Children who have Progeria age at up to ten times the speed of people without it. By the time a baby who has Progeria is about a year and a half old, his or her skin starts to wrinkle and their hair starts to fall out. Cardiovascular problems, like hardening of the arteries, and degenerative diseases, like arthritis, soon follow. Most people who have Progeria die in their teens of a heart attack or a stroke; nobody is known to have lived past thirty. Hutchinson-Gilford Progeria isn't the only disease that causes accelerated aging—it's just the most heartbreaking, because it's the fastest, and it starts at birth.…
My choice for a genetic disorder is Spinal Muscular Atrophy also known as SMA. SMA is an inherited or genetic disorder that affects spinal motor neurons. Without these properly functioning neurons, patients have increased muscle weakness. In some severe cases patients will lose the ability to breath or swallow on their own. According to the National Human Genome Research Center, 1 in 6,000 to 1 in 10,000 people are affected by SMA.…
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…
Laforin Isoform X4 is associated with epilepsy. The full name for this gene is; epilepsy, progressive myoclonus type 2A, Lafora disease (Laforin). Lafora disease is the most severe teenage-onset that progresses epilepsy. This gene encodes a dual-specificity phosphatase that associates with polyribosomes, then the encoded protein may be involved in the regulation of glycogen metabolism. The mutations in this gene are associated with myoclonic epilepsy lafora.…
Some patients have a genetic predisposition to developing the disease. Other…
Krabbe disease Brief description of the disorder: Krabbe disease, a rare genetic degenerative disorder of the central and peripheral nervous systems. It is initiated from a lack of galactocerebrosidase, a vital enzyme for myelin metabolism. This disease is one of a group of genetic disorders called the leukodystrophies, which affects the growth of development of the myelin sheath, the fatty substance that insulates and protects the nerves in the brain and spinal cord. The myelin sheath continues to develop after birth, with the growth rate peaking before 18 months of age. The myelin sheath is completely developed when a person is about 20 years old.…
A neonatologist is a doctor that specializes in the field of neonatology. So... "Neonatologist" is basically a fancy technical term for "baby doctor." Marfan Syndrome Marfan syndrome and related disorders affect the body’s connective tissue. Connective tissue holds the body together and plays a role in its growth and development.…
A hero is like the sun on a rainy day. They might not be seen, but when they are seen people’s day get brighter and a rainbow may form. Most heroes have at least one thing in common, they want to help and better other people’s life or the way they view life. Heroes are respectful and impact others, but they are never arrogant.…
Spinal Muscular Atrophy Have you ever had a dream where you thought you couldn’t move? You are telling your arms to move and your legs to move but they don’t seem to understand. You are screaming inside because now you are scared because you don’t know what to do. Your body is stiff and not moving. You just keep trying and trying but still can’t move.…
Familial hypercholesterolemia is a genetic disorder. It is caused by a defect on chromosome 19. The defect makes the body unable to remove low density lipoprotein (LDL, or bad) cholesterol from the blood. This results in a high level of LDL in the blood.…
Lupus Erythematosus is an auto immune disease which means that the immune system makes antibodies that attack the healthy tissue. This leads to skin problems such as sores and rashes. Discoid Lupus Erythematosus is only relating to problems with skin. However, Systemic Lupus Erythematosus involves the destruction of vital organs along with skin complications. This disease cannot be cured, but it can be treated.…
Marfan syndrome is a strange disease. It is genetic, and it is very rare. Sadly, it makes leading a normal life harder. On the plus side it can be treated. Marfan syndrome is a disease that affects your connective tissue.…
Zimmermann Laband Syndrome, a rare autosomal dominant genetic disorder, is abnormalities of the face, head, feet, and hands. The disease is caused by a mutation in the ATP6V1B2 gene on chromosome 8p21 or a mutation in the KCNH1 gene on chromosome 1q32. It affects individuals who are of Eastern Indian ancestry from India and the West Indies and also individuals from European descent. Zimmermann Laband Syndrome is inherited as an autosomal dominant trait, but also may exist as an autosomal recessive trait. This disease is genetic and can only be inherited.…
Progeria is the premature aging of children and sometimes adults. There are two types of progeria: Hutchinson- gilford syndrome and Werner syndrome. Hutchinson- gilford syndrome is the onset of puberty (the onset of puberty is before puberty occurs). This type is when a “genetic mutation occurs at random, [which] is not the cause of inheritance, meaning that the disease is not a cause of parents passing down something…
When the body becomes exposed to chronic exposure to alcohol the body will adapt to changes thus causing different responses to it. A person that drinks alcohol all the time will build up a tolerance to alcohol and will not get the effect as a person that drinks once and while or rarely drinks. The brain will start to develop a pathological craving for alcohol, longer the chronic drinker uses alcohol the stronger the desires become to fulfill them. If the body does not get the desired fix of alcohol once it becomes addicted to it, individuals will develop side effect from lack of alcohol. Some of these side effects are anxiety, elevated heart beat, overwhelming feeling of restlessness and sweating (NEUROSCIENCE: PATHWAYS TO ALCOHOL DEPENDENCE,…