Quali sono i sintomi della sindrome di Rett?
Quali sono i sintomi della sindrome di Rett?
I principali sintomi compaiono dopo uno sviluppo psicomotorio apparentemente normale e sono rappresentati da arresto della crescita cranica con microcefalia, perdita dell'uso finalizzato delle mani per comparsa di stereotipie tipo “hand washing”, comportamento autistico, perdita della comunicazione, atassia e crisi ...
Come viene la sindrome di Rett?
In genere l'insorgenza della sindrome di Rett è sporadica, ovvero il difetto genetico insorge spontaneamente e non è presente nei genitori sani. Si stima che circa il 95% dei casi di sindrome di Rett classica siano dovuti a mutazioni del gene MECP2, localizzato sul cromosoma X.
Come si cura la sindrome di Rett?
Attualmente non esiste una cura per la sindrome di Rett. La gestione medica mira a fornire sollievo sintomatico ai pazienti attraverso un approccio multidisciplinare.
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.
