Problem

Rett syndrome

Nature:

Rett syndrome (RTT) is a genetic brain disorder that typically becomes apparent after 6 to 18 months of age in females. Symptoms include problems with language, coordination, and repetitive movements. Often there is slower growth, problems walking, and a smaller head size. Complications can include seizures, scoliosis, and sleeping problems. Those affected, however, may be affected to different degrees.

Rett syndrome is due to a genetic mutation of the MECP2 gene. This gene occurs on the X chromosome. Typically it develops as a new mutation, with less than one percent of cases being inherited from a person's parents. It occurs almost exclusively in girls. Boys who have a similar mutation typically die shortly after birth. Diagnosis is based on symptoms and can be confirmed with genetic testing.

There is no known cure for Rett syndrome. Treatment is directed at improving symptoms. Anticonvulsants may be used to help with seizures. Special education, physiotherapy, and braces may also be useful. Many people with the condition live into middle age.

The condition affects about 1 in 8,500 females. Andreas Rett, a pediatrician in Vienna, first described the condition in 1966. As his writings were in German, they did not become widely known in the English-speaking world. Bengt Hagberg, a Swedish pediatrician, published an English article in 1983 and named the condition after Rett. In 1999, Lebanese-American physician Huda Zoghbi discovered the mutation that causes the condition.

Values:
Syndrome
Problem Type:
G: Very specific problems
Subject(s):
Medicine Pathology
Date of last update
02.07.2018 – 21:48 CEST