Posted on June 10, 2002 at 4:48 p.m.

BIRMINGHAM, AL — Actress Julia Robert’s May 9th appearance before Congress has jump-started interest in the little known neurodevelopmental disorder Rett Syndrome. UAB pediatric neurologist Dr. Alan Percy, one of the leading experts in the country on the disease, testified before the congressional sub-committee on labor, health and human services with Roberts. Percy says that while remarkable progress has been made in understanding Rett Syndrome since it was first described in 1966, the disease is still very much a mystery.

“We have discovered mutations in one gene that is responsible for Rett Syndrome in about 80 percent of patients,” says Percy. “In the 16 years since it’s description, a relatively short period of time in science, we’ve learned a great deal about the disease. But there is still no cure and treatments focus only on managing the symptoms to make patients more comfortable.”

Percy specializes in managing the disease through UAB’s Rett Syndrome clinic, one of only three comprehensive clinics dedicated to the disease in the United States. Patients from around the country travel to UAB for treatment and evaluation.

Rett syndrome is a childhood disorder characterized by normal early development followed by loss of purposeful use of the hands, distinctive hand movements, slowed brain and head growth, gait abnormalities, seizures, and mental retardation. It affects females almost exclusively. Rett syndrome affects one in every 10,000 to 15,000 live female births. It occurs in all racial and ethnic groups worldwide. Before the symptoms begin, the child appears to grow and develop normally. Then, gradually, mental and physical symptoms appear. Loss of muscle tone is usually the first symptom.

As the syndrome progresses, the child loses purposeful use of her hands and the ability to speak. Other early symptoms may include problems crawling or walking and diminished eye contact. The loss of functional use of the hands is followed by compulsive (stereotypic) hand movements such as wringing and washing. Another symptom, apraxia — the inability to perform motor functions — is perhaps the most severely disabling feature of Rett syndrome, interfering with every body movement, including eye gaze and speech.