Facts of the Case: A golfer with Klippel-Trenaunay-Weber Syndrome wanted to enter into a tournament and requested an accommodation to use a golf cart during the third round that was denied. Under Title III of the American with Disabilities Act, public businesses must provide accommodations and make modifications for people with disabilities, unless that accommodation would “fundamentally alter the nature” of the business. Casey Martin’s lawyers argued that, by Title III of the ADA, the Q-School golf tour competition cannot deny Martin equal access and must give him reasonable accommodations. They stated that golf courses are a public accommodation, and that the golf tour and qualifying rounds fall under Title III’s coverage. Using a golf cart during the third round would not “fundamentally alter the…
Introduction The genetic autosomal recessive disorder known as Cystic Fibrosis (CF) effects on average 1 of 28 Caucasians. The average age for patients to be diagnosed with this genetic disorder is around 2 weeks and 2 years old, there are some cases where they are find out sooner and others when they are adults. CF affect the patient’s chloride channels which causes the mucus in their lungs to thicken and pool. It can also affect the pancreas by blocking it up and not allowing it to produce digestive enzymes.…
The disease usually starts during infancy (7.5%), childhood (61.5%) or puberty (22%) with a progressive increase or decrease in the pigment of the skin. The cause of the condition is an inactivating PH mutation in either the EVER1 or EVER2 genes, which are located adjacent to one another on chromosome 17. Flat…
Tay-Sachs disease is a genetic disorder that affects nerve cells in the brain and spinal cord. This condition is caused by mutations in a gene called hexosaminidase subunit alpha(HEXA). The HEXA is a gene that provides instructions for making beta-hexosaminidase that makes a functional enzyme with one alpha subunit. Beta-hexosaminidase is an enzyme that is located in lysosomes, is an important enzyme that breaks down a GM2 ganglioside. Therefore, the lack of the beta-hexosaminidase enzyme results in the accumulation of the GM2 ganglioside in the brain and spinal cord that damages nerve cells.…
The causes with these disorders are a narrow biological disorder in genetic…
MELAS is an uncommon hereditary disorder that can cause strokes and dementia. MELAS syndrome is a neurodegenerative disorder. MELAS stands for mitochondrial myopathy, encephalopathy, lactic acidosis, and stroke-like episodes. MELAS syndrome is brought about by changes in genetic material (DNA) in the mitochondria. Our DNA is found mostly in the cell nucleus.…
Spinal muscular atrophy is a disorder that takes away the ability to walk, eat, or breathe. The major causes of this disorder are caused by a mutation in the survival motor cell neuron gene. The symptoms of this disorder are having breathing difficulties, leading to a lack of oxygen. Also if you have a poor muscle tone like a floppy infant. You cannot cure or treat this disorder.…
Shaina Willenberg 2/16/16 Research Paper Vitiligo Vitiligo is an autoimmune skin disease that affects a person in which they’re having the destruction of melanin in their body. This will lead to the loss of pigmentation. The loss of pigmentation in the skin is due to the melanocytes (melanin) which forms white patches on the skin. This disease can affect 1 in every 100 people in the Unites States (2). This skin disorder can affect both males and females of any race.…
According to our notes, Hurler’s syndrome is autosomal recessive; it affects both genders; it causes early changes in infant’s normal appearance; it causes a child to have metabolism or storage problem, growth deficiency, progressive mental retardation, progressive coarsening of facial features, corneal clouding, progressive hearing loss (conductive or mixed), and middle ear disorders. Jervell and Lange-Nielsen syndrome is also autosomal recessive, and it causes affected children to have cardiovascular disorder and profound congenital sensorineural hearing loss in both…
The disease is genetically inherited and is a recessive. To be exhibited in…
Cystic Fibrosis is a life-threatening, genetic disease that causes persistent lung infections and progressively limits the ability to breathe, which has approximately affected 30,000 people in the United States and an estimate of 70,000 people worldwide (NHlBI,2013). The disease is most common among children and young adults. I will now begin to inform you about the cause, the symptoms and how to treat Cystic Fibrosis. Cystic Fibrosis affects the respiratory tract, the digestive tract, the sweat glands, and the fertility cells. Cystic fibrosis is caused by a mutation in a gene that controls the production of a protein that is needed for the controlling of water balance within a cell.…
What hair color? Tall or short? Smart or athletic? Imagine that you are able to choose the traits of your child, would you create a perfect baby or conceive your baby naturally? Researchers have been saying that parents will be able to choose their child’s genes.…
Discussing Smith - Magenis syndrome is based on the prevailing need of compiling evidence based information in regards to this genetic condition and its management for the therapists treating those patients in our agency. The development of this topic also obeys to the need of delivering positioning, handling, and activities guidelines to the teachers and families with children with this disorder at our practice. Potentially these principles can get translated to other genetic conditions with similar manifestations. Smith – Magenis, also known as SMS, affects 1 in 25,000 individuals worldwide (Genetics Home Reference, 2017). Currently, at our clinic we have two female toddler patients with that diagnosis receiving educational and therapeutic services.…
Fragile X syndrome (FXS) is a genetic disorder that is the most common cause of inherited mental retardation. Although often compared to autism, FXS is a comprehensive disorder, characterized by numerous physical and behavioral symptoms. FXS is a caused by trinucleotide repeats on the X chromosome, which prevents the production of the protein FMRP, that is necessary for normal brain functioning. It is important for parents, educators, and the general population to better understand this syndrome, as interventions must be targeted for the characteristics specific to FXS, rather than simply lumping it together with autism and expecting that those methods will be beneficial to the child. Fragile X syndrome affects about one out of every five…
In the past five years, scientists have identified a number of rare gene changes or mutations that are now connected…