Muscular Dystrophy Case Study

2. The typical microscopic changes noted in the muscle tissue of someone with Duchenne’s muscular dystrophy is degenerating skeletal muscle cells. Surrounding these muscle cells is a large amount of endomysial connective tissue that is proliferating. A large number of macrophages can be seen whose responsibility is to eliminate cellular debris. Some muscle cells (fibers)

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

Duchenne muscular dystrophy was first discovered by Guillaume Benjamin Amand Duchenne in the 1860’s, but due to lack of medical knowledge little was known until the 1980’s. It was in 1986 that researchers that were supported by the MDA, muscular dystrophy association, identified the particular X-chromosome that leads to DMD, Duchenne muscular dystrophy. Dystrophin is the protein that is associated with the gene and was named in 1987.The DMD gene is the second largest gene to date, and it produces dystrophin.(Genome, 2013) Lack of the protein Dystrophin in the muscle cells causes them to weaken and become fragile. (MDA, 2015). DMD is an inherited disorder, but there are rare cases where it can spontaneously appear in a child with no previous family history due to a random mutation in moms X-chromosome. DMD is a gender specific disease that only appears in males.

Listener Relevance: Duchenne Muscular Dystrophy (DMD), is more common than people think and chances are sooner or later you will know of or see somebody affected by this disease.

Muscular dystrophy is an inherited disease that was discovered in 1861, by Guillaume B.A. Duchenne. Muscular dystrophy is a group of heredity disorders characterized by rapidly-worsening muscle weakness. The trait for muscular dystrophy may be transmitted as an autosomal dominant which means a disorder that has two copies of an abnormal gene that must be present in order for the disease or trait to develop. In this case, if some original carrier of the disease had children, the children would have a fifty-fifty chance of inheriting the disease. It is also carried as an autosomal recessive trait, in which case the offspring of the original carrier would have a very small chance of

We have many drugs, therapy techniques, and procedures to help slow the progression or help with the pain associated with DMD. There are many varying degrees of severity with DMD and because of this treatment plans vary greatly with the patient's specific needs. Many are given medical interventions to help with mobility. Many use wheelchairs or braces to help them maintain freedom and independance. Drugs like Prednisone, Deflazacort,Cyclosporine and Oxandrolone are used to prolong the ability to walk without aids as much as 5 years. Prednisone is a Corticosteroid that is the most common steriod used to help symptoms of DMD. There is controversy when using this steriod because of the numerous side effects like weight gain, fragile bones, high blood pressure, and behavioral changes. Deflazacort is a synthetic form of Prednisone that has been found to have less side effects. This drug is used in Europe. Cyclosporine is a medication that is very controversial because it's possible it causes myopathy. Oxandrolone is still being researched but it is believed to have similar results as Prednisone with fewer side effects.(National Human Genome Research Institute, 2013) People with DMD may need other medications for secondary issues like asthma, or heart complications. Surgeries are also an option to help correct spinal curvature or fix issues with the heart. Therapies are the most common among all varying degrees of Duchenne Muscular Dystrophy. Range of Motion exercises will help keep flexibility in the affected joints. These exercises will also help to prevent muscle shortening. Low impact exercises like swimming are highly to maintain mobility., flexibility in joints, and strength.(Mayo Clinic,

Duchenne muscular dystrophy (DMD) is defined as a chronic form of dystrophy that is caused by a mutated gene. This essay critically discusses Duchenne muscular dystrophy as a whole, including all the symptoms, causes as well as treatment.

Ben has Duchenne Muscular Dystrophy (DMD). DMD is a degenerative disease of the muscles. When someone has this disease their muscles do not produce enough dystrophin to stay together. This causes the muscles to deteriorate over time. With proper care, the rate of muscle degradation can be slowed down. Duchenne muscular dystrophy is a genetic disorder characterized by progressive muscle degeneration and weakness. Muscle weakness can start as early as age three. It first affects the hips, pelvic area, thighs, and shoulders. This disease is still fatal and will be until further studies and research are done to find ways to cure this disease.

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

Duchenne Muscular Dystrophy (also referred to as DMD) is a type of muscular dystrophy that weakens the muscles that we need to support our body, body weight, to stand, and to move around. It also can cause you to have scoliosis. Some of the main causes for DMD are genetic disorders, mutations, and DMD has to be passed down throughout everyone in that family for generations. The symptoms you can have if you have DMD are weak muscles, lack of strength, and difficulty walking. DMD is a negative mutation because it affects your muscles horribly bad that you can get a disability of walking and even moving. You need to tell your doctor immediately if you experience any symptoms. If you don't tell your doctor, you may find yourself in a very difficult situation where you can't get up or can't get something you need. When you do talk to your doctor, you will have an advantage of getting the help you need.

Each strain of muscular dystrophy is created by a genetic mutation distinct to that type. Duchenne’s has an absence of dystrophin, a protein that aids in keeping muscle cells together. Most of the mutations in the genes are inherited; some happen randomly in the mother’s egg (oocyte) or the developing embryo. Also, the mutations are able to be passed to the next generations.

Muscular Dystrophy is a genetic disease in which muscle fibers are usually susceptible to damage and cause muscle wasting and weakness. There are bundles of fibers that make up muscles; proteins are involved in these muscles and help to keep the muscle working properly. If

Even though the annual telethon is over, muscular dystrophy—all nine forms—still exists. MD presents with a combination of muscle weakness and muscle wasting.

Muscular dystrophy (MD) is a genetic disorder caused by incorrect or missing genetic information that leads to the gradual weakening of the muscle cells. Various causes lead to weak and deteriorating muscles depending on the type of muscular dystrophy the patient was affected by. However, there are many causes for muscular dystrophy due to the fact that there are thirty forms of muscular dystrophy, which are categorized under several categories. All are ultimately caused by autosomal recessive, autosomal dominant, sex-linked, and random mutations in very rare cases.

DMD is caused by a mutation in the X-linked dystrophin gene, which results in a dysfunctional dystrophin protein. Dystrophin is a cytoskeletal protein that provides mechanical stability to muscle cells by connecting the muscle sarcolemma to the basal lamina of the extracellular matrix (ECM), and without it there, the muscle cells typically undergo a process of degeneration and regeneration. This process is limited by the survival of satellite cells present since satellite cells can only undergo mitosis a limited amount of times. Sarcolemma instability typically results in excess intracellular amounts of both sodium and calcium, which causes ATP depletion and mitochondrial uncoupling (Horn & Schleip, 2012). Satellite cells only have a limited number times they can undergo mitosis, and once a patient can no longer generate healthy muscle cells, the patient will typically experience cell death. This cell death and necrosis usually