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

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.

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

Television ads, social media posts, and news reports regarding weight loss supplements and strategies reveal society’s growing concern over its physical appearances. While anorexia and bulimia are commonly known eating disorders where people alter their eating habits in unsafe methods because they feel they are too big, muscle dysmorphia is a less renowned perception that leads those who suffer from it to feel as if they are too small. Unlike those who feel they are too big and change their consumption of foods, those who have muscle dysmorphia can develop a dependence on steroids rather than food alone to achieve the results they desire. In reality, though, those who suffer from muscle dysmorphia are likely to be unsatisfied with any progress

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.

Duchenne's muscular dystrophy, also known as psuedohypertrophic muscular dystrophy, is a typical sex-linked disorder in which the muscles degenerate throughout a person's life. It literally means "faulty nutrition of the muscles." Muscular Dystrophy has no cures, and this particular type of muscular dystrophy affects only males. One in 3,500 baby boys are born with this disorder and survival is rare beyond the early 30s, death is usually caused by a respiratory disease. (ygyh.org)

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.

Skeletal muscle plays a pivotal role in regulating systemic glucose homeostasis in part through the conserved cellular energy sensor AMP-activated protein kinase (AMPK). AMPK activation increases glucose uptake, lipid oxidation and mitochondrial biogenesis, thereby enhancing muscle insulin sensitivity and whole-body energy metabolism. Here we show that the H19 long noncoding RNA (lncRNA) post-transcriptionally increases expression of the atypical dual-specificity phosphatase 27 (DUSP27) which forms complexes with and activates AMPK in muscle. Consistent with decreased H19 expression in muscle of insulin resistant human subjects and rodents, mice with genetic H19 ablation exhibit musclesystemic insulin resistance and altered whole-body

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.

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.