Muscular Dystrophy: A Case Study

According to the MediLexicon Medical Dictionary, muscular dystrophy is defined as a general term for a number of hereditary, progressive degenerative disorders affecting skeletal muscles, and often other organ systems (Staff). Basically what that means is that muscular dystrophy is a genetic disorder that is passed down that affects the skeletal muscles and other organs by slowly breaking them down. Since it is genetic, it is not contagious and you cannot catch it from someone who has it. MD weakens muscles over time, so children, teens, and adults who have the disease can gradually lose the ability to do the things most people take for granted, like walking or sitting up. Someone with MD might start having muscle problems as a baby or

either be “cured” or slowed down and how doctors can and cannot tell which muscular dystrophy

Muscular dystrophy is a degenerating disease, in which the skeletal muscles degenerate, lose their strength, and cause increasing disability and deformity. Muscles attached to the bones through tendons are responsible for movement in the human body, however, in muscular dystrophy the muscles become progressively weak. As the muscle fibers

1. The meaning of Duchenne muscular dystrophy is a severe form of muscular dystrophy caused by a genetic defect that can be characterized by a disturbed growth of cardiac and skeletal muscles. It usually affects boys. In 1861, a French neurologist, Guillaume B. Duchenne, was the first person to give a detailed description of this syndrome.

Muscular dystrophy can negtively impact muscles in the body by disrupting strength, structure, and signaling. MD can also have adverse effects on the nervous, repiratory, and immune systems by leading to impairments such as learning disabilities, heart complications, and

According to M.D. Sarnat Harvey, Dystrophy means abnormal growth, and muscular dystrophy is abnormal growth of muscles causing weakness and death of muscle. Over time, the patients lose the freedom of walking, running, playing, talking, even breathing abilities. There is no cure for muscular dystrophy.

Duchenne Muscular Dystrophy or DMD for short is a genetic disease that affects the skeletal muscles causing muscle degeneration and muscle wasting. Duchenne Muscular Dystrophy is an X-linked recessive chromosomal disease, which is caused by mutations in the DMD Gene (Regenerative Medicine). This Disease affects 1 in 3600 boys (Regenerative Medicine). A male born with this disease experiences respiratory dysfunction, trouble ambulation, cognitive impairment, some even experience premature death. Unfortunately, there is no cure for DMD, but there are research studies in the works for different therapies to help reverse this gene mutation and to elevate symptoms associate with this disease.

I remember replying to a few of your posts last semester. Did you know Duchenne Muscular Dystrophy affects more boys than girls? Expect them to be in a wheel-chair at around during their early teens. It is also know that it takes longer for them to start walking, which means they barely walk during their lives. They even have a hard time raising their arms and fall often if they were walking. They might struggle to climb up the stairs or it may not even be worth the trouble. The worst case scenario is Cardiopathy because DMD causes damage to the heart. To further elaborate, the lacking of dystrophin results to weakening of the muscle layer in the heart which is called myocardium. This situation could indeed threaten their life. DMD has also affected the way they learn verbally and they even have a hard time focusing. In addition, they will struggle to recall memories and could interact emotionally different than most people (MDA For Strength, Independence & Life, 2016). I’d choose adoption if I could have avoided this devastating syndrome. I would also suggest prenatal diagnosis.

Duchenne Muscular Dystrophy (DMD) is a lethal genetic X-linked disease results from the mutation in the reading frame of the dystrophin protein, and it affects mostly boys in their muscle and cardiopulmonary function. Although there are no effective treatments to cure DMD patients right now, scientists consistently explore more methods to come up with the practical treatments. One of the most popular and valid approaches is a gene-editing therapeutic method – CRISPR/Cas9 Genome Editing. It adapts from the natural systems in bacteria, and it can generate targeted gene modifications to target specific DNA sequence. Then it introduces shifts within exons to restore the reading frame, so it can express a partial functional dystrophin protein.

Muscular dystrophy is a hereditary condition marked by progressive weakening and wasting of the muscles. The main sign of muscular dystrophy is progressive muscle weakness. Specific symptoms start at different ages and in different muscle groups, depending on the type of muscular dystrophy. This disease can appear in infancy up to middle age or older. There are 9 major types of muscular dystrophy. Myotonic, Duchenne, Becker, limb-girdle, facioscapulohumeral, congenital, oculopharyngeal, distal, and emery-dreifuss. The diagnostic of muscular dystrophy can be found through a physical exam, family medical history, and tests. Furthermore, those include muscle biopsies, DNA testing, nerve conduction tests, and blood enzyme tests. Muscular dystrophy

Currently there is no cure for DMD, but certain exercise therapy and muscle building medicines to slow down or reverse the progression of muscular dystrophy. Other treatments are being tested to see if they could control or suppress the symptoms of DMD. These treatments include; albuterol, amino acids, coenzyme Q10, carnitine, fish oil, creatine, green tea extracts and vitamin E (Haldeman-Englert, 2015). Despite these few temporary treatments it is said that gene therapy could be used for human trials are very close to occurring.

When you’re out living your life as a ‘normal kid’ it can be fun, easy, and even great. I was able to live that life until I got my diagnosis of Charcot Marie Tooth type 1E (CMT1E) when I was eight.

Patients cannot always be saved, medical personnel can help patients understand their outcomes. In the listed scenario a 17 year old has Duchene Muscular Dystrophy and multi organ failure. Although the patient is alert, his health continues to decline. Medical personnel feel from a medical perspective they cannot save the patient. The patient is unaware of his declining condition, because his parents asked the medical personnel to remain optimistic and encourage the patient to work towards getting better. The nurse should help the parents understand that they are ethically obligated to be honest and forthcoming with patients. It is the patients’s right to know his medical diagnosis. When everyone is aware of the current medical state of the

Muscle myopathy is a disease in which the skeletal muscle in human body weakens and difficult to move (Carnell et al., 2012). This disease can also affect the smooth muscle in respiratory tract that leads to shortage in oxygen and carbon dioxide accumulation in blood. This disease is caused by the mutation of ATP-binding activity of actin filaments. Therefore, muscle contraction cannot occur, being that ATP is essential for the muscle to contract. There is no effective cure for this disease (NINDS, 2015). However, some treatments can be done to overcome the weakness of the muscle. Treatment for this disease is based on the muscle condition of the patient. Some physical therapy and using brace as a support of the muscle can help the patient who

It’s 2025, and a young couple sits anxiously in the waiting room of the geneticist’s office to learn the results of genomic tests on their growing embryos in petri dishes. They’ve been married for about five years, and, to their mothers’ reliefs, they’ve finally decided to have children. However, muscular dystrophy has been observed in Genevieve’s family and Alzheimer’s disease and Hodgkin’s Lymphoma in Tom’s. The doctor tested the embryos for the presence of genetic predispositions to these illnesses. He also tested for their genders, height, intelligence, and muscle tone. The couple will be able to select which embryos to keep for gestation and which to discard. This scenario inspires and invigorates some while mortifying others. Many see