The rare disease that is the protagonist in today’s program is CDKL5 deficiency syndrome, a rare genetic disease caused by alterations in this same gene. This pathology was identified for the first time in 2004, originally thought to be a variant of Rett Syndrome. However, it was recognized as a differentiated disease last year. Mónica de la Torre is the mother of Martina García, a 10-year-old girl who has this CDKL5 deficiency syndrome.
