Rett Syndrome Research Paper

Turner Syndrome is a disorder that affects one in every two thousand girls. Usually girls are born with only one X chromosomes. Some are born with an extra chromosome, or sometimes even half of one is missing which causes Turner Syndrome.

This syndrome is from a mutation of a gene on chromosome 15 and this causes problems in the production of fibrillin-1 which is a protein that is an important part of connective tissue. The name for the gene is FBN1. Basically, it is the “glue” that helps to support the tissues in the human body. A child born to a parent with this syndrome has a 50% of having it. However, in the remaining 25%, neither parent has the disease which gives them a 1 in 10,000 chance of having a child with this disorder. When a child of two unaffected parents is born with it then the genetic mutation occurs in either the egg or sperm cell at the time of conception.

Source http://www.epilepsy.com/learn/types-epilepsy-syndromes/dravet-syndrome The majority of Dravet mutations are not inherited from either parent, as is the case with Jayden whose parents do not carry the gene that causes Dravet syndrome. It is common for patients with this condition to exhibit cognitive impairment, behavioral disorders, and motor

Approximately 1 in every 10,000 infants in the United States is affected with Rett syndrome (RTT), an X-linked neurodevelopmental disease. (Jin, Chen, & Xiao, 2017). Nearly all RTT patients are girls as the mutation on the male’s single X-chromosome tends to be prenatally lethal. The disorder was first described by Andreas Rett in 1966 and is characterized by apparent normal development for the first six to eighteen months of life, followed by the loss of intellectual functioning, acquired fine and gross motor skills, and the ability to engage in social interaction (Krishnan, Krishnan, Connors, Choy, Page, Peti, Van Aiest, Shea, & Tonks, 2015). Other clinical manifestations include seizures, disturbed breathing patterns with periodic

This disorder mostly presents in female children at a rate of 1:10,000-15,000 births and appears in every race and ethnic group around the world. This disorder rarely manifests in males, but when it does, the child usually does not survive, passing away shortly after birth (ninds). Rett Syndrome is thought to be caused by a mutation on the X chromosome in the MECP2 gene. There are four different types of Rett Syndrome including: typical or classic, early seizure or congenital onset, late onset, and preserved speech. (Rs.org) The diagnosis of either classic/typical RTT or a variant is done by a pediatric neurologist, developmental pediatrician, or a clinical geneticist (ninds) using a RTT Diagnostic Criteria Worksheet. According to Hagberg (2002), a child with classic RTT

CMT can be passed down by sex-linked chromosomes or it can be passed down through autosomal inheritance. Either way, CMT is a mutation of proteins required for the peripheral nervous system. If it’s sex-linked it means the disease is carried on the female sex chromosome X, never on the Y male chromosome. If it’s autosomal it means it’s carried in the DNA, on the genetic chromosomes. It can be recessive, needing two pairs of bad alleles, one from each parent, or it could be dominant only needing one allele from either parent. There are cases where people were affected carrying only one recessive allele, like men for instance (MDA, 2017), where males only have one X, if their X chromosome is a faulty one, it could be missing genetic information it needs to keep rebuilding proteins the body requires for reproduction of those crucial proteins. CMT can pop up and affect anyone at any given time in life, you could live with CMT your whole life and never know you have it, or you could find out you’re a carrier for CMT after you’ve passed it on to your offspring (Al-Thihli, K et al. 2012). As you can tell CMT is passed down through inheritance, we are the cause of the continuing cases for CMT, and we still don’t have a cure to treat the prior cases. It seems the disease is only continuing to be carried in more forms as we diagnose more people and disclose more cases (Vallat, Jean-Michel, 2003).

“From my Friend” is a great story about a young girl and her life from grade school all the way to college. This young girl happens to have a syndrome known as Rett syndrome. I chose this piece over, “An A is an A,” because I found the syndrome more interesting to learn about. While doing some research on Rett syndrome I discovered a lot of things that I never knew at all about the syndrome. Rett syndrome is a rare, but severe brain disorder that affects girls. It is usually discovered in the first two years of life. There is no cure, but early detection and treatment can help the victims and families with coping with this syndrome. The symptoms that come along with Rett syndrome are loss of muscle tone, loss of any purposeful use of hands,

Researchers have found a mutation in the WNT3 gene in people with tetra-amelia syndrome from one large family. This gene is part of a family of WNT gene that plays critical roles in development before birth. The protein produced from the WNT3 gene is involved in the formation of the limbs and other systems during embryonic development. Mutations in the WNT3 gene prevent cells from producing functional WNT3 protein, which disrupts normal limb formation and leads to the other serious birth defects associated with tetra-amelia syndrome. Wnt3 is the only gene in which mutations are known to cause terta-amelia syndrome. The mutation detection frequency is unknown, as only a limited number of families have been studied. Tetra-Amelia syndrome is inherited in an autosomal recessive manner. At conception, each sib of an affected individual has a 25% chance of being affected, a 50% chance of being an asymptomatic carrier, and a 25% chance of being affected and not a carrier. Prenatal testing by molecular genetic testing is possible if the disease-causing mutation in WNT3 have been identified in an affected family member

This disease is genetic and has no environmental factors. De Grouchy syndrome is a rare condition caused by a chromosome 18 abnormality. The affected person will have a short stature, lack of muscle tone, hearing impairment, and foot deformities. Poor coordination, involuntary eye movement, seizures, a small head, underdeveloped mid-face, deep-set eyes, and autistic behavior are also symptoms. There is no known treatment for De Grouchy syndrome. Scientists are working on a treatment, but it is hard to make a treatment for a disease that has no environmental factors. To effectively diagnose De Grouchy syndrome, a genetic analysis needs to be performed. You must go to a hospital or doctor's office to have it diagnosed. It is genetic and it cannot

A simple change in your chromosomes can cause this rare genetic disorder to appear. TCS affects 1 in 50,000 newborns worldwide since this condition can be passed through genetics but sometimes it is just caused by a

The family referred from a neurologist and gynecologist for genetic counseling during pregnancy and probable prenatal diagnosis. Parents were first cousins and the mother was pregnant (6week). Proband II.2 was a 12 years old boy and his younger brother, proband II.3, was 8 years old. The pedigree is shown in Figure 1. The clinical manifestations of the affected children are as follows: mild ptosis and limitation of ocular motility in the vertical direction, decreased facial movements, speech difficulties, limited shoulder movement, limited elbow movement, severe contracture of fingers II-V, talus valgus, deformity of feet and difficulty in walking.

Rett syndrome is defined as “A progressive neurodevelopmental disorder mainly caused by mutations in the gene encoding the methyl-CpG-binding protein 2 ” - Cortealzo et al(2013)This condition mainly targets females however in rare cases males can also develop it. Onset of classic Rett syndrome usually occurs during infancy, specifically between the ages of six to eighteen months. Numerous manifestations take place including motor, as well as social impairment, while microcephaly is more commonly associated with either Hanfeld or Rolando variation. Though the majority of cases are associated with mutations taking place on the MECP2 X chromosome other variations have different genetic origins. Variations including Rolando, Hanfeld & Zapella are

Joubert Syndrome is caused by a mutation of cells during cell development that prevent the cilia of the cells from fully developing. The condition is an autosomal recessive trait that are carried on X chromosomes in an X-linked recessive pattern. The changes in the genes of the cells cause mutations to happen, which then leads to Joubert Syndrome. More than 30 genetic mutation occur to cause Joubert Syndrome.

First, the mutation occurs in the MECP2, which controls the functions of many other genes. It is located on the X chromosome. According to the National Institute of Neurological Disorders and Stroke, “The MECP2 gene contains instructions for the synthesis of a protein, which is needed for brain development and acts as one of the many switches that can tell other genes when to turn off and stop producing their own unique proteins” (Rett Syndrome Fact Sheet: NIH NINDS). The National

TS is not directly “treated” by a doctor, but the individual health concerns that arise for each girl or woman with TS should be monitored and treated by the appropriate specialist (Turner Syndrome Society of the U.S).” Females with TS have a normal life expectancy but it also depends on the severity of their case and if they are receiving the medical treatment that they need to live a healthy life. For example, girls who have heart problems due to TS must see a cardiologist. Turner Syndrome contributes to only females because we have two X chromosomes and this disorder is the defect of one X chromosome. There is no cure for Turner Syndrome, but therapies have been developed that can improve physical treatment. The primary therapies for affected individuals are growth hormone therapy and estrogen therapy. Most females with Turner syndrome require sex hormone replacement therapy in order to undergo normal development associated with puberty and to begin their menstrual