Wait a second!
More handpicked essays just for you.
More handpicked essays just for you.
duchenne muscular dystrophy case study
duchenne muscular dystrophy case study
muscular dystrophy case study
Don’t take our word for it - see why 10 million students trust us with their essay needs.
Recommended: duchenne muscular dystrophy case study
Disease
Muscular dystrophy is a disease characterized by the weakness and deterioration of skeletal muscles. There are over 30 different forms of muscular dystrophy but the two most common are Duchenne and Becker Muscular Dystrophy (Baroncelli). These two forms of the disease are sex linked, affecting primarily males. A male usually inherits a faulty X chromosome from his mother and receives no other X chromosome to offset the faulty one (males are XY). Affected persons have difficulty performing daily tasks and eventually lose the ability to walk. However, a faulty X chromosome inherited by a female can be offset by a normal X chromosome inherited from the other parent (females are XX). Females are the typical carrier of the disease which mainly becomes expressed when their sons inherit a faulty X chromosome. Both forms of muscular dystrophy result from mutations in the DMD gene which results in an inability to produce a functional or sufficient amount of dystrophin, the protein that strengthens and protects muscle fibers. Without effective dystrophin the muscle fibers weaken and di...
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)
Muscular Dystrophy is a diverse group of disease which involves the weakness and wasting of muscles and leads to many other problems in physiological system. It is because of mutation in gene related to contraction and relaxation of muscles. Although recently no perfect treatment option is available for it but in nearby future cure of this disease will be available due to advanced technology and methods like gene therapy and stem cell technology.
Genetic disorders can be caused by many of the 46 chromosomes in human cells. This specific disorder is linked to a mutation in the long arm of the X, or 23rd chromosome. The mutation is recessive, meaning a normal X chromosome can hide it. Females have two X chromosomes allowing them to hide the mutated recessive one, making them a carrier of the gene, while males only have one X chromosome, meaning that they are unable to hide the mutation and they become effected by the disease. Therefore if a male carries the gene, he is affected because he has no way of dominating the recessive gene, but if a female carries it, she is only a carrier and has a 50/50 chance of passing it on to her baby. This may seem like a high probability however, only one in every fifty thousand male births will have this immunodeficiency disease.
Emery-Dreifuss muscular dystrophy is a rare form of muscular dystrophy characterized by early onset contractures of the elbows, achilles tendons and post-cervical muscles with progressive muscle wasting and weakness It is also associated with heart complications like cardiomyopathy and arrhythmia which in both cases can lead to death. Cardiomyopathy is a heart disease which affects the muscles of the heart. In cardiomyopathy is muscles get rigid, enlarged or thick. They also sometimes changed by scar tissues. On the other hand arrhythmia is a disorder with the rhythm or rate of heartbeat. The heart can beat fast, which is called tachycardia or it could be beating too slow, which is called bradycardia. Emery-Dreifuss muscular dystrophy is characterized by early onset of contractures and humeroperoneal distribution. Humeroperoneal refers to effects on the humerus and fibula. The genes known to be responsible for EDMD encode proteins associated with the nuclear envelope: the emerin and the lamins A and C.
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.
The Duchenne gene has been located on the short arm of the X chromosome. This means that Duchenne muscular dystrophy is inherited as an X-linked recessive disease. Females have two X chromosomes, while males have one X chromosome and one Y chromosome. Therefore, in females, a normal X...
Skeletal, smooth, and cardiac muscles play a vital role in the everyday processes that allow the human body to function. Without these muscles, everyday tasks and functions could not be conducted. Injury to these muscles could cause serious problems, however, these muscles have the ability to regenerate, repair, and fix multiple problems all by themselves. Repair and regeneration of a muscle are two similar, yet different things. Repair restores muscle continuity so that it can continue to function in the same way as before injury, but does not completely restore the pre-injury structure like regeneration (Huijbregts, 2001). Muscle repair and regeneration take place after an injury, after surgery, after atrophy, and even after working out.
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).
Muscular Dystrophy (MD) is a disease that weakens the musculoskeletal system and affects the ability to move. MD also affects groups of muscles. In the 1860’s it was described that boys were progressively growing weaker, losing the ability to move and died at an early age. A decade after the first description a French, neurologist named Guillaume Duchenne gave account for thirteen boys with the most common and severe forms of Muscular Dystrophy. MD is being caused by a mutation of a gene within the X chromosome, and affects predominately males. Most MD are multisystem disorders and can affect other body systems that include the heart, gastrointestinal, nervous system, endocrine glands, eyes and brain. There are over 50,000 people in the United States that are diagnosed or living with muscular dystrophy.
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)
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.