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| Muscular Dystrophy A Disease That Destroys The | Expanding Access to Genetic Testing. Genetic testing plays an important role in diagnosing, treating, and managing neuromuscular disease. “Genetic testing can shorten the time to diagnosis and prevent misdiagnosis of muscular dystrophies,” says Robert Nussbaum, MD, chief medical officer of Invitae, a leader in advanced medical genetics. Nov 28, · Vyvenne Moore Muscular Dystrophy Muscular Dystrophy is a disease that destroys the muscles. As the disease progresses the muscles start to weaken and deteriorate. Over time, the person will start losing their ability to function, move, and in many cases can lead to the death. There are over 30 types of Muscular Dystrophy. 4 days ago · Duchenne muscular dystrophy (DMD), a rare genetic disease that affects approximately 1 in 3, boys, is of increasing interest due to the availability of new therapies; yet, state programs may not adopt DMD screening for several years. |
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The Duchenne muscular dystrophy DMD it is a neuromuscular disease, characterized by the presence click significant muscle weakness, and a generalized and progressive development World Health Organization, The vast majority of the disease affects men in the early stages of life World Health Organization, There are different types of muscular dystrophy. Symptoms typically begin during childhood.
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Neuromuscular effects offer a chronic prognosis. In most cases, people see more Duchenne muscular dystrophy die in young adulthood, due to the development of secondary pathologies such as heart failure or cardiomyopathies World Health Organization, Duchenne muscular dystrophy is a disease that affects the individual through progressive muscle weakness and degeneration Muscular Dystrophy Association, Due to a genetic mutation, the absence of a specific protein in people with Duchenne muscular dystrophy will cause the loss of muscle functionality. Generally, the symptoms usually appear in the lower extremities, spreading to the rest of the areas. The World Health Organization indicates that the incidence of Duchenne muscular dystrophy is estimated at Muecular 1 case per 3, inhabitants.
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In the case of the US, it is not Musfular with certainty how many people in all age ranges suffer from this disease. Some research has estimated that one in 5, adult males between the ages of 5 and 24 have a diagnosis of Duchenne or Becker muscular dystrophy Centers for Disease Control and Prevention, The most characteristic of the disorders that belong to the group of muscular dystrophies is the muscular weakness; However, depending on the type, specific symptoms may appear that will vary depending on the age of onset and the muscle groups affected Mayo Clinic, Normally, the development of Duchnne muscular dystrophy is quite predictable.
Parents may observe some quite significant signs, such as difficulty or inability to learn to walk or abnormal https://amazonia.fiocruz.br/scdp/blog/purdue-owl-research-paper/racism-and-the-american-indian.php in calf muscles pseudohypertrophy Duchenne Parent Project, Some of the most characteristic symptoms and click of Duchenne muscular dystrophy that appear early in a child's life are Mayo Clinic, :. Similarly, the Duchenne Parent Project associationhighlights the most common symptoms and clinical Mkscular.
As the disease progresses, at school age, it is quite likely that children use only the tips of their Diseasee to walk. We will be able to observe a rolling and unsafe gait that can cause numerous falls. They usually use some strategies to maintain their balance such as pushing their shoulders back or holding on Muscular Dystrophy A Disease That Destroys The their own body Duchenne Parent Project, Around 9 years of age, most people with this disease are unable to walk, due to this they begin to develop numerous musculoskeletal deformities -scoliosis, contractures, etc.
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In the adolescent stage, they will present significant difficulties in efficiently executing activities related to the use of the upper extremities, legs or trunk. At this stage they will require support and help of a mechanical nature Duchenne Parent Project, Due to all this, the survival of the patient is seriously compromised, causing death in most cases.
Various genes have been identified that are involved in the production of proteins that are responsible for protecting muscle fibers against possible damage and injury Mayo Clinic, Specifically, each type of muscular dystrophy occurs as a consequence of a particular genetic mutation.
Some of these mutations are inherited; however, in most cases they occur spontaneously during pregnancy Mayo Clinic, In the case of Duchenne muscular dystrophy, the researchers identified a specific gene located on the X chromosome that could present the mutation responsible for this pathology Muscular Dystrophy Muscular Dystrophy A Disease That Destroys The, In this way, inthe protein associated with this gene was identified, dystrophin. Thus, the lack or absence of this protein implies that the muscles are fragile and easily damaged Muscular Dystrophy Association, In addition, a recessive inheritance pattern linked to the X chromosome has been identified, with the carrier being the mother Muscular Dystrophy Association, Due to this fact, this type of disease is more common in men than in women.
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Men have an XY chromosome composition, while women are XX. Therefore, if an X chromosome has a mutation in the DMD gene, you will suffer from Duchenne muscular dystrophy due to the absence of dystrophin production National Human Genome Research Institute, However, in the case of women who have two X chromosomes and therefore two copies of the DMD gene, if one of these is altered, the other will be able to continue producing dystrophin and therefore maintain muscle neuroprotection National Human Genome Research Institute, In this type of pathologies, different interventions can be carried out to determine its diagnosis National Human Genome Research Institute, The clinical diagnosis can already be made when a child begins to develop progressive muscle weakness.
Already at 5 years of age there are obvious symptoms. If an early intervention is not carried out, children will present functional dependence before the age of 13 National Human Genome Research Institute, Apart from Muscular Dystrophy A Disease That Destroys The and clinical examination, some of the following techniques can be used to identify the presence of Duchenne muscular dystrophy Mayo Clinic, :.]
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