Search Here

Rett syndrome is a rare genetic disorder that affects brain development, resulting in severe mental and physical disabilities. It primarily occurs in girls, with symptoms usually appearing between 6 months and 1 year of age. Rett syndrome is very rare in boys, and they typically experience more severe symptoms.

Symptoms

Symptoms of Rett syndrome vary widely among patients but often include loss of speech and motor skills, repetitive hand movements such as wringing or clapping, breathing problems, seizures, and scoliosis. Many patients with Rett Syndrome also experience cognitive impairment and developmental delays.

Causes

Rett syndrome is caused by mutations in the MECP2 gene, which is located on the X chromosome. These mutations disrupt the normal function of the gene, leading to the characteristic symptoms of the disorder. In most cases, these mutations occur randomly and are not inherited from parents.

Diagnosis

Diagnosing Rett syndrome can be challenging, as its symptoms can resemble those of other developmental disorders. A diagnosis is typically based on a combination of clinical signs and genetic testing to identify mutations in the MECP2 gene.

Treatment

There is currently no cure for Rett syndrome, so treatment focuses on managing symptoms and improving quality of life. This may include physical therapy, occupational therapy, speech therapy and medications to help manage symptoms such as seizures and breathing difficulties.

Outlook

The outlook for people with Rett syndrome varies depending on the severity of symptoms and the quality of care they receive. While the disorder is lifelong and can be profoundly disabling, many people with Rett Syndrome can lead fulfilling lives with appropriate support and interventions.

Researchers continue to investigate the underlying causes of Rett Syndrome and explore potential treatments. Advances in genetic research offer hope for future therapies that could target the underlying genetic mutations responsible for the disorder.