Essay --

Isaac Thomas Rett Syndrome Rett syndrome is a progressive neurological disorder that affects almost exclusively in females. The most basic symptoms include decreased speech, cognitive disabilities, severe lack of muscle control, small head size, and unusual hand movements. A woman with a mutation in her MECP2 gene, has a 50% risk with any pregnancy to pass on her X chromosome with the mutation. It is not common for women with Rett syndrome to have children because the severity of the disorder. The mutated gene on the X chromosome that is responsible for causing Rett syndrome is the methyl CpG-binding protein 2, MECP2 gene. The gene makes a protein that controls other genes. When a mutation occurs in the MECP2, the protein it makes does not work properly. This is thought to counteract normal neuron, nerve cell development. The severity of the syndrome in females is related to the type of mutation in the MECP2 gene and the percentage of cells that carry a normal copy of the MECP2 gene. Rett syndrome is believed to affect all ethnic groups and nationalities with an equal frequency of about 1 case for every 10,000 to 15,000 live female births. Rett syndrome is an X-linked dominant gene. This means that the mutation responsible for Rett syndrome affects the gene located on the X chromosome. Females attain two X chromosomes, one from each parent. Males have one X and one Y chromosome. There is no cure for Rett syndrome. Treatment of patients with Rett syndrome focuses on improving the symptoms present. Treatment may include medications that constrain seizures, reduce spasticity, and prevent sleep disturbances. Nutrition is supervised in females with Rett syndrome due to their small build and the constipation related with the... ...romosome they carry cannot compensate for this mutation on their X chromosome. Females with a mutation in the gene that causes Rett Syndrome are able to survive because the presence of the second normal X chromosome partially compensates for the mutation on the other X chromosome. Bibliography 1. "Rett syndrome." Holly A. Ishmael, MS, CGC. and Tish Davidson, A.M. The Gale Encyclopedia of Neurological Disorders, Second Edition. Ed. Brigham Narins. Detroit: Gale, 2012. 2 vols. 2. "Rett syndrome." Holly A. Ishmael, MS, CGC. The Gale Encyclopedia of Genetic Disorders. Ed. Laurie Fundukian. 3rd ed. Detroit: Gale, 2010. 2 vols. 3. "Rett syndrome." Rebecca J. Frey, PhD., Emily Jane. Willingham, PhD., and Laura Jean Cataldo, RN, EdD. The Gale Encyclopedia of Mental Health. Ed. Kristin Key. 3rd ed. Detroit: Gale, 2012. 2 vols. Essay -- Isaac Thomas Rett Syndrome Rett syndrome is a progressive neurological disorder that affects almost exclusively in females. The most basic symptoms include decreased speech, cognitive disabilities, severe lack of muscle control, small head size, and unusual hand movements. A woman with a mutation in her MECP2 gene, has a 50% risk with any pregnancy to pass on her X chromosome with the mutation. It is not common for women with Rett syndrome to have children because the severity of the disorder. The mutated gene on the X chromosome that is responsible for causing Rett syndrome is the methyl CpG-binding protein 2, MECP2 gene. The gene makes a protein that controls other genes. When a mutation occurs in the MECP2, the protein it makes does not work properly. This is thought to counteract normal neuron, nerve cell development. The severity of the syndrome in females is related to the type of mutation in the MECP2 gene and the percentage of cells that carry a normal copy of the MECP2 gene. Rett syndrome is believed to affect all ethnic groups and nationalities with an equal frequency of about 1 case for every 10,000 to 15,000 live female births. Rett syndrome is an X-linked dominant gene. This means that the mutation responsible for Rett syndrome affects the gene located on the X chromosome. Females attain two X chromosomes, one from each parent. Males have one X and one Y chromosome. There is no cure for Rett syndrome. Treatment of patients with Rett syndrome focuses on improving the symptoms present. Treatment may include medications that constrain seizures, reduce spasticity, and prevent sleep disturbances. Nutrition is supervised in females with Rett syndrome due to their small build and the constipation related with the... ...romosome they carry cannot compensate for this mutation on their X chromosome. Females with a mutation in the gene that causes Rett Syndrome are able to survive because the presence of the second normal X chromosome partially compensates for the mutation on the other X chromosome. Bibliography 1. "Rett syndrome." Holly A. Ishmael, MS, CGC. and Tish Davidson, A.M. The Gale Encyclopedia of Neurological Disorders, Second Edition. Ed. Brigham Narins. Detroit: Gale, 2012. 2 vols. 2. "Rett syndrome." Holly A. Ishmael, MS, CGC. The Gale Encyclopedia of Genetic Disorders. Ed. Laurie Fundukian. 3rd ed. Detroit: Gale, 2010. 2 vols. 3. "Rett syndrome." Rebecca J. Frey, PhD., Emily Jane. Willingham, PhD., and Laura Jean Cataldo, RN, EdD. The Gale Encyclopedia of Mental Health. Ed. Kristin Key. 3rd ed. Detroit: Gale, 2012. 2 vols.