Understanding The Limitations Of A Person With Mcardle 's Disease

Do you know someone who is or was gravely affected by a disease? I do. My brother, Billy, was diagnosed with Type 1 Diabetes (T1D) when I was 10 years old. When we first realized that he was not feeling okay, we were at school when one of my friends’ mom noticed and told my mom. Before this incident, I was irresponsible and did not pay much attention to anyone other than myself.

In 2013 I lost my job due to an accident incurred at work. I was diagnosed with Reflex Sympathetic Dystrophy Syndrome. When I finally returned to work it made me realize how vital it is to be prepared for the unexpected in life. This was an experience humbling me financially and personally. This taught me not to lay victim in my circumstances. Had I become comfortable with life’s problems, it would have be the ongoing setback for my future successes in life.

Morquio syndrome is when the metabolism does not have enough or is missing a substance. These molecules are called glycosaminoglycans. When the body does not produce enough enzymes, serious problems can happen. Morquio A is a recessive inherited disease. Most of the time the disease shows up in 2 to 3 year olds.

Muscular dystrophy is a degenerating disease, in which the skeletal muscles degenerate, lose their strength, and cause increasing disability and deformity. Muscles attached to the bones through tendons are responsible for movement in the human body, however, in muscular dystrophy the muscles become progressively weak. As the muscle fibers

This disease is genetically inherited and is a dominant characteristic, therefore unfortunately the offspring of a victim has 50% chance of inheriting the disease.

Then one year later when I went in the hospital for them to see how I was doing Eve said the MS was active (meaning that the medicine is failing). I finally thought I was going to have an easy life with it but I was totally wrong. All the fear, anger, sadness boiled up in me.

According to the MediLexicon Medical Dictionary, muscular dystrophy is defined as a general term for a number of hereditary, progressive degenerative disorders affecting skeletal muscles, and often other organ systems (Staff). Basically what that means is that muscular dystrophy is a genetic disorder that is passed down that affects the skeletal muscles and other organs by slowly breaking them down. Since it is genetic, it is not contagious and you cannot catch it from someone who has it. MD weakens muscles over time, so children, teens, and adults who have the disease can gradually lose the ability to do the things most people take for granted, like walking or sitting up. Someone with MD might start having muscle problems as a baby or

Limb-girdle muscular dystrophy is another disease that causes weakness and wasting of the muscles. Limb-girdle muscular dystrophy (LGMD) is an extremely rare disease that specifically affects the bony structures that surround the hip and shoulders. The bony structures that surround

Genetic causes: multiple sclerosis is not a hereditary disease in the strict sense of the word, but to have a first degree relative, such as a parent or sibling, with the disease, increases an individual's risk of developing it, making many times higher than that of the population

The National Organization for Rare Disorders (NORD) says that MSUD happens to males and females at the same rate. The risk of having any form of MSUD depends if your parents have this disorder or not. If both of the parents have the disorder, each child has a 25 percent chance of getting two mutated genes and getting MSUD, the child would have a 50 percent chance from getting one normal gene from each parent. The parent or parents are not able to pass on the gene to their children if they have two normal genes for MSUD. (Healthline,

Myotonic Muscular Dystrophy, abbreviated MMD, is a disease that affects the muscles and organs of a body. To break Myotonic Muscular Dystrophy down, the word myotonic is the adjective for myotonia, which is an inability to relax muscles at will. Muscular dystrophy means the gradual muscle degeneration, which weakens and shrinks muscle tissue. Knowing the breakdown of MMD, this disease summed up means a person is restricted to relax their muscles at their own will whenever they would like ("Overview Myotonic Muscular Dystrophy"). MMD is also known as "Steinert Disease", which was named after a German doctor who first described the disorder in 1909 ("Facts About Myotonic Muscular Dystrophy").

Morgellons disease,is a constroverseol and mysterius disease. There are thousands who say they suffer from its bizzar symptoms. Symptoms include stinging,and crawling sensations under the skin,there body's sometimes grow strange stringlike fibers on the surface,and bright red rashes.Some patients have a physcial neurologic findings you an see,such as foot drop pulsy. Every patient has different neurologic decline, like brain fog (diffuclity doing everyday task). There are many in the world of science medicine that belive it's all in the mind. Now the government has weighed in,igknowledgeing that people are suffering,and excepting the need for proper sciencentific investigation. Cenus for diease control(CDC),are now doing a new study to try

Orphan diseases are rare diseases that affect less than 200,00 people nationwide. Due to the fact that they are not commonly found, they are are often overshadowed by more prevalent diseases, such as malaria or hepatitis. Therefore, this is often not enough government funding needed to research these diseases. Charcot Marie Tooth Disease (CMT) is one of the most common, yet unknown, rare neurological disorders. This disease mainly affects the nervous systems, often impairing motor skills and causing the decaying of muscles in the arms and legs. Charcot Marie Tooth Disease was first discovered in the early 1900s by Professor Jean Martin Charcot and Pierre Marie of France, and Henry Howard Tooth of England (Muscular Dystrophy Association). There

This disease is a genetic disease and it is hereditary. It is inherited as an autosomal recessive disease. This means that in order to get the gene you must receive a recessive trait from your mother and your father. The parents could both be heterozygous for the trait and therefore not have the disease, but instead they would both be a carrier. There are only a few ways that the parents could possibly pass the trait. One possibility of having a child with sickle-cell disease is if both parents are heterozygous and they both pass on their recessive allele, (25% chance for offspring to have sickle-cell disease). Another possibility

McArdle 's Syndrome is a muscle metabolism disorder that is caused by a deficiency of the glycogen enzyme muscle phosphorylase (Quinlivan). Muscle phosphorylase is the enzyme that breaks down glycogen during glycolysis. Without this enzyme, the body has a difficult time going through anaerobic glycolysis and can cause an individual to experience intense muscle pains. It is estimated that 1 in every 100,000 people will get McArdle 's Syndrome (Haller). McArdle 's Syndrome is a genetic disorder, so there is no preventing it. Even the unaffected child of an affected person will have a 50% chance of being a carrier, which means they could pass it on to their own children (Martín). Other common names for McArdle 's Syndrome are Glycogen Storage disease type V (GSDV) and McArdle disease (Martín, Quinlivan).