Addie Lutz
Ms. Tinervin
English III
May 23, 2014
What is SMA?
The thought of never being able to walk or crawl is unimaginable. We take for granted how truly blessed we are. Even the simple task of walking or even standing may seem like moving mountains to the children who suffer from Spinal Muscular Atrophy (SMA). Some go their whole lives without knowing what it is like to even crawl. SMA is the number one genetic killer in infants under two (What is Spinal Muscular Atrophy?) it affects people for the rest of their life and the disease is devastating, so why is it taking a backseat to other infant diseases such as SIDS?
SMA is a genetic disease. It is caused by a missing or mutated gene, the survival motor neuron gene 1 (SMN1). Without the mutation, the gene produces protein, survival motor neuron (SMN) protein. People with this mutated gene have significantly lower amounts of this protein, which in turn causes severe motor neuron problems. “Motor neurons are nerve cells in the spinal cord which send out never fibers to muscles throughout the body.” SMN is a critical protein to motor neuron survival and health. Without this protein nerve cells may shrink and eventually die, resulting in muscle weakness. As children with SMA grow it becomes difficult for their already weak muscles to perform daily activities. As a result their muscles continue to get weak, their bones and spine may continue to change resulting in breathing problems and further loss of function. SMA affects the motor neurons so the brain is never affected (Understanding Spinal Muscular Atrophy). This disease is not as rare as one would think about one in 40 people unknowingly carry this disease (Spinal Muscular Atrophy).
SMA is a degenerative disease. The late...
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... the leading killer of infants between one month and one year of age. The cause of SIDS is unknown but it accounts for about 40% of infant deaths in the U.S. (William 14-15). Approximately 2,500 kids die from SIDS each year in the United States. There are 4,131,019 births in the US yearly (Pearson Education Inc). Of those births about 700 will be born with SMA and have to face the limitations for the rest of their lives (Spinal Muscular Atrophy Facts, SMA Information). In the U.S. there are approximately 45,333 people who suffer from SMA (Statistics by Country for Spinal Muscular Atrophy) and 7.5 million Americans who are carriers (Spinal Muscular Atrophy Facts, SMA Information). So many people may have this disease and never even know, then one day the symptoms appear and their life will be changed forever. Facing the difficult tasks of walking and even standing.
What is scoliosis? Scoliosis is a musculoskeletal disorder that causes the back to curve sideways like and “S” or a “C” and cause the body to lean to one side. Scoliosis can eventually if not looked into and not treated colid with your bodily organs like your heart, lungs, and kidneys. This can cause you to slump down into a hump and cause it hard to breath and do physical activity.
DMD also known as muscular dystrophy is muscular disease that occurs on young boys around age four to six. Muscular dystrophy is genetically transmitted disease carried from parent to offspring. This disease progressively damages or disturbs skeletal and cardiac muscle functions starting on the lower limbs. Obviously by damaging the muscle, the lower limbs and other muscles affected become very weak. This is ultimately caused by the lack dystrophin, a protein the body produces.
From year to year, the number of SIDS deaths tends to remain constant despite fluctuations in the overall number of infant deaths. The National Center for Health Statistics (NCHS) report...
Muscular dystrophy (MD) is a genetic disorder that weakens skeletal muscles, the muscles that enable the human body to move. People with muscular dystrophy have missing or incorrect information in their genes, which prevents them from making the proteins they need for healthy muscles. Due to fact that muscular dystrophy is genetic, it is not contagious or contractible from another person; a person must be born with the problem.
We know babies die from SIDS and they have been looking high and low for a cause. Everyone seems to want a neat and tidy answer to what has happened to these babies, and I understand why. I believe co-sleeping has been given a bad reputation because people need something to blame and not based on actual scientific evidence. Dr. William Sears suggests that, “In those infants at risk for SIDS, natural mothering [unrestricted breastfeeding and sharing sleep with baby] will lower the risk of SIDS” (Sears, "Cosleeping and Biological Imperatives").... ...
Muscular Dystrophy is a genetic disorder in which your muscles drastically weaken over time. Muscles are replaced with “connective tissue,” which is more of a fatty tissue than a muscular one. The connective tissue is the tissue that is commonly found in scars, and that same tissue is incapable of movement. Although Muscular Dystrophy affects muscles in general, other types affect certain groups of muscles, and happen at different periods throughout a lifetime. For example one of the most common types, Duchenne Muscular Dystrophy, targets muscles in the upper thigh and pelvis. The disease is displayed throughout early childhood, usually between ages four and seven. This genetic disorder occurs only in boys. People have difficulty sitting up or standing and lose their ability to walk in their early teens. Sadly most people die by the age of twenty. A second common type, Becker’s Muscular Dystrophy affects the same muscles as Duchenne, but first appears in teenage years. Most people with Becker’s only live into their forties (Fallon 1824-1825).
It is estimated that 1 out of every 5,600-7,700 boys ages 5-24 have Duchene or Becker muscular dystrophy. (“Data & Statistics,” 2012 April 6) Muscular dystrophy is a group of genetic diseases defined by muscle fibers that are unusually susceptible to damage. There are several different types of muscular dystrophy some of which shorten the affected person’s lifespan. (“Muscular dystrophy: Types and Causes of each form,” n.d.) There is a long history of the disorder but until recently there wasn’t much knowledge of the cause. (“Muscular Dystrophy: Hope through Research,” 16 April 2014) Symptoms are obvious and can be seen as soon as a child starts walking. (“Muscular Dystrophy,” 2012 January 19) Although muscular dystrophy mostly affects boys, girls can get it too. (“Muscular Dystrophy,” 2012 January 19) There is no cure for muscular dystrophy but there are several types of therapy and most types of muscular dystrophy are still fatal. (“Muscular Dystrophy: Hope through Research,” 16 April 2014)
Amyotrophic lateral sclerosis, or ALS, is a degenerative disease affecting the human nervous system. It is a deadly disease that cripples and kills its victims due to a breakdown in the body’s motor neurons. Motor neurons are nerve cells in the brainstem and spinal cord that control muscle contractions. In ALS, these neurons deteriorate to a point that all movement, including breathing, halts. Muscle weakness first develops in the muscles of body parts distant from the brain, such as the hands, and subsequently spreads through other muscle groups closer to the brain. Such early symptoms as this, however, can hardly be noticed.
Therefore, although the role of SMN protein in motor neurons is not completely understood and the amount for normal functioning undefined, the phenotype of spinal muscular atrophy (type I, II, III, or IV) is largely related to the number of SMN2 gene copies present. The number of copies of SMN2 in individuals diagnosed with SMA has been found to negatively correlate with disease severity. For instance, infants diagnosed with SMA type I, are likely to have two copies or less of SMN2 and individuals with SMA type III and IV are likely to have three copies or more (Mailman, et al., 2002)
Symptoms can appear at any age normally between infancy and age six. Normally, the first symptom of duchenne muscular dystrophy is a delay in milestones that normal children have. For example, there may be a delay in when a child with DMD learns to walk, sit or stand by themselves. Children without duchenne muscular dystrophy normally begin to learn to walk at around nine to twelve months, and can walk well around fourteen to fifteen months. Parents and doctors become concerned after sixteen to seventeen months. However, the average age that a child with duchenne muscular dystrophy begins to walk is eighteen months. In muscles in the legs and pelvis, there is progressive weakening and wasting. There is also a little weakness found in the neck, arms, and other upper body muscles, but the weakening in worse in the lower half of the body. Muscles weaken by enlarged muscle tissue being replaced by connective tissue and fat. Muscle fibers then shorten due to the r...
A general description of SIDS is rather difficult to come by, mainly because of the overwhelming vagueness of the disease and its questionable etiology. Out of all SIDS deaths, 90% occur in infants less than 6 months of age. In deaths occurring in infants between 2 and 4 months of age, 70% are due to SIDS. These deaths are most likely to occur during the winter and fall months. Roughly 3,000 – 4,000 babies die of sudden infant death in the United States annually.
Giving life to a baby suffering from a serious metabolic disease or disability, and watching the baby suffer can be highly traumatising for the family as well as the newborn
Imagine a couple who has just found out that they are pregnant. Just like other parents, they want nothing more than to have a happy, healthy baby. Last year, these parents were my neighbors. Although they did not know it, their daughter Kelsey was going to be born with spina bifida and have no feeling in her lower left leg because of it. Most people have never even heard of spina bifida or know what it is. According to the Center for Disease Control and Prevention, “Each year, about 1,500 babies are born with spina bifida” (“Data and Statistics”). This is a problem and it should not go unnoticed. We need to educate people on the importance of this defect and what can be done about it.
With motor neurone disease it attacks the nerves, in the brain and spinal cord. This means messages gradually stop reaching muscles, which leads to weakness and wasting. In the case study the
This is a neurodegenerative disease, meaning it results in progressive loss or death of neurons. It often starts off with effecting simple motor skills like writing and holding things, after a few months usually patients start losing the ability to walk, talk, or move any of their limbs. Although the brain trauma is what causes it, ALS has little-no-effect on the brain. This fatal disease is typically diagnosed around age 60 and most patients are given about 3-5 years to live after being diagnosed. It has been found that 10% of cases are shown as genetic. It was brought to attention that athletes were beginning to get diagnosed with ALS at a younger age than most. After extensive research in the early 2000’s, Brain Analyst, Dr. Mckee ran tests and finally came to the conclusion that the toxic proteins in the brains of ALS patients were coming from repeated blows to the head. It was then made evident why so many athletes in contact sports such as football, soccer, boxing, etc… were being diagnosed at such a young age and more frequently than