Fragile X syndrome

Specialty of Pediatric neurology

What is fragile X syndrome?

Fragile X syndrome is the most common inherited form of intellectual disability. Mainly it affects men (by having only one X chromosome), with an incidence of 1 in 4,000, whereas in women is 1 per 600.

What are the symptoms?

If the change in this gene is small the person has no symptoms, but if it is greater may have: problems, emotional and social intelligence, and problems with speech and language. Physically, this condition may include flat feet, flexible joints and low muscle tone, long face, Swabian skin, ears or a large forehead and prominent jaw, large body size. Some of them are manifested at birth, while others may appear until after puberty. Specifically, women with this disorder may have premature menopause or difficulty becoming pregnant. In addition, both women and men can have problems with tremors and poor coordination.

Causes Fragile X Syndrome

The cause of fragile X syndrome is that the gene that produces the protein needed for brain development does not, or not enough.

Can it be prevented?

You can seek the advice if family history, especially if the pregnancy is planned.

What is the treatment?

This condition can be diagnosed with a genetic test. There is no cure, although they can treat some of its symptoms.

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