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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
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Overview

Rett syndrome is a progressive, neuro-developmental condition that primarily affects girls. Affected girls appear to have normal psychomotor development during the first 6 to 18 months of life, followed by a developmental "plateau," and then rapid regression in language and motor skills. Additional signs and symptoms may include repetitive, stereotypic hand movements; fits of screaming and inconsolable crying; autistic features; panic-like attacks; teeth grinding (bruxism); episodic apnea and/or hyperpnea; gait ataxia and apraxia; tremors; seizures; and slowed head growth. Some people have an atypical form of Rett syndrome that may be more mild or more severe. Classic Rett syndrome is most commonly caused by mutations in the MECP2 gene and is usually inherited in an X-linked dominant manner. The vast majority of cases are not inherited from a parent, but are due to a new mutation in the affected person. Treatment mainly focuses on the specific signs and symptoms of the condition.[1]
Last updated: 8/4/2014

References

  1. John Christodoulou and Gladys Ho. MECP2-Related Disorders. GeneReviews. http://www.ncbi.nlm.nih.gov/books/NBK1497/. Accessed 8/4/2014.
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Basic Information

In Depth Information

  • Medscape Reference provides information on this topic. Click on the link to view this information. You may need to register to view the medical textbook, but registration is free.
  • The Online Mendelian Inheritance in Man (OMIM) is an catalog of human genes and genetic disorders. Each entry has a summary of related medical articles. It is meant for health care professionals and researchers. OMIM is maintained by Johns Hopkins University School of Medicine. 
  • PubMed is a searchable database of medical literature and lists journal articles that discuss Rett syndrome. Click on the link to view a sample search on this topic.

Insurance Issues

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.