Fragile X

emily500

,United States

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Symptoms: -mild to severe mental retardation -large ears -large jaw -speech delay -autistic symptoms -occasional self mutilation -hyperactivity -anxiety and unstable moods -siezures affect about 25% of Fragile X patients

Fragile X

Treatment: -special education -speech occupation -seonsory intergration training -behavior modification programs -heart surgery to repair defects is sometimes necessary -folic acid can help with hyperactivity

How is Fragile X Inherited: -A certain gene (FMR1) gets shut down by a defect in people with Fragile X. This makes the gene unable to produce the protein it normally makes. -A carriers gene has a slight defect (premutated) but they do not show any symptoms -Carrier men pass the premutated gene down to all of their daughters but no sons. Every child of the carrier women has a 50% chance of getting the defected gene.

People who should be tested: -a child shows autistic symptoms and symtoms of Fragile X -Induviduals who have a family history of Fragile X and may be carriers -Women who are known carriers and are pregnant. there is a test that can determine whether the baby has the mutated gene or not

Ethical Issues: There are no ethical issuses surrounding Fragile X. The tests that are used to find Fragile X do not cause any problems and there is no controversy over this disease.

Quality of Life: No research needs to be done to improve a persons quality of life with this disease. Everyone affected adapts to this person dealing with their issues. The patient can go through treatment in order to help them cope with the disease and in a way improve their quality of life but overall its an issue of adapting.

Research: Scientists are researching things such as gene repair, gene reactivation, gene therapy, protein replacement, and protein substitutes

I found that since Fragile X is carried by the X chromosome and does not follow the conventional patterns of inheritance its almost impossible to make a punnett square out of. It is not known whether this disease is dominant or recessive and unless a male has the disease only women can be carriers.