Imagine being a parent and discovering that your child won’t be able to walk by the age of 12 and won't live past the age of 20. This has become a reality for many parents as they find out that their child has a form of muscular dystrophy. This particular type of muscular dystrophy is referred to as Duchenne Muscular Dystrophy, which is a genetically inherited disorder that is the most common and severe of all muscular dystrophies. It is found in 1 of every 3,500 males and is characterized by progressive muscle wasting. It is caused by the lack of dystrophin, which is a protein found in the cell membrane of muscles.
One early clinical sign of the disease is the child showing a late start in walking and sometimes they are referred to as a late bloomer. Usually when the child walks they have a waddling motion and sometimes they walk up on their toes. Usually, hypertrophy, or enlarging of the muscles, especially in the calves is noticed. However, the hypertrophy is actually caused by adipose (fat) tissue, which replaces the muscle tissue. This may make the muscles larger, but it doesn’t make them any more useful (Cummings, 213). Another clinical sign of DMD is small amounts of mental retardation or learning disabilities. Although this is not apparent until the child is older, it is a common pattern that is found in children with DMD. There have been many studies done to determine what exactly causes the mental retardation. Researchers did a study in the early 1990’s and found that the protein dystrophin was not only found in the muscles but also in the brain’s cortex, cerebellum and hippocampus (Wahl). This has led researchers to believe that if the muscles were lacking the dystrophin to cause the muscle degeneration then the brain must also be lacking the dystrophin, which could lead to different learning disabilities that are sometimes found in an individual with DMD.
Duchenne’s Muscular Dystrophy is an X-linked recessive genetic disorder caused by a deficiency of 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...
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...t families with DMD and fund research projects.
In conclusion, Duchenne Muscular Dystrophy is a severe form of muscular dystrophy that causes progressive muscle degeneration. Its main cause is the lack of the protein dystrophy that is necessary for the muscles to function properly. It is tough for the victims and their families because there is no definite cure and they usually don’t live past the age of 20. Hopefully in the future, technology will enable researchers to be able to find a cure that will be a 100 percent effective when used. Until that time comes, all DMD victims can do is wait and hope.
Bibliography
Cummings, Michael R. & William S. Klug. Concepts of Genetics 4th Ed. New York: Macmillan College Publishing Company, 1994
“Duchenne Muscular Dystrophy”, www.rlc.dcccd.edu/MATHSCI/reynolds/MO/dmd2.html. October 25, 1999.
“Stem Cells Join Pipeline in Fight Against DMD.” www.mdausa.org/publications/Quest/q66resup.html. December, 1999.
“Study Impacts Muscular Dystrophy.” http://personal.neworld.net/~woliver/news.html. July, 1999.
Wahl, Margaret “The Brain in Duchenne Muscular Dystrophy.” www.mdausa.org/publications/Quest/q41braindmd.html. January, 1997.
Duchenne Muscular Dystrophy, also known as DMD, is the most common form of muscular dystrophy. Muscular dystrophy is a condition that is inherited, and it is when muscles slowly become more and more weak and wasted. Duchenne muscular dystrophy is a form of muscular dystrophy that is very rapid and is most commonly found in boys. In muscle, there is a protein named dystrophin. Dystrophin is encoded by the DMD gene. When boys have Duchenne muscular dystrophy, they do not produce enough dystrophin in their muscles. This causes weakness in their muscles. Parents can tell if their child has duchenne muscular dystrophy by looking for various symptoms.
Duchenne muscular dystrophy (DMD) is a muscular dystrophy that only occurs in boys. It is caused by the mutation of the DMD gene which is inheritable between families in an X-linked recessive, but it rarely occurs in people from families without a known family history of the condition. Starting from the lower limbs, people with DMD have progressive loss of muscle function and weakness. The DMD gene, which encodes the muscle protein, dystrophin, is the second largest gene. Boy’s muscle with Duchenne muscular dystrophy does not create the dystrophin. 1 in 3500 of the male births are approximately affected by the Duchenne muscular dystrophy.
Duchenne's muscular dystrophy, also known as psuedohypertrophic muscular dystrophy, is a typical sex-linked disorder in which the muscles degenerate throughout a person's life. It literally means "faulty nutrition of the muscles." Muscular Dystrophy has no cures, and this particular type of muscular dystrophy affects only males. One in 3,500 baby boys are born with this disorder and survival is rare beyond the early 30s, death is usually caused by a respiratory disease. (ygyh.org)
Physiological Basis of disease: DMD is the commonest and most serious form of the dystrophies. The gene responsible for dystrophin which, when absent, causes DMD. Amount of dystrophin correlates with the severity of the disease (i.e., the less dystrophin present, the more severe the phenotype). Since the gene is on the X chromosome, it primarily affects males, and females who are carriers have milder symptoms ( www.nlm.nih.gov/medlineplus/ency/article/000705.htm).
Muscular Dystrophies are genetic disorders that are distinguished by degenerative muscles and weakness in the muscles. Duchenne muscular dystrophy is a dominant sex-linked disorder that mostly affects males, and it affects one in 3,500 males (Furlong, 2015). Males inherit Duchenne Muscular Dystrophy when they get an X chromosome (they inherit the chromosome from their mother) with a mutated dystrophin gene. Since males only have one X-chromosome (males have XY, females have XX), they are more vulnerable. If a female inherits only
Duchenne muscular dystrophy, also known as DMD, the most common type of muscular dystrophy, is caused by the incorrect information with the gene that generates a protein called dystrophin. The function of this protein is to help muscle cells keep their strength and shape. Without the presence of this protein, muscles begin to deteriorate and a person’s health becomes weaker. Duchenne muscular dystrophy is one of the types that affect boys, and symptoms of the disease begin to show between the ages of two and six. Most children with duchenne muscular dystrophy will require transportation by wheelchair by the age of ten or twelve. Patients with duchenne muscular dystrophy may experience heart c...
Myotonic dystrophy, type 1, is a genetic disorder which is linked to chromosome number 19 in humans. The dystrophia myotonica protein kinase gene is located on the q arm of the chromosome at the locus of 13.32. It is an autosomal dominant disorder, which means that the individuals that are affected by this disorder and contain at least one dominant allele for the dystrophia myotonica protein kinase gene. The disorder is caused by a series of repeats of a trinucleotide region that is expanded beyond the normal levels (Musova et al., 2009). The trinucleotide region is a series of repeats of CTG in the untranslated region of the dystrophia myotonica protein kinase gene. The severity of the disorder is associated with the number of repeats the individual has within the gene. Normal individuals tend to have between 5 and 37 repeats while an individual with a very mild myotonic dystrophy may have 50 to 150 repeats, and if the disorder is discovered at the time of birth the individual will have over 2,000 repeats of the trinucleotide region (Musova et al., 2009). Myotonic dystrophy, type 1, affects multiple organ systems of the body and is relatively slow to progress. Myotonic dystrophy, type 1, is categorized by alterations of the beating pattern of the heart, faulty dystrophin proteins, clouding of the lens of the eye, decreased functionality of the gonads, balding, and myotonia (Musova et al., 2009). Myotonia is described as the slow relaxation of any muscle type, which will cause the individual to use extended effort to simply relax the muscles after they have been contracted. Muscular dystrophy causes an individual to experience muscular deg...
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).
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
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 (DMD) is a form of a rapidly progressive muscular dystrophy that is the utmost deadly disorder diagnosed in childhood effecting children. DMD can occur as early as infancy and as late as age six. The disorder affects mostly males, because the Duchenne gene is located on the X-chromosome. DMD happens across all races and through rare, females can be diagnosed. The mutated DMD gene is typically inherited in a recessive manner, however it often occurs in families with no known history of the illness.
One disease that one can get in the muscular system is Cerebral palsy. Cerebral palsy is known as one of the most common congenital disorders. It impacts the balance and motor functions along with the posture. When there is brain damage to a child at a young age it being before it was born or after, it causes a loss of muscle tone. When they lose muscle tone it makes it difficult for the person to go on with their everyday lives and perform the normal tasks needed each day.
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.
After watching the video: My father, My Brother, and Me, viewable at www.pbs.org , I took away four significant concepts pertaining to PD. The first concept is that although there is not a definitive cause to this disease, research has shown that factors such as genes and toxic chemicals may play a pivotal role in the onset. The second concept is that PD normally does not get diagnosed until the disease has progressed significantly and symptoms are more prominent. The third concept is that PD is a degenerative disease that results from a lack of dopamine-producing brain cells. Finally, the fourth concept that I took away from the video is that there currently is no cure for PD.
Duchenne muscular dystrophy was first described by the French neurologist Guillaume Benjamin Amand Duchenne in the 1860s, but until the 1980s, little was known about the cause of any kind of muscular dystrophy. In 1986, MDA-supported researchers identified a particular gene on the X chromosome that, when flawed (mutated), leads to DMD. In 1987, the protein associated with this gene was identified and named dystrophin. Lack of the dystrophin protein in muscle cells causes them to be fragile and easily damaged.