Essay On Myotonic Muscular Dystrophy

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.

Duchenne Muscular Dystrophy is a disease which causes skeletal muscle to waste away, this wasting of muscle is caused by a mutation of the dystrophin gene (Meregalli et al., 2013, p. 4251).

One major problem associated with Duchenne Muscular Dystrophy (DMD) is the prevalence of fibrosis that occurs in the skeletal muscles, heart, and lungs of these patients. In the heart and lungs, fibrosis inhibits the body’s ability to perform cardiopulmonary or respiratory function, respectively. These conditions typically result in death if no emergency medical attention is given. Fibrosis can also present as contractures in the skeletal muscle fibers, which will usually result in the loss of skeletal muscular function and the need for surgery.

Duchenne Muscular Dystrophy (DMD) refers to the muscle appearing poorly nourished because of degeneration, which leads to muscle weakness and lost of muscle mass. DMD is a disorder that is caused by genetic mutations in the dystrophin gene. Dystrophin is a muscle that connects the cytoskeleton to the extracellular matrix (ECM). Tidy, D. C. (2016, April 15). When nonsense mutation or frameshift mutation occurs in dystrophin, it results in no protein at all, which causes a severe form of DMD. A dystrophin gene has more base pairs and more exons in comparison to most genes, which means the dysophin gene has a higher chance for mistakes during meiosis. The disorder affects one in 5000 newborn males. Tidy, D. C. (2016, April 15). Males have one

Located on the X chromosome lies a gene whose improper function would take from us what we often sloppily overlook -- our mobility. The freedom to dance with poise, to run with agility, to dress one’s self, to bend over and scoop a dropped pencil off the floor are all motions which are only dreamt of by those with Duchenne Muscular Dystrophy. An X-linked recessive disorder which can be exhibited in both males and females, DMD is most prominent in males, affecting 3500 boys in the world (McKusick). DMD affects muscle -- skeletal, smooth, and cardiac -- by causing degeneration (McKusick). Diagnosis occurs around five years old, and by age ten, a wheelchair is often necessary for the patient. The skeletal

Duchenne’s muscular dystrophy is one of the most common forms over childhood muscular dystrophy and primarily affects boys; in total there are 30 different forms of muscular dystrophy 50% being duchenne’s muscular dystrophy (NIH, 2013). This type of muscular dystrophy usually begins to show symptoms around the pre-school age and affects the lower extremities first. By the age of twelve, most boys are in a wheelchair as the trunk muscles being to weaken leading to scoliosis and kyphosis. Eventually the diaphragm begins to weaken and young men with Duchenne’s muscular dystrophy will need assistance with breathing through the use of a ventilator (Naff, C. 2012). According to the 1st Edition of Perspectives on Disease and Disorders Muscular Dystrophy by the age of eighteen most young men would have experienced a cardio myopathy (weakening or the heart muscle) (Naff, C. 2012). Duchenne’s muscular dystrophy (DMD) is a chromosome X-linked and genetically inherited neuromuscular disease. The New England Journal of Medicine reports that Duchenne’s muscular dystrophy affects 1 in 3500 new born baby boys. Duchenne’s

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

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.

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

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.

Muscle contraction can be understood as the consequence of a process of transmission of action potentials from one neuron to another. A chemical called acetylcholine is the neurotransmitter released from the presynaptic neuron. As the postsynaptic cells on the muscle cell membrane receive the acetylcholine, the channels for the cations sodium and potassium are opened. These cations produce a net depolarization of the cell membrane and this electrical signal travels along the muscle fibers. Through the movement of calcium ions, the muscle action potential is taken into actual muscle contraction with the interaction of two types of proteins, actin and myosin.

There are more than twenty subtypes of LGMD, each is classified according to the genetic flaws that appear to cause them. Fifteen genes that lead to the production of muscle proteins have been identified as definite causes of LGMD when they are flawed. According to the Muscular Dystrophy Association, “Type 1 LGMDs are dominantly inherited, requiring only one mutation for symptoms to result. Type 2 LGMDs are recessively inherited, requiring two mutations — one from each parent — for symptoms to appear. Sometimes, LGMDs are referred to by their names, not their numbers, and some types have not been assigned numbers.” When one of these genes is faulty and protein problems arise, muscle cells and fibers do not function properly. The muscles then

Bigorexia as know as muscle dysmorphia and both have definitions. Bigorexia is defined as “a mental disorder characterized by a normal person´s obsession with an imagined defect in physical appearance; also called muscle dysmorphia” and muscle dysmorphia is defined as “a mental disorder primarily affecting males, characterized by obsessions about a perceived lack of muscularity, leading to compulsive exercising, use of anabolic steroids, etc.” in dictionary.com.

Taking the time to accept you condition your self is very important. Once this is accomplished we can work in helping you family and friends understand your condition.

The Charitable Organization that I picked to talk about is The Muscular Dystrophy Association, I picked this one because it seems very interesting to me, I wanted to know who can get it if adults can or not, and I wanted to learn about what it is, that not only that I, also wanted to know how you get it and how do you treat and know what their mission is and goals, and I wanted to learn more about it.