HomeHealth TopicsGenetics Birth DefectsRett Syndrome
Back to Genetics Birth Defects
Rett Syndrome
Reviewed by Medicinsk Expert•Last updated: 2026-10-22•Genetics Birth Defects

Rett Syndrome

Rett syndrome is a rare genetic disease that causes developmental and nervous system problems, primarily in girls, often resulting in the loss of previously acquired skills.

Overview

Rett syndrome is a rare genetic disease related to autism spectrum disorder. While babies appear to develop normally at first, they typically stop developing and lose previously acquired skills between 3 months and 3 years of age.

Symptoms

  • Loss of speech
  • Loss of hand movements, such as grasping
  • Compulsive movements, such as hand wringing
  • Balance problems
  • Breathing problems
  • Behavior problems
  • Learning problems or intellectual disability

Treatment and Management

There is no cure for Rett syndrome. Treatment involves managing symptoms through medicines, surgery, and physical and speech therapy. Most individuals with Rett syndrome live into middle age and beyond but typically require lifelong care.

Frequently Asked Questions

Individuals with Rett syndrome often face significant long-term challenges including scoliosis (curvature of the spine), which may require surgical correction, and respiratory abnormalities such as hyperventilation or apnea. Seizures are also common and may require medication management. Additionally, gastrointestinal issues like constipation and reflux are frequent. Management involves a multidisciplinary approach including orthopedic surgery, neurology, and physical therapy to maintain mobility, prevent joint contractures, and ensure proper nutrition and respiratory support.
Most cases of Rett syndrome are caused by spontaneous (de novo) mutations in the MECP2 gene, meaning they are not inherited from a parent. However, in a small percentage of cases, the mutation is inherited from a carrier mother. Genetic counseling is recommended for parents of a child with Rett syndrome to determine if the mutation is inherited. If a parent is a carrier, the risk of recurrence in future pregnancies is 50%. Genetic testing can help clarify the inheritance pattern and guide family planning decisions.
While both conditions can involve social communication challenges, Rett syndrome is characterized by a specific pattern of developmental regression where a child who initially develops normally loses previously acquired skills, particularly purposeful hand use and speech, typically between 6 and 18 months of age. Autism spectrum disorder generally does not involve this distinct phase of regression in motor skills. Definitive diagnosis often relies on genetic testing for mutations in the MECP2 gene, which is present in the majority of classic Rett syndrome cases, whereas autism is a broader spectrum with diverse genetic and environmental factors.
Physical therapy is crucial in maintaining muscle strength, flexibility, and range of motion, especially as the disease progresses and muscle stiffness (spasticity) or contractures develop. Therapists work on preventing joint deformities, improving posture, and managing scoliosis through bracing or exercises. While therapy cannot reverse the loss of motor skills, it helps maximize functional independence, reduces pain, and improves the quality of life by keeping the body as mobile and comfortable as possible throughout the individual's life.
Source: MedlinePlus, National Library of Medicine

MedlinePlus brings together authoritative health information from the National Library of Medicine (NLM), the National Institutes of Health (NIH), and other government agencies and health-related organizations.

kontakt@hittavard.se

Ⓒ 2024. Alla rättigheter förbehålls av juxt ab

Sök
Om ossVillkor och policyVanliga frågorKontakta oss