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What is Rett Syndrome? April 17, 2011

Posted by cjcd in Uncategorized.
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Rett syndrome is a rare (about 1 in 10,000 girls) neurological and developmental disorder caused by defects on the X chromosome. Those affected generally have normal development for the first 6-18 months of their lives before exhibiting symptoms and suffering developmental reversals. The symptoms are many and include autistic-like behaviors such as social disengagement and loss of speech, motor coordination problems such as gait abnormalities and a loss of purposeful hand use, scoliosis,  gastrointestinal problems, seizures, microcephaly (an abnormally small head), and mental disabilities.

A girl with Rett syndrome.

Rett syndrome is seen almost exclusively in girls because the mutation that causes it, located on the X chromosome, usually causes a fetus to spontaneously abort if it does not have a normal X chromosome in addition to the defective one. Treatments for Rett syndrome presently include behavioral and physical therapies and medication for symptoms both physical (gastrointestinal problems) and mental (anti-psychotics to prevent self harming behaviors). Currently investigations are being made into the root mechanisms of the disease and possible cures at the molecular level. Click on the “The Biology of Rett Syndrome” or “Rett Syndrome Research” tabs above for more information about these advances, or visit PubMed for more information about the disease.

References

4-18-2011
Cody Davis cdavis2@samford.edu
Biology 306
Samford University

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