Rett Syndrome

Rett syndrome is a rare neurodevelopment characterized by involuntary hand movements and loss of achieved skills.

Key characteristics and symptoms of Rett syndrome

Key Characteristics

Involuntary hand movements: Hand wringing, hand to mouth, and hand washing are very characteristic features of Rett syndrome. They are often a critical clue that leads physicians to suspect Rett Syndrome.

Loss of acquired skills: The regression of skills such as speaking, purposeful hand use, and walking is a strong indicator of Rett syndrome.

Primarily affects females

Other Common Symptoms
  • Seizures
  • Feeding difficulty
  • Low muscle tone
  • Difficulty sleeping
  • Drooling
  • Constipation
  • Scoliosis
  • Behavior problems
  • Intellectual disability
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How is Rett syndrome diagnosed?

A diagnosis of Rett syndrome is confirmed through genetic testing that identifies a mutation in the MECP2 gene. If a patient does not have access to genetic testing, or the genetic testing results are inconclusive, doctors can diagnose Rett syndrome by examining the patient and assessing symptoms.

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How is Rett syndrome treated?

Currently, there is no cure for Rett syndrome. Patients are treated for their symptoms, not for the underlying cause of the disease. Prescription medications and a variety of therapies help to alleviate symptoms. There are currently companies investigating treatments for Rett Syndrome including possible gene therapies.

AmbitCare can help you understand how rare disease might be part of your story.

The average person with a rare disease sees 7.3 specialists over a span of 5-7 years before receiving an accurate diagnosis. AmbitCare Ambassadors provide free services including listening to understand your challenges, guiding you on potential next steps, and recommending resources.

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Have additional questions? Contact an AmbitCare Ambassador by phone at 508-203-6891 or by email at today.

Our hours of operation are Monday-Friday, 9-5pm ET. An AmbitCare Ambassador will typically respond within 1-2 business days.

* Please note that while AmbitCare Ambassadors can help you better understand what resources are available for families with loved ones suffering from seizures and developmental delays, they are not licensed medical providers and thus can neither diagnose any disease or disorder nor endorse or recommend any specific medical treatments.

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