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.
...hromosome and the disease/disorder is passed down in an X linked recessive fashion. Symptoms include muscle weakening and wasting, and pain in the lower body. Mostly only the lower body’s muscles are affected causing the child to have to be confined to a wheelchair. The best way to diagnose Duchenne Muscular Dystrophy is by doing a muscle biopsy to test for abnormal dystrophin levels. There is no treatment for the disease/disorder itself, but only for the symptoms of it. The average age of death in males with Duchenne Muscular Dystrophy is the late thirty’s. Most deaths are caused by breathing complications or heart problems like cardiomyopathy. Duchenne Muscular Dystrophy on average affects one in thirty five hundred male births worldwide. Overall, Duchenne Muscular Dystrophy is very hard to live with and affects many boys around the world.
Neurodegeneration is used mainly for diseases that are characterised by progressive loss of structure and function of neurons. There are many neurodegenerative diseases including amyotrophic lateral sclerosis that...
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)
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
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....
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
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
1 in every 5600 males have muscular dystrophy. Though the disease is most commonly found in males, females are equally likely to get the genetic abnormality.
In thousands of genes, one undergoes a mutation in proteins crucial to the entire muscle construction. When a protein is modified, an inadequately amount is composed, or is ultimately omitted the cells in the body do not function properly. Spontaneous mutations are frequently the cause of a multitude of Muscular Dystrophy developments. These mutations do not originate from parents however, this deficiency can be transmitted once they have transpired. An individual’s characteristics are established by encrypted information enclosed in genes. Genes are orchestrated along 23 rod-like sets of chromosomes, with 50% of every pair being acquired from each parent. Aside from the set of chromosomes which decides a person’s sex, all pairs of chromosome halves are very much alike. There are three way in which Muscular Dystrophy can be inherited: Autosomal dominate, Autosomal recessive, and X-linked recessive. Autosomal means in each of the body cells a genetic mutation can be generated in any one of the 22 non-sex chromosomes. Autosomal dominate develops when a child obtains from one parent an abnormal gene, and from the other a normal gene. Dominate means, in order to produce the illness only one parent is required to transfer the abnormal gene. There is equally a 50% chance a child, male or female, will receive the gene as well as the disorder when Autosomal is dominate and the severity is different for each individual. When a
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.
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.
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