| Fragile X is a family of genetic conditions. | | | | and mood swings. |
| Fragile X syndrome also known Martin-Bell | | | | |
| syndrome. It is caused by an abnormality in a | | | | There may also be characteristic facial |
| single gene. Fragile X syndrome caused by | | | | features, such as a long face and large ears. |
| mutation of the FMR1 gene on the X | | | | Other physical features include flat feet and |
| chromosome. It affects approximately 1 in | | | | hyperextensible joints. Fragile X has no |
| every 1,000 to 2,000 male individuals, and | | | | cure. But several treatments are recommended |
| the female carrier frequency may be | | | | for individuals with this disorder, including |
| substantially higher. Males afflicted with | | | | mild medications for behavior problems and |
| this syndrome typically have a moderate to | | | | therapies for speech and language and sensory |
| severe form of intellectual handicap. Females | | | | improvement. Some children with fragile X |
| may also be affected but generally have a | | | | syndrome benefit from medications that |
| mild form of impairment. All males who carry | | | | improve their behavioral symptoms so that |
| the mutation will pass it to their daughters. | | | | they are better able to learn. Some commonly |
| | | | used medications include antidepressants, |
| Females have a 50% chance of passing the | | | | stimulants (such as Ritalin, used for |
| condition to their children. Boys and girls | | | | hyperactivity). |
| can both be affected, but because boys have | | | | |
| only one X chromosome, a single fragile X is | | | | Other medications anti seizure drugs it is a |
| likely to affect them more severely. Girls | | | | most commonly used for behavioral and mood |
| with fragile X syndrome generally have fewer | | | | problems. Genetic counseling may help parents |
| physical signs of the disorder than males, | | | | and families overcome the worry and distress |
| though some have large ears. Fragile | | | | of a positive test. Genetic counseling is |
| X-associated primary ovarian insufficiency | | | | important for women who have premutations and |
| (FXPOI), a problem with ovarian function | | | | full mutations or who are carrying an |
| which can lead to infertility and early | | | | affected child. Local fragile X associations |
| menopause in some female gene carriers. | | | | can assist by providing support by families |
| Symptoms of Fragile X syndrome include | | | | in a similar situation and in referring |
| hyperactivity, attention deficit disorder, | | | | families to professional sources of |
| emotional and behavioural problems, anxiety | | | | counseling. |