Muscular Dystrophy Research Paper

Credibility Statement: According to the "Muscular Dystrophies" by Harvey B.Sarnat in Nelson Textbook of Pediatrics, 20th Ed 2016, "A muscular dystrophy is distinguished from all other neuromuscular diseases by 4 obligatory criteria: It is a primary myopathy, it has a genetic basis,

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).

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

Duchenne muscular Dystrophy (DMD) is the most common out of nine types of muscular dystrophy. This genetic disorder causes progressive muscular weakness, and deterioration due to the lack of a protein called Dystrophin. This protein keeps the muscles in tack, so when it's missing, the muscles slowly break down. (MDA, 2015)

According to Green (2014) the (DMD) gene for dystrophin, which is a protein that is present in muscles, is the second largest gene. A deficiency of dystrophin results in the damage of muscle fibres, resulting in a loss of muscle functioning. This disorder affects mainly the legs and pelvic region of the body. However it could also affect the heart, the respiratory system, as well as rarely the brain. Duchenne

Autosomal dominant LGMD occur less often than recessive dominant LGMD. In the metabolism myotilin gene mutations occur, it may be due to a deficiency of vitamin B12, vitamin E, folate or exposures to nitrous oxide. LGMD 1A disease normally occurs from the age 42 to 77, and develops in the same areas (hip, shoulder and back) however, it could spread to the leg muscles. Due to the fact that myotilin gene is mutated, it causes focal myofibrillar destruction to occur, and this results in intracytoplasmic deposits to float around in the blood stream. In one case study done in Barcelona in 2011, there were 13 patients who were all diagnosed with myotilin gene mutation disease. The results showed that the deposits of myofibrillar became immune to myotilin and cluster up the vacuoles and interfere with the Z-lines. Overall the study revealed that each patient shared the same phenotypic characteristics, LGMD 1A and myofibrillar myopathy variations which emphasizes that LGMD is a developing neuromuscular disorder (Montse,

Facioscapulohumeral muscular dystrophy affects the face, scapula and upper arms. Symptoms develop early in childhood and will progress throughout the years and by the age of 20, almost all people who are affected will show symptoms of Faciosapulohumeral

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 muscular dystrophy is a genetic disease that pertains only to males caused by a defective gene and normally leads to many problems affecting a child’s leg movement. This disease got its name from the neurologist, Guillaume Benjamin Amand Duchenne. He was a very consistent doctor who followed many patients medical records. He diagnosed one of his patients with muscular dystrophy and then the disease picked up his name, due to his founding.

When looking at a potential therapy or cure, it is important to recognize exactly how the disease affects the body. Duchenne Muscular Dystrophy (DMD) is one of the most severe myopathies, or muscle diseases (Cacchiarelli et al). To be diagnosed with DMD, a patient must have a mutation in the dystrophin gene present (Muscular Dystrophy Association). Moreover, that mutation in the gene is what causes the lack of dystrophin synthesis. Dystrophin is protein in the body that keeps the muscles intact (Muscular Dystrophy Association). Therefore, a lack of dystrophin causes the muscles to deteriorate; which is identified as dystrophy. When the body lacks strong healthy muscle, it does not only become weak; the body itself begins to shut down. Our organs depend on the muscles that allow us to walk, eat, and breathe to provide energy, nutrients, and oxygen. For this reason, DMD eventually leads to a short life.

Myotonic dystrophy (DM) is a disorder that affects multiple systems in the body. The disease is broken down into two categories, myotonic dystrophy I & II. Myotonic dystrophy can be responsible for deterioration of smooth and skeletal muscle, central nervous system, endocrine, cardiac, and ocular systems. Myotonic dystrophy can contrast from mild to severe, and has “been categorized into three somewhat overlapping phenotypes: mild, classic, and congenital” (Bird et al., 1999). Myotonic dystrophy is a multisystem disease damaging to the muscles, heart, brain, eyes and other organs. Myotonia is defined by the stiffness and tightness of the muscles causing some muscles to stay in the contracted position much longer than

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

Muscular dystrophy is defined as a disease that the causes a loss of muscle mass and progressive weakness. Muscular dystrophy is not and infectious disease, but one that is passed on through abnormal gene mutations that prevent the production of the proteins that are needed to form healthy muscles. Muscular dystrophy is not a single disease, but a group of diseases. There are multiple types of muscular dystrophy, such as Duchenne muscular dystrophy, which is the most common form in male children. Other forms of muscular dystrophy include Myotonic, Becker, Limb-Girdle, Facioscapulohumeral, Congenital, Oculopharyngeal, Distal and Emery-Dreifuss. Muscular dystrophy can materialize in anyone from infants to seniors.

Involuntary muscles are the muscles you do not have control of, such as the heart, some organs

This individual study was written to bring attention to a group of diseases known as Muscular Dystrophy (MD). In the past, there was little known about these diseases. The basic understanding was people with MD displayed muscle loss, and the disease was most commonly found in males. This group of diseases left scientists bewildered and wondering what MD exactly was. Different cases of MD displayed different characteristics. There were some forms where the face was affected, where the farther away muscles (distal) were affected, and some forms that affected that hip and legs. There was also variation in these diseases. One could have the same type, only being much more severe or mild. As of today, there is still no cure for this