Alan Percy, MD, Pediatric Neurologist at University of Alabama at Birmingham, describes the history of Rett syndrome.
Rett syndrome is a neurodevelopmental condition primarily affecting girls. Patients with the disease appear to have normal psychomotor development during the first 6 to 18 months of life. A developmental “plateau” follows, and then rapid regression in language and motor skills. Additional signs and symptoms may include:
- Repetitive, stereotypic hand movements
- Fits of screaming and inconsolable crying
- Autistic features
- Panic-like attacks
- Teeth grinding
- Episodic apnea and/or hyperpnea
- Gait ataxia and apraxia
- Tremors
- Seizures
- Slowed head growth
Classic Rett syndrome is most commonly caused by genetic changes in the MECP2 gene and is usually inherited in an X-linked dominant manner.
As Dr. Percy explains, Rett syndrome was first described in the mid-1900s and was believed to only affect females, caused by X-linked genetic mutations. The underlying cause of Rett syndrome, mutations in the MECP2 gene, was not identified until 1999. Since then, researchers have identified over 300 genetic variations. These variations, paired with genetic background and environmental factors, cause Rett syndrome to be variable in its clinical appearance and manifestation.
Dr. Percy also describes the effects that advancements in the treatment for Rett syndrome have had on patients. Patients now have shown significant improvements compared to what was described in the 1900s thanks to a better understanding of the disease and improvements in how we manage these patients.
To learn more about Rett syndrome, and other rare neurological disorders, visit https://checkrare.com/diseases/neurology-nervous-system-diseases/
