A Genetic Analysis Of De Grouchy Syndrome

contribute to the cause of this disease such as family history or age.. Many treatment options are

This condition is diagnosed with a medical history and physical exam. You may also have tests,

The symptons include facial disformities including downward slanting eyes, smaller lower jaw (also referred to as micrognathia),underdevloped zygoma, drooping

Rett syndrome (RTT) is a rare random brain & nervous system disorder that only affects girls due to it being an X-linked mutation and although it is genetic, it is not hereditary; it rarely affects boys, when it does the symptoms are more severe and the “babies rarely live past birth” (Bhandari, 2017). The babies usually go through a normal pregnancy and start to show symptoms after the first six months; they become more prominent at “12 and 18 months, and they can be sudden or progress slowly.” (Bhandari, 2017). Symptoms include “slowed growth, trouble with breathing, no language skills, problems with hand movements, muscles, and coordination” (Bhandari, 2017). There is no cure, but the best available treatments include “standard medical care

At birth, children with familial dysautonomia are diagnosed by a distinct set of symptoms. (FD Facts) Poor muscle tone and lack of tears are two symptoms that can be detected very early. As they get older they have a hard time maintaining body temperature, they hold their breath for long periods of time and have a delay in speech and walking. The cause of these symptoms is due to a defect IKBKAP gene.

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

The reading shows disease and inheritance in an entirely new light. It introduces the idea that genetically inherited diseases may have been selected for, which means that they must provide certain evolutionary advantages. It reorients the reader’s perspective about a disease like hemochromatosis, which has the potential to be incredibly harmful and even deadly, establishing that it may have once provided protection from the bubonic plague, making it an advantageous trait. This brings other genetic diseases into question, examining why diseases that appear to be harmful have not been eliminated from the gene pool. The idea that a disease that is harmful and dangerous in modern times could have once been a beneficial adaptation is very interesting.

Rett Syndrome is a neurodevelopmental disorder often misdiagnosed as autism, cerebral palsy or a developmental disorder. Rett Syndrome affects girls and is characterized by normal early growth and development followed by a slowing of development and loss of hand skills, acquired speech, and slowing of head growth. It affects one in every 10,000 to 15,000 live female births and all races and ethnic groups. Rett Syndrome is not inherited or passed through generations, most cases are considered spontaneous. Most girls will live only to their mid twenties. With recent technology and medicine some girls are able to live up to thirty-five. This disease will leave affected females dependent on caregivers or family members for the entirety of their

This condition is not one of those that are easily diagnosed. Also it is usually not

In most cases it is an X-linked genetic disorder that is carried by the mother but only manifesting in sons. It is caused by a mutated gene and results in low levels of dystrophin. Whereas normal muscles have dystrophin to help keep their shape and strength, those who suffer from MD tend to lack proper levels of this protein or will not be able to produce it at all. According to the Muscular Dystrophy Association, there are nine types of DM, with the two most common types being Duchenne and Becker. The symptoms of each type tend to differ, but Duchenne and Becker have similar signs: muscle weakness in the extremities, difficulty walking, lordotic posture, and enlarged calf muscles. The most easily recognizable sign of MD is a “toe gait,” which is characterized by the patient walking on his/her toes and walking with an abnormal forward curvature of the spine in the lumbar region. This gait is the result of the lower leg muscles compensating for upper leg muscles that no longer function, and the lordotic posture is due to a tilted pelvis caused by weakened muscles around the

From Cystic Fibrosis to Down’s Syndrome and Sickle Cell Anemia, there are tens of thousands of genetic disorders, with many more to be discovered. The fascinating thing about genetic disorders is that when we were born it’s a gamble whether or not we would come into this world with a genetic disorder. Although genetic disorders are quite rare and we take being born without one as granted, there are many out there that live with these disorders everyday. My research paper will focus on the specificalities of a few genetic disorders, the disorders presented in my paper are Marfan Syndrome, Hutchinson-Gilford Progeria, Cystic Fibrosis, and Sickle Cell Anemia. My paper will encompass important specifics

Fragile X Syndrome is a genetic disorder in a individual genes. It can causes mental retardation.

Hutchinson Gilford Progeria syndrome (HGPS) is a very rare and destructive genetic disorder. It is progressive, causing children to age rapidly beginning 2 years after birth. Children with Progeria usually appear normal at birth, however by 1 year the signs and symptoms of Progeria begin. Symptoms of Progeria include short stature, bulging eyes, small jaw, disproportion of head to body, alopecia, beaked nose, pathologic bone fractures, hearing loss, photophobia and hypertension. (Alves and others 2014) Progeria’s occurrence is 1 in 4 million to 1 in 8 million live births and males are more frequently affected than females. The average life expectancy for a child with Progeria is about 13. (King 2013) However some with the disease die younger and some live to be 20 years or older. Death in Progeria is primarily caused by heart attacks and atherosclerosis. Atherosclerosis is a disease in which the arteries become hardened. (Bhimji 2011)

There are many genetic diseases and disorders in the world these days, some of which are stranger or more unique then others. One such unique genetic disease is Congenital Insensitivity to Pain with Anhidrosis or CIPA for short. This particular genetic disease causes people who have to it to not be able to feel pain or even differentiated between hot or cold. As well as be unable to sweat, because of the anhidrosis. This genetic condition is also known as hereditary sensory and autonomic neuropathy type IV, but in this paper it will only be referred to as CIPA.

Those with Down syndrome nearly always have physical and intellectual disabilities. They have an increased risk of a number of other health problems, including congenital heart disease, epilepsy, leukemia, thyroid diseases, and mental disorders, among others. People with Down syndrome may have some or all of these physical characteristics: a small chin, slanted eyes, poor, a flat nasal bridge, a single crease of the palm, and a protruding tongue due to a small mouth and relatively large tongue. These airway changes lead to obstructive sleep apnea in around half of those with Down syndrome. Other common features include: a flat and wide face, a short neck, excessive joint flexibility, extra space between big toe and second toe, abnormal patterns on the fingertips and short fingers. Instability of the atlantoaxial joint occurs and may lead to spinal cord complications. Hip dislocations may occur without trauma in up to a third of people with Down syndrome. Growth in height is slower, resulting in adults who tend to have short stature. As they age, people with Down syndrome typically perform less well compared to their same-age peers. Some of the affected may lose their ability to speak after thirty one years of age. It is noted to cause a about a third of cases of intellectual disability. The ability to crawl or ability to walk independently is delayed. Slow development of these important mile stones are often a cause of