Muscular dystrophy it includes a variety of muscular disorders that occur at birth and in most cases genetically inherited. They cause continuous weakness of the body, disability and finally death which usually fall on during adolescence as from secondary infection or else intractable congestive heart malfunctioning (Engel, 2016). From the clinical perspective, there are at least six forms of the disorder. Although they might have clear-cut distinctions between the various forms of the disease, the six will share the same pathological findings. Duchenne dystrophy is one of the most form of disorder and most severe hence it forms an area of focus in my essay. This disease can affect anyone, that is to say, it has no regard to race, age or else the size of a person. Many people around the globe have been diagnosed with the ailment to imply that it can attack anyone. It affects one musculoskeletal as well as hamper locomotion.
Healthcare, biology, and medicine have not only been a primary concern of the society but have also become the central focus of the mainstream media. It is very rare for one day to pass without somebody writing on these very topics on the cover of the newspaper, for instance, The New York Times (Engel, 2016). In the past, this information was being reserved for paramedics and medical personnel something which has changed as this information is readily available to everyone in the society. For example, CNN’s Your Health has brought the science and the debate around the society. Some of the most discussed genetic diseases are muscular dystrophy.
This essay shall, therefore, focus on the one of the most debated and talked about genetic disorder. After looking at the core facts about the disease, I shall discuss the prevention, screening as well as curing of the disorder. https://theessaypro.com/definition-essay-samples/
This disease was first named around mid-19th century by a French neurologist by the name Guillaume.He took a study on thirteen young boys who had the most severe cases of this muscular disease which now is known as the Duchenne Muscular Dystrophy (Mendell et al, 2013). It did not take long after this discovery had been made, it was found that the disease had distinct types as well as levels. This condition is typically inherited through not only inherited it can also be caused by a variety of other factors. Some cases of the muscular disease which have been found in the prenatal stages without any genetic history of the muscular disease. Statistics reveal that 33% of the populace have been found to have one form of the muscular dystrophy. This disease is fatal, and diagnosis is supposed to be undertaken in case one has been found to have symptoms of the disease.
The test which is mostly done to establish on whether somebody is ailing from this condition is known as muscle biopsy (Engel, 2016). For the doctor to ascertain whether someone is suffering from this disease he or she relies on the physical and medical history of the patient to know the exact type of the muscular dystrophy the person may have. Relying on the symptoms is a sure way of establishing the actual test to be undertaken to do the right diagnosis.
One of the most common types of the symptoms of this disease is a loss of the muscle mass. The dropping of the eyes, as well as the poor balance, are also common symptoms that most of the people usually have. When someone has the extreme type of this disease has symptoms like the inability to walk, respiratory difficulties, and atrophy, scoliosis as well as calf deformities. Other limited functions associated with people who have this condition experience frequent falls as well as limited range of the movement.
Forms of the muscular dystrophy
These disease has been known to cause progressive weakness as well as degeneration of various skeletal muscles. Looking for the various types of muscular dystrophy are the Duchenne Facioscapulohumeral, Becker, myotonic dystrophy as well as limb-girdle. There is also early evidence of the regeneration as well as degeneration of some muscle fibers. The fibers which regenerate and become larger than normal. The muscles are replaced by fibrous scar tissue as well as fat.
Duchenne muscular dystrophy is one of the most common types of childhood disease. It occurs in one in 3,300 male births. It is sex-linked genetically disorder meaning that it is affecting the male exclusively (Mendell et al, 2013). This disease is caused by the defective gene found on 23rd, or the X, the chromosome that results in the failure of the body to produce muscle protein called dystrophin. Most of the women who carry this gene defect are unaffected; they usually have 50% probability of the passing the defect to their boy children. Early symptoms usually occur at the age of two and six years, and they include, waddling gait, difficulty in getting up when the child is sitting or lying, frequent falling, inability to raise the knees, enlargement of the calf muscle as well as the disappearance of the normal knee or the ankle jerk. These symptoms become very distinct with the child growth that is like the child advances with age. The kid starts being unable to climb a raised area like the stairs and as the child advances in age starts being unable to walk.
Muscle wasting usually progresses upward from legs where the arms finally become eventually affected (Mendell et al, 2013). As the condition worsens, muscle wasting has the effect of affecting the muscles of the diaphragm where breathing becomes shallow as the time progresses. As the person grow older, life-threatening pulmonary infections or what is referred to as respiratory failure might occur at the age of 20.Genetic testing is usually necessary as it can test the presence of the defect gene in female carriers as well as the affected male fetuses.
The other type of muscular dystrophy is the Becker Muscular dystrophy that has symptoms similar to the Duchene, but the difference between the later and the former is that the former starts in later childhood or the adolescence and it advances slowly. It is also a sex-linked disease that is associated with a defective gene found on the X chromosome; though in this case some functional dystrophin is produced. Patients with this form of ailment may be healthy up to adult life with various forms of limitations.
The third type of this disease is known as the limb-girdle dystrophy which affects both sexes. Initial symptoms are seen in the region around the pelvic and start in the late childhood (Mendell et al, 2013). Muscular weakness then advances to the arms as well as the legs. Symptoms of this disease include difficulty in climbing, waddling gait as well as frequent falling.
The other type of muscular dystrophy is known as the facioscapulohumeral dystrophy and is related to the face, upper arm, as well as the, should blade which starts in adolescence and it affects both sexes. The initial symptom of this disorder is the difficulty in raising arms. Other symptoms which might appear in later stages include weakness of the legs as well as the pelvic girdle, difficulty in the closing of the eyes and forward sloping of the shoulders. The severity of this form of disorder range in severity where the individuals with this kind of disease may normally be affected or else totally disabled.
The last type of the muscular disorder I will discuss in my essays is the myotonic muscular dystrophy which is one of the most common forms of this disease; which usually has the history of affecting the adult .one of the most common types of the symptoms associated with this disease is the stiffening of the muscle after the use (Mendell et al, 2013). This disease may also affect the Central nervous system that is the heart, eyes, the endocrine glands as well as the gastrointestinal tract. Due to the probability of having cardiac complications, individuals with this kind of complication may need a pacemaker.Myotonic muscular dystrophy type 1 as well as myotonic dystrophy type 2, are as a result of gene mutation, different chromosomes leading to the defective RNA; the molecule that results in protein after the DNA has translated into proteins. This disease can be detected through carrying out genetic testing, one of the surest way of noting the presence of this defective mutant gene.
Prevention and treatment
Doctors suggest that physical therapy, splints, braces, exercises as well as corrective surgery may to a greater extent help the patient reduce some of the major symptoms associated with this disease (Uezumi & Fukada, 2016). Corticosteroid medications have the effect of slowing down the progression of muscular dystrophy.
There is no cure for this disease though many notable achievements have occurred in this field for this disease. There has been so many improvements in this area of physical therapy as well as occupational therapy that has contributed in making people more productive in spite of many life difficulties associated with this disease. Over the year’s patient have been more productive as a result of advancement in the orthopedic instruments, for instance, the walkers, mobile devices as well as wheelchairs. Bodybuilding can make the conditions worse with fewer muscle contractions associated with low impact activities.
Symptoms, as well as effects of the muscular dystrophy, are distinct for every patient who is having such kind of ailment (Mendell et al, 2013). Some patients become continually weak with multiple symptoms making their lifespan shorter while others have been lucky to live their full life carrying the symptoms of these disease with less advancement. A great number of patients have benefited from a diet with lean meats, seafood as well as food with high levels of antioxidants.
Summary of the findings and conclusion
Human services, science, and pharmaceutical have not exclusively been an essential worry of the general public yet have additionally turned into the focal concentration of the predominant press (Uezumi & Fukada, 2016). It is exceptionally uncommon for one day to go without some individual written work on these extremely themes on the front of the daily paper, for example, The New York Times. In the past, this data was being held for paramedics and medicinal staff something which has changed as this information is promptly accessible to everybody in the general public. For instance, CNN's Your Health has brought the science and the reasonable discussion around the public as a whole. Some of the most faced off regarding hereditary illness is active dystrophy
Muscular dystrophy it incorporates an assortment of solid issue that happens during childbirth and by and large hereditarily acquired. They cause consistent shortcoming of the body, inability lastly demise which for the most part fall on amid puberty as from auxiliary contamination or else immovable congestive heart breaking down. From the clinical point of view, there are no less than six types of the turmoil. In spite of the fact that they may have obvious refinements between the different types of the confusion, the six will have the same obsessive discoveries.
This sickness was first named around mid-nineteenth century by a French neurologist by the name Guillaume (Uezumi & Fukada, 2016).He took a review on thirteen young men who had the most severe instances of this solid malady which now is known as the Duchenne Muscular Dystrophy. It did not take long after this disclosure had been made, it was found that the illness had particular sorts and levels. This condition is regularly acquired however not just acquired it can likewise be brought about by an assortment of different elements. A few instances of the active infection which have been found on the pre-birth stages with no genetic history of the substantial illness. Measurements uncover that 33% of the masses have been found to have one type of the muscular dystrophy. This infection is deadly, and analysis should be embraced if one has been found to have side effects of the ailment.
A standout amongst the most widely recognized sorts of the side effects of this infection is the loss of the weight (Uezumi & Fukada, 2016). Dropping off the eyes and additionally, poor people adjust are likewise regular side effects that a significant portion of the general population normally has. When somebody has the unusual kind of this infection has side effects like the powerlessness to walk, respiratory troubles, and decay, scoliosis and also calf deformations. Other constrained capacities related to individuals who have this condition encounter visit falls and also restricted the scope of the development.
These malady has been referred to bring about dynamic shortcoming and also degeneration of different skeletal muscles. Looking at the different sorts of muscular dystrophy are the Duchenne Facioscapulohumeral, Becker, myotonic dystrophy and appendage support (Emery et al, 2015). There is early proof of the recovery and additionally degeneration of some muscle filaments. The filaments which recover and end up plainly bigger than typical. The muscles are supplanted with sinewy scar tissue and also fat.
Specialists recommend that non-intrusive treatment, supports, props, practices and additionally corrective surgery may to a more prominent degree help the patient lessen a portion of the important manifestations related to this ailment. Corticosteroid pharmaceuticals have the impact of backing off the movement of solid dystrophy.
There is no cure for this infection however numerous critical accomplishments have happened in this field for this illness (Emery et al, 2015). There has been such a large number of enhancements in this area of exercise based recuperation and also a word related treatment that has truly contributed to making individuals more profitable notwithstanding numerous life challenges connect with this illness. Throughout the year's patient have been more beneficial subsequently of progression in the orthopedic instruments, for example, the walkers, cell phones and additionally wheel seats. Bodybuilding can exacerbate the conditions with fewer muscle constrictions related with moderate effect exercises.
Emery, A. E., Muntoni, F., & Quinlivan, R. C. (2015). Duchenne muscular dystrophy. OUP Oxford.
Engel, A. G. (2016). Acid maltase deficiency in adults: studies in four cases of a syndrome which may mimic muscular dystrophy or other myopathies. Brain, 93(3), 599-616.
Mendell, J. R., Rodino‐Klapac, L. R., Sahenk, Z., Roush, K., Bird, L., Lowes, L. P., ... & Malik, V. (2013). Eteplirsen for the treatment of Duchenne muscular dystrophy. Annals of neurology, 74(5), 637-647.
Uezumi, A., & Fukada, S. I. (2016). Toward Regenerative Medicine for Muscular Dystrophies. In Translational Research in Muscular Dystrophy (pp. 103-122). Springer Japan.