What Is Rett Syndrome?

Jeffrey L. Neul, MD, PhD, Professor of Pediatrics, Division of Neurology, Pharmacology, and Special Education at Vanderbilt University Medical Center, gives an overview of Rett syndrome. As Dr. Neul explains, ​​Rett syndrome is a rare progressive neurodevelopmental condition that primarily affects girls. These girls appear to have normal psychomotor development during the first 6 to 18 months of life, followed by a developmental “plateau,” and then rapid regression in language and motor skills. Common symptoms include hand-wringing; fits of screaming and inconsolable crying; autistic features; panic-like attacks; bruxism; episodic apnea and/or hyperpnea; gait ataxia and apraxia; tremors; seizures; and slowed head growth. Rett syndrome is most commonly caused by a sporadic mutation in the MECP2 gene on the X chromosome. The majority of cases are not inherited from a parent. Treatment mainly focuses on reducing specific symptoms of the condition as there is currently no approved treatment or cure for Rett syndrome. However, recently, positive top-line results from a phase 3 study (NCT04181723) of investigational trofinetide for Rett syndrome were announced. For more information about Rett syndrome and other rare neurological disorders, visit checkrare.com/diseases/neurology Rare Discussions is produced by CheckRare, the leading multimedia platform dedicated to advancing education, awareness, and innovation across the rare disease community. Explore additional physician interviews, podcasts, CME activities, and rare disease resources at CheckRare.com. Subscribe to the CheckRare Podcast Network for expert conversations, weekly news, accredited education, and the latest advances across the rare disease community. Part of the CheckRare Podcast Network: Trusted conversations, news, education, and expert insights across the rare disease community.