There are many different genetic disorders, conditions and diseases that can effect human beings of all ages, all genders, races and ethnicities. Rett Syndrome is a progressive neurodevelopmental disorder that effects females almost exclusively and occurs in 1 in 10,000 female births. Rett Syndrome, RTT, is believed to be caused by mutations in a gene identified as MeCP2, called a transcriptional repressor, which functions by coding for protein and has influence on other genes. This gene is found in the X chromosome; this is why the mutation is more likely in females than in males. When that gene becomes mutated it leads to a loss of protein, which then leads to the phenotype for RTT (National Center for Biotechnology Information, 1998).
Rett Syndrome does not manifest at birth, which is why it is often overlooked. The development of the child will remain consistent and normal for the first 16 to 18 months. At this point the sufferer will begin to slow in achieving developmental milestones and those already achieved will begin to regress. This condition will lead to lifelong disability, which will include a loss of muscle tone and use of the hands, as well as, the potential for seizures. In the beginning many of the behaviors seen resemble autism, but this is a phase. Later in the progression of the disease people acknowledge that they more social through “intense eye gaze” (National Center for Biotechnology Information, 1998).
There are no cures available for this condition. However, there are therapies and medications that can be used to treat the symptoms of the condition. At this time the best ways to approach children with Rett Syndrome is to make efforts to help the child deal with their condition. Experts currently believe that there is promise for the sufferers of Rett Syndrome. It is proposed that by studying the relationship between the MeCP2 gene and protein could lead to the discovery of future therapies of for this serious genetic condition (National Center for Biotechnology Information, 1998).
REFERENCES
National Center for Biotechnology Information. (1998). Female-specific diseases: Rett syndrome. Genes and Disease. 1-2.
