Duchenne muscular dystrophy
Something that always intrigued me from my brother since Chiquito was the fact of observing with the passing of time as their limbPisada or a little push caused their fall, as other children could play, run, jump while he could not do it normally, observe how his muscles were disappearing, became thinner and his legs no longer had the same strength as before for whatthat forced him to have to use a wheelchair. My mother had mentioned me some time about my brother’s disease, however, I did not understand at all but now, that I am older I began to investigate the subject and it is known as Duchenne’s muscular dystrophy which will be exposed andexplained throughout the essay through relevant and interesting ideas, with the aim of making this weird and little known condition the reader and informing it in case a family member also possesses it too.
Muscle dystrophy is a set of hereditary conditions that cause gradual decay and loss of muscle mass, in this intervene abnormal genes that prevent the necessary proteins from entering to form the muscles healthy. (Clinic, 2018)
There are different types of muscle dystrophy among which we have:
- Becker muscle dystrophy
- Duchenne muscular dystrophy
- Emery-Dreifuss muscular dystrophy
- Facioescapulohumeral muscular dystrophy
- Muscular dystrophy of the escapulohumeral or pelvic waist
- Oculopharyngeal muscular dystrophy
- Myotonic muscular dystrophy
In general, the symptoms of these types of muscle dystrophies begin from childhood, especially in the male gender, while in others they appear in the adult stage, the main indication of this condition is a weakness in a muscle zone depending on thetype of dystrophy that possesses the affected. On the other hand, this disease has no cure but, the treatments and medications provided by specialists in this branch of medicine help control the symptoms and minimize the progress of the same. However, in this essay, Duchenne’s muscular dystrophy will be discussed specifically.
Duchenne’s muscular dystrophy is a hereditary neuromuscular disease that was discovered by the French neurologist Guillaume Benjamin Amand Duchenne in the year of 1860 in France-Boulogne-Sur-Mer. It is a myopathy of genetic origin that is linked to the X chromosome, which can give the beginning of various diseases that are transmitted from parents to children, either by an abnormal number of the chromosome or by genetic modifications, in this case it is foundpresent an abnormal gene that modifies the function of the dystrophin protein which is responsible for connecting the actin filaments with the extracellular matrix and lacking this or that an anomaly is found in it affects the relationship between the matrix and the layerFine of the cell which seriously causes that muscle fiber cells disappear and are replaced with adipose tissue, that is, with fatty tissue. In general, this abnormal gene only affects men while women become carriers, which is why the children of women carrying the disease, that is, women with poor chromosome but who do not have symptoms have 50% ofprobability of being affected and the daughters have 50% of being carriers since in unusual cases a woman can be affected. Therefore, as it is a hereditary pathology, it is likely to be transmitted to a future family member.
In order to analyze and diagnose if a person suffers from this disease doctors usually based on the child’s family medical history, physical symptoms and exams, however, tests are performed, which are helpful to verify if the diagnosis proposed by the doctorIt is true, one of these tests is the blood test that allows quantifying the levels of creatin concentration of CINASA which is a protein that is usually found in muscle cells but if there is an anomaly or a problem such as Duchenne dystrophy will causeDamage to cells causing a large amount of this creatin cinase in the blood, genetic tests identify the modification in the dystrophin gene, this helps doctors to make decisions on how to deal with the problem, electromyography reflects theTypical myopathic pattern, it is a spontaneous activity that consists of giving fibrilations and waves. Similarly, doctors perform a biopsy where a small fragment of the muscle is extracted, this test will reveal whether the muscle dystrophy is of a Duchenne or Becker type, however, if the genetic tests, the concentration of the creatin CINASA (CK) andPhysical examination point to an evaluation of muscular dystrophy of many, it is likely that it is not necessary to perform muscle biopsy.
The symptoms appear from childhood and the following may occur:
- Fatigue
- Falls that become frequent over time
- Intellectual disability that does not worsen over time
- Difficulty in motor skills and physical activities such as running, jumping and dancing.
- Walk on feet fingers
- Large calf muscles
- Respiratory problems that occur due to the weakness of respiratory muscles
- Gradual worsening of muscle weakness that begins in the legs and pelvis but also occurs with less severity in the arms, neck and other areas of the body.
Presenting these signs The affected could begin to lose the ability to walk in the adolescence stage 12 years anda wheelchair. There is no cure for this, however, treatments that aim to control symptoms to optimize the quality of life through physical therapies that are helpful to maintain muscle strength, the use of steroids that can decreaseThe loss of muscle strength but leads to excessive weight gain, psychomotorism a psychic activity of the human mind and the capacity of movement or motor function of the body, the consumption of amino acids, all these treatments are oriented to improve functionality and qualityof patient’s life, evaluating what are the skills it possesses and which ones can be modified.
Bibliography
- ASEM Aragon. (2010). Obtained from Asem Aragon: http: // www.asemaragon.com/las-enm/chips-techniques/56/170-distrafia-muscular-de-duchenne
- Clinic, m. (June 13, 2018). MAY CLINIC OR. Obtained from https: // www.Mayoclinic.Org/ES-ES/ESCOSES-CONTAns/Muscular-Dystrophy/Symptoms-Causes/SYC-20375388
- Eunice Kennedy Shriver National Institute of Child Health and Human Development. (s.F.). Obtained from https: // www1.nichd.nih.GOV/Spanish/Health/Themes/Muscularys/Pages/Default.ASPX
- Medlineplus. (July 31, 2019). Medlineplus. Obtained from https: // medlineplus.GOV/SPANISH/ENCY/ARTICLE/001190.htm
- Mena t. Scavina, d. (March 2018). Kidshealth for Nemours. Obtained from https: // kidshealth.org/es/Parents/Duchenne-Md-Esp.HTML
- Quinlivan, d. R. (September 2009). Orphanet. Obtained from Orphanet: https: // www.ORPHA.Net/Constor/www/cgi-bin/oc_exp.PHP?lng = es & expert = 98896
- Sanitas. (2019). Sanitas part of Bupa . Obtained from https: // www.Sanitas.es/sanitas/insurance/es/individuals/library-of-salud/prevention-salud/chromosome-x.HTML
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