NASDAQ: AVXL

NASDAQ: AVXL

Rett syndrome

Advancing groundbreaking therapies to tackle the challenges of neurodegenerative and rare conditions.

What is Rett syndrome?

Rett Syndrome (RS) is a rare neurological disorder that primarily affects girls, causing severe cognitive, motor, and communication impairments. It is typically diagnosed in early childhood and is often marked by a loss of previously acquired skills.

On a Deeper Level

Rett Syndrome is a genetic disorder caused by mutations in the MECP2 gene located on the X chromosome. This gene plays a critical role in brain development, and its disruption leads to progressive neurological and developmental challenges. While it primarily affects girls, due to the protective effect of a second X chromosome, boys with MECP2 mutations often experience more severe outcomes. Rett Syndrome typically manifests between 6 and 18 months of age, following a period of apparently normal development. Children with Rett Syndrome gradually lose purposeful hand use and communication abilities and develop repetitive movements such as hand-wringing. The condition also affects breathing, sleep, and mobility, making lifelong care essential.

Signs & Symptoms

The hallmark signs and symptoms of Rett Syndrome include:

  • Loss of acquired skills: Regression in language, motor abilities, and social engagement.
  • Repetitive movements: Hand-wringing, clapping, or other stereotyped behaviors.
  • Breathing abnormalities: Hyperventilation, breath-holding, or irregular breathing patterns.
  • Gait abnormalities: Difficulty walking or loss of mobility over time.
  • Seizures: Occurring in up to 80% of individuals with Rett Syndrome.
  • Other symptoms: Growth retardation, scoliosis, and gastrointestinal issues.

The severity of symptoms can vary widely, but the condition profoundly impacts daily life.

How many are affected by this condition?

Prevalence

Rett Syndrome affects approximately 1 in 10,000 to 15,000 live female births globally. The condition is rare, but its impact is significant, requiring specialized care and comprehensive support for affected individuals and their families.

Insights and Data

  • Rett Syndrome affects approximately 1 in 10,000 to 15,000 live female births worldwide (National Institute of Neurological Disorders and Stroke, 2024).
  • Up to 80% of individuals with Rett Syndrome experience seizures, often requiring complex management strategies (Rett Syndrome Foundation, 2024).
  • Early diagnosis and intervention can improve outcomes, particularly in mobility, communication, and quality of life.

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