Spinal Muscular Atrophy, also known as “SMA” is a genetic and also a motor neuron disease that affects the area of the nervous system that controls your voluntary muscle movements such as walking, crawling, and swallowing. When someone acquires this condition their muscles start to shrink as a cause to the muscles not receiving signals from the nerve cells in the spine that control function. Spinal Muscular Atrophy is a rare but serious condition.
Spinal Muscular Atrophy affects about 8 out of every 100,000 live births and also causes death among more babies than any other genetic disease out there. About one in every forty people has this gene in them but may not have SMA so they are a genetic carrier. But in order for a child to have SMA, both parents have to carry the mutated gene and passed it to the child. Therefore this causes the child to have double copies of the abnormal gene. About 1 in 40 men and 1 in 80 women are carriers of the gene.
Survival Motor Neurons are a protein that is produced by the survival motor neuron gene 1. The SMN protein is found all over the body, especially containing high levels in the spinal cord. This protein is important for maintaining specialized nerve cells called motor neurons that are located in the spinal cord and brainstem. When a person have An abnormal or missing SMN1 it causes serious problems due to the fact it isn’t receiving the proper communication from these cells resulting in nerve cells shrinking and over time dying.
SMA is broken down into having four types. In order to determine the type you have is based on the physical achievement because each person is different. SMA is not a progressive disease, although over time people with this lose ability to coordinate due ...
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...can see if this condition runs in the family. A physical examination is a good way to tell is there is any type of muscle weakness or spinal curvature.
Treatment for Spinal Muscular Atrophy is currently unavailable to correct this condition. But a person can take other steps to try to help comfort the situation they are in but there is no stopping it. Physical therapy is important because it can help work the muscle to prevent contraction of them. Breathing machines are an important to have because a lot of trouble falls under the breathing when the weakness of these muscles occurs.
In conclusion there are a lot of conditions to be aware of that people don’t really think of. It is important to take precautions and pay attention to symptoms and conditions are body shows us. And get educated about different disease out there to protect our families and ourselves.
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.
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.
There are many ways to categorize illness and disease; one of the most common is chronic illness. Many chronic illnesses have been related to altered health maintenance hypertension and cardiovascular diseases are associated with diet and stress, deficient in exercise, tobacco use, and obesity (Craven 2009). Some researchers define the chronic illness as diseases which have long duration and generally slow development (WHO 2013); it usually takes 6 month or longer than 6 month, and often for the person's life. It has a sluggish onset and eras of reduction for vanishing the symptoms and exacerbation for reappear the symptoms. Some of chronic illness can be directly life-threatening. Others remain over time and need intensive management, such as diabetes, so chronic illness affects physical, emotional, logical, occupational, social, or spiritual functioning. Chronic diseases, such as heart disease, stroke, cancer, chronic respiratory diseases and diabetes, all of these diseases are the cause of mortality in the world, representing 63% of all deaths. So a chronic illness can be stressful and may change the way a person l...
Obvious signs include crooked spine while bending over, fatigue, shortness of breath, uneven hemline on shirts, and an asymmetrical waistline. Less obvious signs must be detected by health professionals through early screening, or diagnosed by your physician during a comprehensive physical exam.
Amyotrophic Lateral Sclerosis is a disease that everyone should fear. Once the disease is in your body, there is no found cure but riluzole therapy is something that may extend life expectancy. Odds are for every 100,000 years, 2 people acquire the disease, with the majority being of the male sex. “Most people who develop Amyotrophic Lateral Sclerosis are between the ages of 40 and 75, with the majority after age 60, although it can occur at a younger age.” Amyotrophic Lateral Sclerosis may still be developed at a young age but it is very rare. Stephen William Hawking turns out to be a very rare man. http://www.alscenter.org/living_with_als/facts_statistics.html
A-myo-trophic comes from the Greek language. "A" means no. "Myo" refers to muscle, and "Trophic" means nourishment – "No muscle nourishment." When a muscle has no nourishment, it "atrophies" or wastes away. "Lateral" identifies the areas in a person's spinal cord where portions of the nerve cells that signal and control the muscles are located. As this area degenerates it leads to scarring or hardening ("sclerosis") in the region (ALS 1).
Multiple sclerosis is a disease that causes demyelination (disruption of the myelin that insulates and protects nerve cells) of spinal nerve and brain cells (Luzzio & Talavera, 2017). MS occurs when the immune system attacks a fatty material called myelin. Myelin is a sheath-like material that forms a cover and protects nerve fibers. A nerve fiber is a threadlike extension of a nerve cell and essentially consists of an axon and in some cases a myelin sheath. Axon transfers electrical impulse from the cell body to neurons. Myelin is designed to protect axons. When myelin is damaged, demyelination occurs, which leads to nerve dysfunction and slowed or blocked nerve communication between the brain and the rest of the body. The s/s of MS in my
MD (Muscular Dystrophy) is a rare genetic abnormality that causes cells to malfunction and “forget” to create the proper amount of proteins for healthy muscles. Muscular Dystrophy is a genetic abnormality that hinders people from producing the correct amount of protein need to sustain healthy muscles. The disease is usually undetected for about 12-18 months until a baby begins to attempt sitting up on its own or walking. The lack of proteins in the muscles make it hard to sit up. Additionally the proteins missing result in the muscles being weak. There are about 7 major types of MD. These 7 types include DMD (Duchenne Muscular Dystrophy), BMD (Becker Muscular Dystrophy) and a whole lot more types known to man, but I want to focus on one, DMD. Again there lot more types of MD than can be listed so it is better to focus on just one.
In conclusion, Muscular Dystrophy belongs to one of the rare disorders in the world, but even though people who live with it are suffering from pain and abnormality. MD is different for everyone, some may show slow progress and weakness, which is much easier to handle and live with, whereas, others rapidly move with huge dystrophy and become fully immobilize. Nevertheless, families and patients with Muscular Dystrophy should find effective ways through available resources and institutions to come to light, because MD should not keep any child from enjoying their live and being part of the
Muscular Dystrophy is type of genetic disorder consisting of 30 characterized genetic diseases. Essentially, Muscular Dystrophy reduces the strength of the muscles in your body until eventually they degenerate and lose all function. Each type of this rare disease varies in its affects, symptoms, and severities. However they are all commonly caused by dissimilar genes accompanied by imperfections.
Symptoms: In SMA types 1 through 3, symptoms vary from severe to mild, based on how much SMN protein there is in the nerve cells called motor neurons. The more the SMN protein is, the milder the course of the disease is likely and symptoms show up later in life.
Duchenne Muscular Dystrophy is caused by the mutation of the necessary muscle protein dystrophin that occurs on the X chromosome, and due to the way the disease is inherited it usually affects males. Males have only one copy of the X chromosome from their mother and one copy of the Y chromosome from their father. If their X chromosome has a DMD gene mutation, they will have Duchenne muscular dystrophy. According to the US National Library of Medicine (www.nlm.nih.gov) the sons of females who are carriers of the disease (women with the defective gene, but have no symptoms themselves) each have a 50% chance of having the disease. The daughters each have a 50% chance of being carriers, but very rarely
However, it can be developed also in guys after becoming sexually mature. During growth spurts, idiopathic scoliosis signs are shown as part of the body would be not level and the squashing of the ribs may cause problems in inhalation if it is severe. Management will be done depending on the adolescent spine turning is mild, moderate or severe. Pediatric Association Orthopedic Society of North America and the Scoliosis Research Society clarifies that if the vertebral turn is among 25° and 45° the child would be suggested by a doctor to attire a brace ( Idiopathic Scoliosis in Children and Adolescents [ISCA-AAOS],2015,pg.4). However, age is important as if it is severe more severe insurances may be taken into consideration. Pediatric Association Orthopedic Society of North and the Scoliosis Society also be certain of that there is no scientific explanation for the formation of idiopathic scoliosis but they clarified that children wearing heavy equipment on their backs does not had anything to do with the curvature of the spine in idiopathic scoliosis. (ISCA-AAOS, pg.2).However they do believe there is a gene that possibly associated with idiopathic scoliosis malformation. Therefore, further studies had been in progress if there are other genes that can be found in scoliosis.
Duchenne’s Muscular Dystrophy is an X-linked recessive genetic disorder caused by a deficiency in the protein dystrophin, which is found in muscle cells. This X-linked disorder is usually only found in males. It has very rarely been found in females because they have two X chromosomes and the disease is recessive. The reason only males get DMD is because the source of the disease is found on the X chromosome of heterozygous females (Cummings, 108). They pass it on to one half of their sons and to one half of their daughters who become carriers....
Scoliosis is a lateral curvature in the normally straight vertical line of the spine. According to WebMD, when viewed from the side, the spine should show a mild roundness in the upper back and shows a degree of swayback (inward curvature) in the lower back. It is very noticeable when looking to see if a person has scoliosis. A person with scoliosis will have uneven shoulders, uneven waist, a more distinctive shoulder blade, or a hump towards the top of the spine. There are four different types of scoliosis but the most common is Idiopathic Scoliosis, which has no specific cause. Some of the more serious types of scoliosis, like congenital or degenerative, are caused by an abnormality at birth or a traumatic accident. Scoliosis most