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Rett Syndrome

Abstract

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NORD is very grateful to Jeffrey L. Neul, MD, PhD, Anthony and Cynthia Petrello Scholar; Duncan Neurological Research Institute at Texas Children's, Medical Co-Director, Blue Bird Circle Rett Center; Associate Professor, Depts. Of Pediatrics, Neurology, Molecular and Human Genetics, Neuroscience, Molecular Physiology and Biophysics, Programs in Translational Biology and Molecular Medicine and Developmental Biology, Baylor College of Medicine, for assistance in the preparation of this report.

Synonyms of Rett Syndrome

  • classic Rett syndrome
  • RTT
  • variant (atypical) Rett syndrome

Disorder Subdivisions

  • No subdivisions found.

General Discussion

Summary
Rett syndrome is a progressive neurodevelopmental disorder that almost exclusively affects females. Only in rare cases are males affected. Infants with Rett syndrome generally develop normally for about 7 to 18 months after birth. At this point, they lose previously acquired skills (developmental regression) such as purposeful hand movements and the ability to communicate. Additional abnormalities occur including impaired control of voluntary movements (ataxia) and the development of distinctive, uncontrolled hand movements such as hand clapping or rubbing. Some children also have slowing of head growth (acquired microcephaly), Affected children often develop autistic-like behaviors, breathing irregularities, feeding and swallowing difficulties, growth retardation, and seizures. Most Rett syndrome cases are caused by identifiable mutations of the MECP2 gene on the X chromosome and can present with a wide range of disability ranging from mild to severe. The course and severity of Rett syndrome is determined by the location, type and severity of the MECP2 mutation and the process of random X-inactivation (see Causes section below). Therefore, two girls of the same age with the same mutation can appear significantly different.

Introduction
Rett syndrome was first described in the medical literature by an Austrian physician named Andreas Rett in 1960s. Many researchers now consider Rett syndrome as part of a spectrum of disease relating to mutations of the MECP2 gene. This spectrum, sometimes referred to as MECP2-related disorders, includes classic Rett syndrome, variant Rett syndrome, MECP2-related severe neonatal encephalopathy, and PPM-X syndrome. Another disorder, MECP2 duplication syndrome, has recently been described in the medical literature. This disorder is caused by duplicated material involving the MECP2 gene on the X chromosome.

Organizations related to Rett Syndrome

NORD offers an online community for this rare disease. RareConnect was created by EURORDIS (European Rare Disease Organisation) and NORD (National Organization for Rare Disorders) to provide a safe space where individuals and families affected by rare diseases can connect with each other, share vital experiences, and find helpful information and resources. You can view these international, rare disease communities at www.rareconnect.org.

The information in NORD’s Rare Disease Database is for educational purposes only. It should never be used for diagnostic or treatment purposes. If you have questions regarding a medical condition, always seek the advice of your physician or other qualified health professional. NORD’s reports provide a brief overview of rare diseases. For more specific information, we encourage you to contact your personal physician or the agencies listed as “Resources” on this report.

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