resources.aspx?PageID=8

Last updated: 5/6/2008

References