Fragile X
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PRESENTATION OUTLINE
FRAGILE X
BY JOSEPH AND WILLIAM
MEDICAL NAME:
- Fragile X Syndrome
AND ITS COMMON NAME:
- FXS-Martin Bell syndrome * fra(X) syndrome * FRAXA syndrome * FXS * marker X syndrome * Martin-Bell syndrome * X-linked mental retardation and macroorchidism
SITE IMPACTED:
- Mutations in the FMR1 gene cause fragile X syndrome.
- Fragile X syndrome is inherited in an X-linked dominant pattern. A condition is considered X-linked if the mutated gene that causes the disorder is located on the X chromosome, one of the two sex chromosomes
SITE IMPACTED:
- Nearly all cases of fragile X syndrome are caused by a mutation in which a DNA segment, known as the CGG triplet repeat, is expanded within the FMR1 gene. Normally, this DNA segment is repeated from 5 to about 40 times. In people with fragile X syndrome, however, the CGG segment is repeated more than 200 times. The abnormally expanded CGG segment turns off (silences) the FMR1gene, which prevents the gene from producing FMRP.
SITE IMPACT
- Loss or a shortage (deficiency) of this protein disrupts nervous system functions and leads to the signs and symptoms of fragile X syndrome.
SYMPTOMS OF FRAGILE X
- Symptoms include delays in talking, anxiety, and hyperactive behavior. Some people have seizures.
SYMPTOMS
- Physical features might include large ears, a long face, a prominent jaw and forehead, and flat feet.
Photo by fhwrdh
IS THERE A CURE/TREATMENT?
- Behavior Therapy(A therapy focused on modifying harmful behaviors associated with psychological distress.)
- Sedative, Muscle relaxant, etc.
ANECDOTLES
- Mary Jane Clark, author, her son has Fragile X, she is a Fragile X carrier, and her son is the grandson of Mary Higgins Clark, author
