Fragile X syndrome Detailed Information

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