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
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.
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.
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.