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