Understanding Rett Syndrome
Rett syndrome is a rare neurological disorder caused by genetic mutations that disrupt brain development, primarily affecting girls. Explore this page to learn the basics of Rett syndrome, including its causes, symptoms, and how it affects individuals and their families.
What is Rett syndrome?
Rett syndrome (RTT) is a rare and devastating neurodevelopmental disorder that impacts nearly every aspect of an individual’s life, including their ability to speak, walk, eat, and even breathe. Symptoms can begin as early as 6 months old when parents begin to see their child miss development milestones and lose abilities they had already gained.
Rett syndrome is not a degenerative disorder. Barring illness or complications, individuals with Rett can live into adulthood and beyond, but require lifelong care.
What causes Rett syndrome?
Rett syndrome is a genetic disorder, caused by a spontaneous pathogenic variant—or mutation—in a gene called MECP2 that is located on the X chromosome. This gene is important for brain development and for activating and deactivating other gene functions. When the MECP2 gene does not function properly, it can cause issues throughout the entire body.
These mutations usually occur spontaneously and are typically not inherited, making Rett syndrome a sporadic genetic condition. They result from random changes in the genetic code that happen around the time of conception. Importantly, these mutations are not caused by anything the parents did or didn’t do.
What are the symptoms of Rett syndrome?
Every individual with Rett syndrome is unique and so are their symptoms. Symptoms most often begin with a period of regression between 6 and 18 months of age, with various symptoms then progressing over time, including:
How is Rett syndrome diagnosed?
Rett syndrome is considered a clinical diagnosis. Diagnosis involves a clinical evaluation by a doctor, genetic testing, and observing early developmental signs in infancy based on a list of diagnostic criteria created by Rett clinical experts.
Early diagnosis is essential for effective management and support. Unfortunately, individuals often receive incorrect or delayed diagnoses because in its early stages, RTT shares many clinical symptoms with other, more common neurological and developmental disorders like autism, cerebral palsy, and epilepsy.
How is Rett syndrome treated?
Currently, there is one FDA-approved treatment specifically for Rett syndrome available in the United States and Canada. Most care strategies focus on symptom management through a comprehensive, multidisciplinary approach to enhance quality of life.
There is currently no cure for Rett syndrome.
Who is affected by Rett syndrome?
Any racial or ethnic group can experience Rett syndrome. While RTT most commonly occurs in females (approximately 1 in 10,000 births worldwide), males can have Rett too, often experiencing earlier and more severe symptoms.
By the numbers
Rett Syndrome at a Glance
female births will be diagnosed, and even fewer males
of cases are inherited or passed from one generation to another
cases of Rett syndrome per year worldwide
FDA-approved treatment specifically for Rett syndrome
individuals, approximately, living with Rett in the U.S.
in age when first diagnosed with Rett syndrome
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