Many people are affected by genetic disorders every day. Abnormalities in one’s DNA are what cause a genetic disorder. These disorders could be as little as a mutation in a single gene. In another case, they could be as severe as having an extra chromosome, or taking away a chromosome. Genetic disorders are present from birth, but they may not be visibly seen until a later age. Some mutations could be heritable, or from your parents genes. Some forms of cancer can be inherited form a parent. Although, in most cases, these mutations are new changes to the DNA. “All humans have the same basic set of genes”. This means that everyone has the probability that they could get a genetic disorder. The thing that makes us different is the …show more content…
There is one major problem with Amyotrophic lateral sclerosis. Scientists and doctors have still not been able to find a permanent treatment for it. Although there is one medicine called riluzole that can slow down the symptoms, giving victims longer to live. Physical therapy and the use of braces, are non-medicinal ways of helping with the muscle weakness. There are many medications that can be used to help with specific symptoms of ALS. Since choking is common in someone with ALS, most people are hooked up to a tube and are fed through it. This is called a gastrostomy. A gastrostomy is when they make an opening in the stomach from the abdominal wall so they can put in food. This is obviously a surgical procedure. Amyotrophic lateral sclerosis is named after Lou Gehrig, who was a famous baseball player in 1930s. The French refer to it as Maladie de Charcot because the first recording of ALS was in 1869 by a French doctor named Jean-Martin Charcot. Stephen Hawking is one of the more famous people with ALS. He has had ALS since the start of his adult life, and he has been living with it for more than 50 years. Most people die from it three to five years after the symptoms become noticeable. This is why Stephen Hawking’s case is very special. It was just after his 21 birthday when he found out something was wrong. Yet he is still living and doing the most he can with his life. For
Amyotrophic Lateral Sclerosis was discovered in 1869 by a French neurologist named Jean-Martin Charcot. However, the disease did not become known worldwide until 1939 when famous baseball player, Lou Gehrig was diagnosed. The disease later took his life. Amyotrophic Lateral Sclerosis, also known as ALS, or more commonly known as Lou Gehrig's disease, is a progressive neurodegenerative disease that attacks nerve cells in the brain and the spinal cord. Motor neurons extend from the brain to the spinal cord and from the spinal cord to the muscles distributed throughout the human body. Degeneration of motor neurons eventually lead to death. Amyotrophic comes from the Greek language which translate into "No muscle nourishment. ALS can be summed
Amyotrophic Lateral Sclerosis (ALS) is a terminal disease, also known as Motor Neurons Disease, Charchot Disease and Lou Gehrig disease. ALS destroys the Central Nervous System (CNS) and causes damage to the upper and lower motor neurons in the brain. Signs and symptoms are characterized as: muscles weakness, muscle atrophy, twitching and reduced muscle reflexes. Eventually the patient will become paralyzed and rely on a tracheostomy and ventilator for breathing (ALS Association [ALSA], 2010).
The causes of getting ALS are getting multiple hits to the head, may not be all at once. It can cause serious problems that affects the daily life, for example hard to walk, speak, swallow, and breathe. People are being diagnosed with ALS at the ages of 40-70 with an average of 55 years. New studies state that athletes are being diagnosed at a younger age do to getting multiple hits to the head related to being in sports. After being diagnosed your life expectancy is 3-5 years, however it can increase with therapies and riluzole which is a drug and is very expensive. The disease isn't cured, it just slows down the disease. A well known person who had ALS is Lou Gehrig, he was a baseball player for the New York Yankees and was in the Hall of Fame in 1939. Started showing symptoms of ALS in 1938 and died on June 2nd
ALS (Amyotrophic Lateral Sclerosis) or Lou Gehrig’s Disease is a classified as a degenerative neurological disorder that inhibits motor neurons in the spinal cord and brain to function properly. This disease eventually results in paralysis and imminent death over a period of time. ALS patients have anywhere from a few months, to a couple years to live after diagnosis since their nervous systems are slowly destroyed, rendering the body useless, and sustaining life impossible.
Everyday, an average of 15 people are diagnosed with Amyotrophic Lateral Sclerosis(ALS) also commonly known as Lou Gehrig's disease. Across the world there are more than 5,600 cases of ALS every year. People all around the world are open to being diagnosed with ALS, it affects people of all ages, races, and gender. Amyotrophic Lateral Sclerosis has affected millions of families and individuals since 1869. However, what is Amyotrophic Lateral Sclerosis, what does life look like for someone with ALS , and what research is being done for a cure?
Genetic diseases are pathological diseases caused by the absence or alteration of one or several genes in the cells of an organism. Most genetic diseases are caused by the inheritance of an altered or missing gene from either one or both of your parents. Because the altered gene is in every cell in your body, including your stem cells, it is practically impossible to physically alter the gene. The only possible effective way that has been found is gene therapy.
A patient with amyotrophic lateral sclerosis (ALS) would be able to be diagnosed from a patient’s history and a physical examination. Although, the symptoms for this disease might not appear until the age of the 30 with the onset of age 55. A patient with ALS will experience muscle weakness, asymmetric involvement of muscles, decrease of body movements, flaccid and spastic paralysis, and not having control of autonomic, sensory or mental effects.
There are many known genetic diseases in the world. There are different types such as chromosomal and monogenic. Chromosomal disorders are when someone has too many or not as many chromosome as they are suppose to have (46 total chromosomes). Chromosomal disorders can also manifest when there are structural abnormalities. Monogenic disorders are an inherited medical condition caused by a DNA abnormalities. These diseases occur all throughout the world today. Depending on what region of the world you are in depends on what the most common ones are. Cystic Fibrosis has become the most common lethal genetic disease in the United States as of 1999. Although there are treatments available, there is not a known cure, and the effects remain burdensome
Genetic disorders occur when there is a problem with the DNA of an individual. These disorders can befall either on the first 22 chromosomes or the 23rd chromosome. Neurofibromatosis is one of these disorders, and it falls upon the first 22 chromosomes.
Genetic disorders can also be hereditary and can be passed down from generation to generation. There are two types of genetic disorders, single gene and multigene. Single gene focuses specifically on one gene while multigene disorders affect multiple genes and there are more of them. Moreover, single gene disorders are far more numerous than generally assumed, and as a group, they are certainly not rare (Ropers, 2010). As stated by Hans-Hilger Roper, single gene disorders are more rare than many might think. The chances of being born with a certain genetic disorder could possibly range from 1 in 500 to 1 in 10 million. While these numbers for a single genetic disorder might not be significantly high, the tens of thousands diseases bundled together adds
Approximately three to four percent of babies born every year are born with some kind of genetic disorder. A genetic disorder is described as an illness caused by an error in one’s genome, and is usually hereditary. To understand how these errors occur, one must first understand the basic concept of genes. Genes are the basic units of heredity and are made up of pieces of DNA that instruct the cell how to make specific proteins. Humans are estimated to have about 20,000 to 30,000 genes in their genome. Chromosomes contain these genes and DNA. Humans have 23 pairs of chromosomes or a total of 46 chromosomes. One pair of these chromosomes determines the sex of a person while the other 22 are autosomal, meaning that they determine the rest of
There are several types of genetic disorders. They all happen when a gene takes a turn during conception. Not everyone is born with a disorder but those who are have or more abnormalities in the genome. Genetic disorders may be hereditary, but others may be the first ones to ever have a their type of condition. No matter what the case is, everyone is human, but some have a little twist to their
Genes decide almost everything about our bodies, our eye colors, hair type, hair color, skin color, nose size, even the shape of our ear lobes. Our genes come from our parents, half from your mother and the other half from your father, and are found on our chromosomes which are inside cells. Most of the time everything goes good and the DNA divides successfully but sometimes a genetic disorders occurs, this happens when there is an abnormal biological development. This could be caused when the DNA divides and there is an error or by irregular single genes. Usually, these chromosomal abnormalities are just accidents that happen, meaning that they are a one-time incident and won’t affect any future pregnancies. But, the irregular single gene
Genetic disorders are problem caused by one or more abnormalities in the genome, especially a condition that is present from birth. My genetic disorder is called hemochromatosis. What hemochromatosis does is it affects the body’s ability to absorb iron. Because hemochromatosis is a genetic disorder, it is passed along from generation to generation and that is the only way that it can be passed along. There is around a total of one million people in the United States has contracted the genetic disorder of Hemochromatosis. There is a multitude of symptoms that can occur in the short term and the long term.
A genetic disorder or disease is a change or mutation in one’s DNA. A mutation is a change in the letters of the DNA sequence that makes up a gene. This sometimes can be referred to as a “spelling” mistake. Gene codes in proteins do most of the work, perform most life functions, and make up the majority of cell structures. When a gene is mutated, it can’t carry out it’s normal function, and a disorder can be the result. Genetic diseases can be inherited because they are found in the germ cells of the body, which therefore is involved in passing genetic information to the offspring. There can also be changes in DNA in the somatic cells, or the cells in the body that are not germ cells; these also can result in genetic diseases. An example of an