Portal de Totana
www.portaldetotana.com
Totana City Council joins today to the celebration of the European Day of Fragile X Syndrome providing its support to patients and families, a pathology of genetic origin and rare;
and it is one of the rare diseases with the highest prevalence in the Region of Murcia, with around 300 people diagnosed.
Fragile Syndrome A genetic disease that causes fundamentally developmental problems including learning disabilities and mental retardation, in fact, is the most common inherited form of mental retardation in men and one of the most important in women.
The mayor, Andrés García, and the first deputy mayor, Juan José Cánovas, staged, on behalf of the Municipal Corporation, together with the president of the Association of Rare Diseases D'Genes, Juan Carrión, his institutional support for this commemoration .
The main objective of the celebration of this day is to sensitize society around the different challenges that people who live with this pathology must face.
As well as disclosing the relevant clinical aspects around its cause, diagnosis and treatment.
Fragile X Syndrome is a rare disease characterized by an intellectual deficit between mild and severe, which may be associated with behavioral disorders and distinctive physical features.
It has an estimated prevalence in the population of 1 individual per 4,000 / 5,000 and occurs in both men and women.
In the case of men, the disease appears in childhood with a delay in development (motor and / or language).
While in women, intellectual and behavioral disorders are mild and usually consist of emotional and learning problems.
The physical features are mild in both sexes and may include: narrow and elongated face, forehead and prominent ears, hyperextensible joints in the fingers, flat feet, and macroorchidism (excessive testicular development).
Source: Ayuntamiento de Totana / Totana.com
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