Fragile+X+Syndrome

**Description: //Fragile X syndrome is the most common inherited form of mental retardation currently known.//** In normal individuals, the FMR1 gene is transmitted stably from parent to child. However, in Fragile X individuals, there is a mutation in one end of the gene (the 5' untranslated region), consisting of an amplification of a CGG repeat. Patients with fragile X syndrome have 200 or more copies of the CGG motif. The huge expansion of this repeat means that the FMR1 gene is not expressed, so no FMR1 protein is made. Although the exact function of FMR1 protein in the cell is unclear, it is known that it binds RNA. This therefore causes //**Fragile X Syndrome**// to appear in certain indivuals. 

**Chromosome location:** //Fragile X syndrome is a defect in the X chromosome and its effects are seen more frequently in males than females.//

**Treatment:**

//**At this time, there is no cure for fragile X syndrome.**// However, speech and language therapy, occupational therapy and behavioral therapies are helpful in addressing many of the behavioral, and cognitive issues in fragile X syndrome. In addition, medical intervention including medications can be helpful for aggression, anxiety, hyperactivity and poor attention span. Because the impact of fragile X is so varied, it is important to do a careful evaluation of the individuals' abilities and difficulties to tailor a treatment plan to address specific needs. This means that not every patient should be treated the exact same way but that they should have a certain treatmeant plan built for them personally. Also not every child needs as much therapy as a different child.

**Life Expectancy:** The Life Expectancy of a Fragile X patient is not affected by their disease. Since there disease effects the mentality of the patient (making them mental retarded). The patient's life expectancy is just as normal as the average person.

**__Fragile X Association of Southern California__**, this Association is to help the lives of patients and to make it enjoyable and as normal as possible. **__The National Fragile X Foundation__** which also helps to make the patient's life much more enjoyable and makes there quality of life wonderful. 
 * Support Organizations: **

//**(Ryan W.) **//