Che cos'è sindrome di Rett?
Che cos'è sindrome di Rett?
La sindrome di Rett (RTT) è una rara patologia neurologica dello sviluppo, che colpisce prevalentemente soggetti di sesso femminile. La malattia congenita interessa il sistema nervoso centrale, ed è una delle cause più diffuse di grave o gravissimo deficit cognitivo.
Quale dei seguenti codici identifica la sindrome di Rett?
Nella maggior parte dei casi, la sindrome di Rett (RTT) è causata da mutazioni sporadiche nel gene MECP2, localizzato sulla parte distale del cromosoma X (precisamente nella zona Xq28), deputato alla produzione di una proteina omonima.
What are facts about Rett syndrome?
- Rett syndrome was first written about by Andrew Rett in 1965,but it was recognized as a condition only in 1983.
- Although Rett Syndrome is a genetic disorder,less than 1 percent of Rett syndrome is inherited.
- Boys with Rett syndrome usually do not survive.
- Rett syndrome can vary in severity from person to person.
What is the history of Rett syndrome?
- History of Rett Syndrome: Rett syndrome was first noticed by Dr. Andreas Rett in his patients, in the year 1954 in Vienna, Austria. He compared the clinical as well as the developmental histories of his patients who seemed to have the same symptoms and behavior, and he found that they had a similar history.
What is another name for Rett syndrome?
- Many researchers now consider Rett syndrome as part of a spectrum of disease relating to mutations of the MECP2 gene. This spectrum, sometimes referred to as MECP2-related disorders, includes classic Rett syndrome, variant Rett syndrome, MECP2-related severe neonatal encephalopathy, and PPM-X syndrome.
