Alan Percy, M.D., a leading clinician and researcher in Rett syndromeThe University of Alabama at Birmingham Civitan Rett Syndrome Clinic has received the Center of Excellence award from Rettsyndrome.org, a leading advocacy organization for patients and families affected by Rett syndrome.
The award will be presented at a reception Friday, Sept. 8, at 4 p.m. at the Children’s of Alabama Performance Area on the second floor of the Benjamin Russell Hospital for Children, 1600 Seventh Ave. South.
Rett syndrome is a neurological disorder seen almost exclusively in females, affecting one in every 10,000-23,000 individuals. It is found in all racial and ethnic groups worldwide.
Alan Percy, M.D., director of the UAB Civitan Rett Syndrome Clinic, is an internationally renowned researcher and clinician in Rett syndrome. When at Baylor College of Medicine in the 1980s, Percy was one of the first physicians in the United States to identify the condition.
In 1999, a decade long search for the genetic basis for Rett syndrome succeeded in identifying mutations in the MECP2 gene in girls fulfilling the criteria for the syndrome. This discovery allowed confirmation of clinical diagnoses and the development of genotype-phenotype correlations. Research at UAB is now examining the molecular genetics of children who do not meet all diagnostic criteria for RS, but who are near the border zones of clinical involvement.
Patients with Rett syndrome tend to have small hands and feet and a deceleration of the rate of head growth. Repetitive stereotyped hand movements, such as wringing and/or repeatedly putting hands into the mouth, are common. Gastrointestinal disorders and seizures are also frequently seen. Patients typically have no verbal skills, and about 50 percent of affected individuals do not walk.
Survival into adulthood is now expected barring other illnesses or serious physical complications. Girls and women with Rett syndrome can be expected to demonstrate a full range of emotions and enjoy satisfying social, recreational and educational experiences at home and in the community.
Rettsyndrome.org is a national organization working to accelerate research to cure Rett syndrome and empower families with information, knowledge and connectivity. Since 1998, Rettsyndrome.org has invested more than $41 million in Rett syndrome research.