Your browser does not support javascript:   Search for gard hereSearch for news-and-events here.

Diseases

Genetic and Rare Diseases Information Center (GARD)

MECP2 duplication syndrome


Other Names for this Disease
  • Distal duplication Xq
  • Lubs X-linked mental retardation syndrome (formerly)
  • Mental retardation, X-linked, Lubs type (formerly)
  • MRXSL
  • Telomeric duplication Xq
See Disclaimer regarding information on this site. Some links on this page may take you to organizations outside of the National Institutes of Health.

Treatment

Newline Maker

How might MECP2 duplication syndrome be treated?

Because MECP2 duplication syndrome affects many different systems of the body, medical management is often provided by a team of doctors and other healthcare professionals. Treatment for this condition varies based on the signs and symptoms present in each person. For example, infants with trouble swallowing and/or other feeding difficulties may require a feeding tube. Early developmental interventions may be recommended to help affected children reach their potential. This may include physical therapy, speech therapy and/or occupational therapy. Medications may be prescribed to treat seizures or spasticity. Recurrent infections are usually treated aggressively with appropriate antibiotics.[1][2]

Please speak with a healthcare provider if you have any questions about your personal medical management plan or that of a family member.
Last updated: 7/23/2015

References
  1. Hilde Van Esch, MD, PhD. MECP2 Duplication Syndrome. GeneReviews. October 2014; http://www.ncbi.nlm.nih.gov/books/NBK1284/.
  2. MECP2 Duplication Syndrome. NORD. 2013; https://rarediseases.org/rare-diseases/mecp2-duplication-syndrome/.


GARD Video Tutorial

  • Finding Treatment Information - A video developed by GARD Information Specialists that explains how you can find information about treatment for a rare disease.

    Finding Treatment Information

Management Guidelines

  • GeneReviews provides current, expert-authored, peer-reviewed, full-text articles describing the application of genetic testing to the diagnosis, management, and genetic counseling of patients with specific inherited conditions. Click on the link to view the article on this topic.

Clinical Trials & Research for this Disease

  • ClinicalTrials.gov lists trials that are studying or have studied MECP2 duplication syndrome. Click on the link to go to ClinicalTrials.gov to read descriptions of these studies.
Other Names for this Disease
  • Distal duplication Xq
  • Lubs X-linked mental retardation syndrome (formerly)
  • Mental retardation, X-linked, Lubs type (formerly)
  • MRXSL
  • Telomeric duplication Xq
See Disclaimer regarding information on this site. Some links on this page may take you to organizations outside of the National Institutes of Health.