Constance Smith-Hicks, MD, PhD, Neurologist and Director of the Center for Synaptic Disorders at the Kennedy Krieger Institute, gives a detailed overview of Rett syndrome.
As Dr. Smith-Hicks explains, Rett syndrome is a rare progressive neurodevelopmental condition that primarily affects females. These individuals appear to have develop normally during the first 6 to 18 months of life, followed by a developmental “plateau,” and then rapid regression in language and motor skills as synaptic connections deteriorate over time. This complex disease is typically caused by a genetic mutation on the MECP2 gene.
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. Most patients with Rett syndrome live into adulthood but require round-the-clock care.
The U.S. Food and Drug Administration (FDA) recently approved trofinetide to treat individuals with Rett syndrome who are two years of age and older. This is the first and only approved targeted therapy for this disease and became available for prescription in the United States in April 2023.
For more information about Rett syndrome, visit our Rett Syndrome Learning page here: https://checkrare.com/rett-syndrome/
