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

Diseases

Genetic and Rare Diseases Information Center (GARD)

Print friendly version

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.

Overview

What is Rett syndrome?

What causes Rett syndrome?

Is Rett syndrome inherited?

What is Rett syndrome?

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

What causes Rett syndrome?

Rett syndrome is typically caused by changes (mutations) in the MECP2 gene. This gene provides instructions for making a protein (MeCP2) needed for the development of the nervous system and normal brain function. Mutations in the MECP2 gene that cause Rett syndrome can change the MeCP2 protein or result in the production of too little protein, which appears to disrupt the normal function of neurons and other cells in the brain.

Several conditions caused by changes in other genes (such as FOXG1 syndrome) have overlapping signs and/or symptoms of Rett syndrome. These conditions were once thought to be variant forms of Rett syndrome, but are now usually considered to be separate disorders.[2]
Last updated: 8/6/2014

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.[3]
Last updated: 12/8/2011

References
  1. John Christodoulou and Gladys Ho. MECP2-Related Disorders. GeneReviews. http://www.ncbi.nlm.nih.gov/books/NBK1497/. Accessed 8/4/2014.
  2. Rett syndrome. Genetics Home Reference. December, 2013; http://ghr.nlm.nih.gov/condition/rett-syndrome. Accessed 8/6/2014.
  3. Rett syndrome. Genetics Home Reference Web site. 2011; http://ghr.nlm.nih.gov/condition=rettsyndrome. Accessed 12/8/2011.


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.