Rett Syndrome: Symptoms, Causes, Diagnosis and Care
Author: Ian C. Langtree - Writer/Editor for Disabled World (DW)
Published: 2009/04/05 - Updated: 2026/06/11
Publication Type: Informative
Contents: Synopsis - Definition - Introduction - Main - Insights, Updates - Related Publications
Synopsis: This information examines Rett syndrome, one of the MECP2 gene-related disorders, a progressive neurologic disease that affects girls following an apparently normal birth and typical development through the first six to 18 months of life. It draws on established clinical diagnostic criteria and molecular genetics to explain how the condition develops, why purposeful hand use is lost and replaced by repetitive movements, and how diagnosis is confirmed through testing of the MECP2 gene. By outlining recognized characteristics, survival patterns, and current symptom-focused management approaches, the page offers a clear and practical reference for parents, caregivers, seniors, and people with disabilities seeking to understand the condition and the support that affected families may need.
At a Glance
- 1 - The U.S. Social Security Administration has designated Rett syndrome a Compassionate Allowance, which expedites the processing of a disability claim
- 2 - Molecular genetic testing identifies MECP2 mutations in roughly 80 percent of females with the condition, and seizures occur in up to 90 percent of those affected
- 3 - Most females survive into adulthood, though the rate of sudden, unexplained death - possibly linked to cardiac arrhythmias and prolonged QT intervals - is notably higher than in peers of similar age
- Topic Definition: Rett Syndrome
Rett syndrome is a rare, progressive neurologic disorder that almost exclusively affects girls, marked by an apparently normal birth and typical early development for roughly six to 18 months, followed by a period of stagnation and then rapid regression of language and motor skills. Its defining feature is the loss of purposeful hand use, which is replaced by repetitive, stereotyped hand movements, and it is most often caused by mutations in the MECP2 gene. Additional features can include autistic-like behaviors, breathing irregularities, seizures, gait problems, and acquired microcephaly, with diagnosis based on established clinical criteria supported by molecular testing of the MECP2 gene.
Introduction
Rett Syndrome alternate names: MECP2 Related Disorder, RTT, RTS.
Rett Syndrome, one of the MECP2 gene-related disorders, is a progressive neurologic disease in girls characterized by normal birth and normal psychomotor development during the first six to 18 months of life.
The U.S. Social Security Administration (SSA) has included Rett Syndrome as a Compassionate Allowance to expedite a disability claim.
Main Content
The girls enter a short period of developmental stagnation followed by rapid language and motor skills regression.
The hallmark of the disease is the loss of purposeful hand use and its replacement with repetitive, stereotyped hand movements. Screaming fits and inconsolable crying are common by age 18-24 months.
Additional characteristics include autistic features, panic-like attacks, bruxism (teeth grinding), episodic apnea and hyperpnea, gait ataxia and apraxia, tremors, and acquired microcephaly. After this period of rapid deterioration, the disease becomes relatively stable, though girls will likely develop dystonia and foot and hand deformities as they grow older.
Seizures occur in up to 90% of affected females.
Females with classic Rett syndrome typically survive into adulthood, but the incidence of sudden, unexplained death (which may be caused by cardiac arrhythmias) is significantly higher than in controls of similar age.
The diagnosis of Rett syndrome rests on clinical diagnostic criteria established for the syndrome and molecular testing of the MECP2 gene. Molecular genetic testing identifies MECP2 mutations in approximately 80% of females with Rett syndrome.
Currently, there is no cure for RTT. Management is mainly symptomatic, focusing on optimizing the individual's abilities and providing psychosocial support for the family.
Females with Rett syndrome may survive into adulthood but in a very dependent state.
The sudden, unexplained death incidence is significantly higher than in controls of similar age. It may partly be caused by the higher incidence of longer corrected QT intervals, T-wave abnormalities, and reduced heart rate variability.
Insights, Analysis, and Developments
Editorial Note: While there is still no cure for Rett syndrome, a clearer understanding of its genetic basis and predictable clinical course has given families and clinicians firmer ground to stand on. Early recognition of the regression phase, careful monitoring of cardiac and seizure risks, and consistent symptom-focused care can meaningfully shape quality of life for affected girls and the people who love them - and continued research into the MECP2 gene keeps the prospect of better treatments within reach.
Author Credentials: Ian is the founder and Editor-in-Chief of Disabled World, a leading resource for news and information on disability issues. With a global perspective shaped by years of travel and lived experience, Ian is a committed proponent of the Social Model of Disability-a transformative framework developed by disabled activists in the 1970s that emphasizes dismantling societal barriers rather than focusing solely on individual impairments. His work reflects a deep commitment to disability rights, accessibility, and social inclusion. To learn more about Ian's background, expertise, and accomplishments, visit his full biography.