genetic disorders

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 genetic sequence. There are many different types of genetic disorders. A few of them are: Angleman syndrome, Hemophilia, Sickle-cell disease, Neurofibromatosis, Cri du chat, and Down syndrome. People are born with these diseases and have to face many challenges every day to live with these genetic mutations. This essay is going to specifically cover one genetic disorder called Amyotrophic lateral sclerosis.

Amyotrophic lateral sclerosis, also known as Lou Gehrig’s disease, is a genetic disorder that occurs in the nervous system. Each word in ALS briefly describes what the disorder is. Amyotrophic has two parts to it. The prefix “amyo” means muscular atrophy. Atrophy means to waste away, typically due to the degeneration of cells. The suffix “trophic” means that it is relating to feeding and nutrition. So to sum it up, amyotrophic means that the muscles have lost their nourishment. Lateral usually means the side of something. In this case, it means that the mutation is affecting the sides of the spine.

The sides of the spine are where the nerves that nourish the muscles can be found. Sclerosis is the abnormal hardening of body tissue. In this case its referring to how the mutated part of the spinal cord develops hardened or scarred tissue, in place of healthy nerves. The mutation damages nerve cells in the brain and the spinal cord. The damage caused by it, most of the time, leads to one’s death. After motor neurons die, the brain is unable to control muscle movement, and the victim becomes paralyzed. It targets the motor neurons that allow you to make voluntary movements and it effects your muscle strength.

Voluntary movements are movements in which you control. These are movements that require you to think about the action in order for it to happen. For example, lifting you leg to kick a ball is a voluntary action. Involuntary actions do not require any thinking and some happen automatically, such as your heart beating, or breathing. There are many symptoms in that come along with ALS. Most of the symptoms do not occur unless people reach the age of 50. Although there have been some cases, where the symptoms occur in younger people.

According to some studies, the first two muscles that are most often affected are the muscles that allow you to swallow and breathe. There can be many noticeable symptoms because your muscles get weaker. You may notice an increase in gagging, drooling, and choking. You may feel that you cannot lift your head up, because your neck muscles are weak. There are many physical tests that can be given to attempt to diagnose Amyotrophic lateral sclerosis. Certain physical tests could show muscle weakness in certain areas, weird walk or posture, and abnormal reflexes.

There are tests that can be used to diagnose ALS. One method is taking a blood test, so that the doctors can rule out any other possible disease that it could be. Victims can also receive a spinal tap, a MRI, or even a family background check to see if there is any history of ALS in the family. 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 example, being one of the smartest people on earth.

People that live with ALS every day. Once the symptoms start to show, and or get serious, they are unable to care for themselves. They are usually taken care of by a family member or even a close friend. In some serious cases, victims must remain at the hospital because they are unable to eat and function without medical assistance. As mentioned previously, the victims sometimes have to be fed through a tube because they are unable to chew. Living with ALS is a very hard thing to do. It’s hard for the family members, friends, doctors, and most importantly, the victim.