Wait a second!
More handpicked essays just for you.
More handpicked essays just for you.
Various genetic disorders
Various genetic disorders
Muscular dystrophy case study
Don’t take our word for it - see why 10 million students trust us with their essay needs.
Recommended: Various genetic disorders
Duchenne Musclar Dystrophy is a hereditary disorder that is typically identified during childhood. This disorder primarily affects boys and nearly 1 in every 3,500 male children are affected (NHGRI, 2013). The disorder itself causes severe muscle weaknesses because of the body’s inability to produce the protein dystrophin (NHGRI, 2013). Dystrophin is a special protein that binds the membranes of the muscles (PPMD, 2014). This binding helps muscle cells grow and lengthen, and it maintains healthy structures for typical development. Without this protein the muscles in the human body will not grow, develop, or operate properly and progressive damage will occur (PPMD, 2014). Progressive muscle weakness leads to high amounts of bone damage, increased …show more content…
For severe cases anti-congestive medication can be used, and the prednisone steroid is commonly used to improve function ability and provide strengthening (NHGRI, 2013). Therapy is also helpful, and the use of assistive devices can help with respiratory challenges as well. For more severe cases surgery is another option (NHGRI, 2013).
The progression of DMD can be organized in four stages. Stage one is called the Early Phase which is when a child has been diagnosed with DMD (PPMD, 2014). This will typically occur between the ages of 2 and 7. The most common first signs of this disorder are connected to speech delay and the child’s inability to meet their peer population expectation level. Some physical symptoms may include falls, muscle weakness, fatigue, difficult sitting, running, jumping, and climbing, slow mover, and lack of flexibility (PPMD,
…show more content…
This phase progresses into more weakness. As a result most boys during this stage will need to use a power wheelchair for regular everyday mobility. The use of arms, legs, and upper body trunk areas will only be acquirable by assistance or machine-driven support. Fatigue will be more noticeable and will occur often. During this progression stage it is possible that the teen will develop scoliosis which is a curving of the spine that is caused from weak back muscles and the act of sitting for long amounts of time (Mayoclinic, 2012). Additionally, this may lead into muscle cramps and the on start of various physical
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.
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.
There are a variety of ways to treat a collapsed lung, and different methods are used depending on the severity of the situation. The ultimate goal of the treatment is to restore lung function by removing external pressure on the
It incorporates dietary advising, exercise training, and mental guiding. There are also numerous surgical treatment alternatives. For example, the removal of nasal polyps that block breathing, oxygen treatment to prevent pulmonary hypertension, endoscopy and lavage to suction mucus from airways, the surgical insertion of a feeding tube may be important to convey supplements while sleeping. In cases where life-threatening lung complexities arise, a lung transplant may be viewed as an option.
There are four different categories of treatment: lifestyle changes, surgical procedures, non-surgical procedures, and medications. Lifestyle changes include having a healthy diet; increasing physical activity; eliminating cigarettes, alcoholic beverages, and illicit drugs; and getting enough rest and sleep; losing excess weight. These lifestyle changes are to lower the patient’s blood pressure, cholesterol, and reducing any other future medical conditions. There are also surgical options to help cure, prevent, or control cardiomyopathy. Surgical method include a septal myectomy, surgically implanted devices, and a heart transplant. A septal myectomy is used to specifically treat hypertrophy cardiomyopathy which is where the heart muscle cells enlarge and cause the walls of the ventricles to thicken. The thickening of the walls may not affect the size of the ventricles but instead may affect the blood flow out of the ventricle. Usually along with the ventricles swelling, the septum in between the ventricles can become enlarged and block the blood flow causing a heart attack. When medication is not working well to treat hypertrophic cardiomyopathy, a surgeon will open the chest cavity and remove part of the septum that is blocking blood flow. Surgically implanted devices include a pacemaker, a cardiac resynchronization therapy device, a left ventricular assist device, and an implantable
Oxygen, inhaled bronchodilators, inhaled steroids, combination inhalers, oral steroids, phosphodiesterase-4 inhibitors and theophylline are effective medications for COPD (Mayo Clinic, 2016). “Patients with COPD have persistent high levels of CO2, their respiratory centers no longer respond to increased levels of CO2 by stimulating breathing. Therefore, COPD patients with more severe hypoxemia are at higher risk of CO2 retention from uncontrolled CO2 administration” (Van Houten, p. 13). For nurses, “It is important to administer the lowest amount of O2 necessary to patients” (Van Houten, p. 13). Some COPD medicines are used with inhaler and nebulizer devices. It is important to teach patients how to use these devices correctly. (Potter & Perry,
Dystrophin is part of a complex structure involving several other protein components. The "dystrophin-glycoprotein complex" helps to anchor the structural skeleton (cytoskeleton) within the muscle cells, through the outer membrane (sarcolemma) of each cell, to the tissue framework (extracellular matrix) that surrounds each cell (Straube and Campbell, 1997). Due to defects in this assembly, contraction of the muscle leads to disruption of the outer membrane of the muscle cells and eventual weakening and wasting of the muscle
It is characterized by normal early growth and development followed by a slowing of development, the loss of purposeful use of the hands, slowed brain and head growth, problems with walking, seizures, and intellectual disability.
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.
...a are bronchodilators like anticholinergic, beta agonists, theophylline and oxygen, which are for the advance cases of the disease. In addition, the best treatment for people whom have emphysema is for them to stop smoking.
Each form of muscular dystrophy is caused by a defect in a specific gene. In 1986, scientists discovered exactly which piece of genetic material is missing in Duchenne muscular dystrophy patients. They named it for Guillaume Benjamin Amand Duchenne(1806-1875), a French neurologist who was one of the first doctors to discover and study the disease. When functioning properly, the Duchenne gene carries instructions for assembling a muscle protein known as dystrophin. At about 2,500,000 nucleotides, dystrophin is one of the largest genes known. Dystrophin is largely responsible for reinforcing and stabilizing the sarcolemma. Dystrophin associates with the muscle fiber sarcolemma by interacting with the actin microfilaments and with a transmembrane protein complex linked to the extracellular matrix. This latter dystrophin-associated glycoprotein complex (DAGC) includes the extracellular proteoglycan, [Alpha]-dystroglycan, which binds to merosin in muscle fiber basal laminae, as well as a number of other integral and cytoplasmic membrane proteins: [Alpha]-dystroglycan; [Alpha]-, [Beta]- and [Gamma]- sarcoglycans (see Figure 1). The DAGC provides a physical link and, potentially, a signaling pathway between the extracellular matrix and the internal scaffolding of the muscle cells. Mutations in the Duchenne gene result in dystrophin deficiency, which constitutes the pathogenic basis of DMD. Dystrophin is either absent or severely deficient in a person with DMD. When dystrophin is lost through gene mutation, the muscle falls apart under the tension generated when it contracts. Without dystrophin, the muscle fibers also lose their ability to regenerate and are eventually replaced with adipose tissue and fibrous connective tissue (see Fig. 2 and Fig. 3).
ALD has many different symptoms; some of the symptoms can be triggered as early as two years or as late as twelve but, the normal symptoms start between the ages of 4 to 10 and can include change in muscle tone, crossed eyes, decreased understanding of verbal communication, detoration of hand writing, difficulty at school, difficulty understanding spoken material, hearing loss, hyperactivity, progressive nervous system detoration, coma, decreased fine motor skills, seizures, and visual impairment or blindness(Lohr, DR. John T). If you recognize or detect any of these symptoms in your child you should immediately take them...
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...
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)
Scoliosis is a progressive disease. In its early stages a mild rotation and rib deformity is detected. As it progresses more vertebrae rotate, causing the ribs to crowd together on one side of the chest and to spread apart on the opposite side. The disease is usually first identified in persons 10 to 17 years old. Most cases occur in girls and become apparent during the rapid growth phase of puberty. Conditions also include shoulder unleveling, waistline discrepancies, acute headaches, shortness of breath, rib hump, chronic fatigue, and mood swings.