Fragile X syndrome

What is Fragile X Syndrome?

Fragile X syndrome is the most common form of inherited intellectual disability. It mainly affects males (due to having only one X chromosome), with an incidence of 1 in 4,000, while in females it is 1 in 600.

What are the symptoms?

If the change in this gene is small, the person has no symptoms, but if it is larger, he/she may present: intelligence, emotional and social problems, and speech and language problems. Physically, this pathology may include flat feet, flexible joints and low muscle tone, long face, smooth skin, large ears or forehead with a prominent jaw, and large body size. Some of these manifest at birth, while others may appear well past puberty. Specifically, women with this disorder may have premature menopause or difficulty becoming pregnant. In addition, both women and men may have problems with tremors and poor coordination.

Causes of Fragile X syndrome

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

Can it be prevented?

Counseling can be used if there is a family history, especially if pregnancy is planned.

What is the treatment?

This pathology can be diagnosed with a genetic test. There is no cure, although some of the symptoms can be treated.

See also  TREC