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MECP2 Duplication Syndrome

National Organization for Rare Disorders, Inc.

Important

It is possible that the main title of the report MECP2 Duplication 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

  • trisomy Xq28
  • Xq28 duplication syndrome

Disorder Subdivisions

  • None

General Discussion

Summary

MECP2 duplication syndrome is a rare genetic neurodevelopmental disorder characterized by a wide variety of symptoms including low muscle tone (hypotonia), potentially severe intellectual disability, developmental delays, recurrent respiratory infections, speech abnormalities, seizures, and progressive spasticity, a condition characterized by muscle stiffness that is worsened with movement and can be associated with involuntary muscle spasms. Additional symptoms can occur. MECP2 duplication syndrome is caused by the duplication of genetic material on a specific region on the X chromosome (Xq28). This region includes the MECP2 gene and typically several adjacent genes. In most cases, the MECP2 duplication is inherited in an X-linked manner; in rare cases, the duplication may occur randomly for no apparent reason (de novo duplication). The disorder predominantly affects males, but females who carry the duplication on one X chromosome (heterozygotes) may exhibit some signs of the disorder. In specific, rare cases, females can develop a severe form of the disorder similar to males.



Introduction

One of the first descriptions in the medical literature of this disorder as a distinct neurological entity was by Lubs et al. in 1999. The discovery that microduplications involving the MECP2 gene on the X chromosome cause a distinct neurological disorder (now known as MECP2 duplication syndrome) was first reported in the medical literature in 2005. Mutations of the MECP2 gene are known to cause Rett syndrome, a neurological disorder that primarily affects females. These disorders are sometimes grouped together as MECP2-related disorders.

Resources

The Arc

1825 K Street NW, Suite 1200

Washington, DC 20006

Tel: (202)534-3700

Fax: (202)534-3731

Tel: (800)433-5255

TDD: (817)277-0553

Email: info@thearc.org

Internet: http://www.thearc.org



International Rett Syndrome Foundation

4600 Devitt Dr.

Cincinnati, OH 45246

USA

Tel: (800)818-7388

Email: irsa@rettsyndrome.org

Internet: http://www.rettsyndrome.org



Epilepsy Foundation

8301 Professional Place

Landover, MD 20785-7223

Tel: (866)330-2718

Fax: (877)687-4878

Tel: (800)332-1000

TDD: (800)332-2070

Email: ContactUs@efa.org

Internet: http://www.epilepsyfoundation.org



NIH/National Institute of Neurological Disorders and Stroke

P.O. Box 5801

Bethesda, MD 20824

Tel: (301)496-5751

Fax: (301)402-2186

Tel: (800)352-9424

TDD: (301)468-5981

Internet: http://www.ninds.nih.gov/



New Horizons Un-Limited, Inc.

811 East Wisconsin Ave

P.O. Box 510034

Milwaukee, WI 53203

USA

Tel: (414)299-0124

Fax: (414)347-1977

Email: horizons@new-horizons.org

Internet: http://www.new-horizons.org



Genetic and Rare Diseases (GARD) Information Center

PO Box 8126

Gaithersburg, MD 20898-8126

Tel: (301)251-4925

Fax: (301)251-4911

Tel: (888)205-2311

TDD: (888)205-3223

Internet: http://rarediseases.info.nih.gov/GARD/



Child Neurology Foundation

2000 West 98th Street

Bloomington, MN 55431

USA

Tel: (952)641-6100

Fax: (952)881-6276

Tel: (877)263-5430

Email: jstone@childneurologyfoundation.org

Internet: http://www.childneurologyfoundation.org



Medical Home Portal

Dept. of Pediatrics

University of Utah

P.O. Box 581289

Salt Lake City, UT 84158

Tel: (801)587-9978

Fax: (801)581-3899

Email: mindy.tueller@utah.edu

Internet: http://www.medicalhomeportal.org



For a Complete Report

This is an abstract of a report from the National Organization for Rare Disorders (NORD). A copy of the complete report can be downloaded free from the NORD website for registered users. The complete report contains additional information including symptoms, causes, affected population, related disorders, standard and investigational therapies (if available), and references from medical literature. For a full-text version of this topic, go to MyD-H, the Dartmouth-Hitchcock patient portal. You must be a registered MyD-H user for the Lebanon, Manchester, or Nashua locations to access this site.

The information provided in this report is not intended for diagnostic purposes. It is provided for informational purposes only. NORD recommends that affected individuals seek the advice or counsel of their own personal physicians.

It is possible that the title of this topic is not the name you selected. Please check the Synonyms listing to find the alternate name(s) and Disorder Subdivision(s) covered by this report

This disease entry is based upon medical information available through the date at the end of the topic. Since NORD's resources are limited, it is not possible to keep every entry in the Rare Disease Database completely current and accurate. Please check with the agencies listed in the Resources section for the most current information about this disorder.

For additional information and assistance about rare disorders, please contact the National Organization for Rare Disorders at P.O. Box 1968, Danbury, CT 06813-1968; phone (203) 744-0100; web site www.rarediseases.org or email orphan@rarediseases.org

Last Updated:  1/28/2013

Copyright  2013 National Organization for Rare Disorders, Inc.

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