Este síndrome es una enfermedad rara causada por una mutación en el gen Syngap1. Fue diagnosticado por primera vez en 2009 por el Dr. Michaud en el Hospital St. Justine de Montreal, y afecta a más de 1.000 casos a nivel mundial, de los cuales 38 residen aquí en España.
Este gen Syngap1 (6p.21.32) codifica una proteína con el mismo nombre que resulta crítica para el desarrollo cognitivo y para una correcta sinapsis (las sinapsis son las conexiones entre las neuronas o células del cerebro, sin las cuales no podríamos procesar información). Las mutaciones nocivas en este gen reducen la cantidad de proteínas SYNGAP1 funcionales, lo que provoca un retraso madurativo general.
La mayoría de las mutaciones SYNGAP1 no se detectan en las pruebas genéticas básicas. La mejor forma de diagnosticar las mutaciones SYNGAP1 es la secuenciación del genoma.
Actualmente no existe una cura o tratamiento específico para esta enfermedad, más allá de las distintas terapias (fisioterapia, terapia ocupacional, logopedia, equinoterapia, etc.), por lo que la investigación en este campo es imprescindible.
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