...Caplan Pathology 3 November 2014 Duchenne Muscular Dystrophy Duchenne muscular dystrophy (DMD) is a common disorder affecting the muscular system. This form of muscular dystrophy is inherited and is caused by a genetic mutation that affects the dystrophin proteins of the muscles. Dystrophin is the largest gene known to man. (Tennyson, Klamut, Warton 1995). Hundreds of genes are responsible for producing the proteins that protect these muscle fibers from damage. In DMD, the dystrophin gene is defective. Where most forms of muscular dystrophy worsen slowly over time, Duchenne grows worse quite rapidly. Duchenne muscular is linked to the X-chromosome so the mother carries the disease and the defective gene but will likely never show symptoms. Their sons will each have a 50% chance of getting the disease and their daughters will each have a 50% chance of being carriers of the disease (Bushby, Finkel, Birnkrant, Case, Clemens, Cripe, Kaul, Kinnett, McDonald, Pandya, Poysky, Shapiro, Tomezsko, Constantin, 2010). The women who are carriers will pass the gene onto their children. One in every 3,500 live male births are diagnosed with Duchenne muscular dystrophy (Chen, Ma, Zhang, Chen, Xing, Wang, Zhang, Luo, 2014). Most of these diagnoses have a line of family history with Duchenne muscular dystrophy that they were unaware of because it had not shown up in several generations. Females who are diagnosed with Duchenne muscular dystrophy and show symptoms tend to have very mild cases...
Words: 1814 - Pages: 8
...Introduction Duchenne muscular dystrophy, named after the neurologist who first described it, Guillaume Benjamin Amand Duchenne in the 1800, is a common type of muscular dystrophy among children, in which the muscle becomes weak and degenerates progressively. Prior to 1986, there was very little information before MDA-supported researchers succeeded in the identification of the particular gene on the X-chromosome that after mutation led to the disease (MDA, 2016). The gene was identified and named as dystrophin. Dystrophin is a protein that aids in keeping the muscles together. Duchenne muscular dystrophy is heritable as an X-linked recessive gene and is passed by the mother who is often referred to as a carrier. The disease majorly affects...
Words: 770 - Pages: 4
...Duchenne Muscular Dystrophy Imagine you’re going to be a new parent to a baby boy who will grow up being able to run, being able to ride his bike and being able to play various sports. Now imagine that you’re going to be a new parent to a baby boy who will start his life and be able to run around, be able to ride his bike and be able throw a ball just like any normal child. However, by around the age of 12 he will be unable to walk. This circumstance could be brought on by an incurable muscle weakening disorder called Duchenne Muscular Dystrophy. Although, there are many different forms of Muscular Dystrophy; Duchenne Muscular Dystrophy or DMD as it’s commonly known is the most common form. DMD is a neuromuscular disorder caused by a flawed gene for dystrophin (a protein in the muscles). A neuromuscular disorder affects nerves that control voluntary muscles. Every 1 out of 3600 males inherit this disorder; while it is extremely rare for a female to inherit it. Unfortunately, someone with DMD may not make it through their late teens or early adulthood. Living with Duchenne Muscular Dystrophy is challenging and makes everyday life a struggle not only for the person living with it but for the family as well. There is currently no cure for DMD but luckily there is some hope. Many young boys dream about being able to play a professional sport when they grow up. Their mother’s and father’s devote their time taking their child to practices and games in order for their child to reach...
Words: 822 - Pages: 4
...Muscular Dystrophy Disease diary #2 Today I will be explaining Muscular Dystrophy and all of the types. So let’s start off with what it is. Muscular Dystrophy is an inherited disease that causes muscles to progressively become weaker. In some forms it causes the heart and organs to weaken. Some forms only appear in men but many are in both men and women. There are eight major types of Muscular Dystrophy that I will be explaining next. So let’s move on to see what kind of Dystrophy there is. The first type is called Myotonic. This form appears most common in adults but can appear mainly from childhood to adults. This can appear in newborns but it is very rare. The next type is Duchenne. This is one of the types that only appear in men. It affects 1 in 3500 people. Most people affected in this form usually die before age 20....
Words: 405 - Pages: 2
...Duchenne Muscular Dystrophy Muscular Dystrophy is a genetic disorder that causes one muscle weakness. This genetic disorder prevents the body from a protein that is integral for the body to build muscles and to build strength in the muscles, as well. There are several different types of muscular dystrophy and the symptoms of each may vary. The most commonly known muscular dystrophy is known as Duchenne Muscular Dystrophy. This genetic disorder prevents one from all types of muscle movement at such a young age in life. Duchenne Muscular Dystrophy is a genetic disorder that progressively degenerates the muscles and causes weakness. This genetic disorder is caused by the missing protein, dystrophin, which aids in keeping the muscles intact. Without...
Words: 596 - Pages: 3
...Duchenne Muscular Dystrophy Duchene Muscular Dystrophy is a genetic disorder that is distinguished by progressive muscle degeneration and weakness. This genetic disorder is cause by an absence of Dystrophin . The onset of symptoms begin early in childhood between the age of three and five. This disease primarily affects males, but in some rare cases it has also affected females. What are the symptoms? As early as three the signs of muscle weakness begin to appear. The first muscles to be affected are the hips, pelvic area, thighs, and shoulders. Later on the voluntary skeletal muscles in the arms, legs, and trunk areas are affected. The calves of those affected are usually enlarged. The heart and respiratory system are affected beginning...
Words: 431 - Pages: 2
...Muscular Dystrophy, or MD, is a mutation that obstructs the production of proteins that is necessary to create healthy muscles. This generates weakness in the body and limits it from functioning properly. The disease can become so terrible that a person with it can no longer do simple tasks with their arms, legs, and extremities such as hands and feet. The cause of MD is due to the lack of dystrophin, a protein found on the X chromosome, which keeps the muscles together. Symptoms of this disorder usually manifest themselves as early as the age of two and three years of age. These signs typically are muscle weakness, the difficulty or inability to stand properly, trouble learning or behavioral problems, not being able to sit or walk without assistance, waddling gait, walking on only the front (toes and balls) of the feet, clumsiness, trouble climbing stairs, not being able to rise from a downward position such as sitting or lying, calves that are larger than usual and sometimes painful, scoliosis (curved spine), and difficulty breathing....
Words: 612 - Pages: 3
...linked inheritance. Masanori Funakoshi, Yuichi Tsuchiya, Kiichi Arahata Introduction: The Emery-Dreifuss muscular dystrophy is a form of muscular dystrophy that frequently presents early contractures and cardiac conduction defects, caused by emerin deficiency in the inner nuclear membrane of the muscular fibres. Case presentation: X- linked Emery-Dreifuss Muscular Dystrophy: The Propositus, 54 years old man , was one of the monozygotic twins .Admitted to hospital because of the chest pain and was found to have atrial arrest , for which a pace maker was inserted . Elbow contractures had been noted and had been toe walking since early childhood. Mild weakness has been noticed around 10 years of age. He had had a cerebral accident with left hemi paresis at age of 31, slows heart rate and had been on anticoagulant since...
Words: 468 - Pages: 2
...provide mechanical reinforcement to the structure of the sarcolemma and protect the membrane from stress or tearing during contraction. Duchenne muscular dystrophy is an inherited neuromuscular disorder that affects the musculoskeletal system, and is caused by a genetic mutation which disrupts the production of dystrophin. It causes progressive loss of muscle mass and eventually leads to death of the muscle tissue. The main symptom of muscular dystrophy is progressive muscle weakness. However, different signs and symptoms begin at different ages and in different muscle groups depending on the specific type of muscular...
Words: 1126 - Pages: 5
...May 6, 2009 — Duchenne muscular dystrophy (DMD), an X-linked disorder, is the most common muscular dystrophy in children, presenting in early childhood and characterized by proximal muscle weakness and calf hypertrophy in affected boys. Patients usually become wheelchair-bound by the age of 12 years, and die of cardiorespiratory complications in their late teens to early twenties. Advances in the management of DMD, including treatment with corticosteroids and the use of intermittent positive pressure ventilation have provided improvements in function, ambulation, quality of life and life expectancy, although novel therapies still aim to provide a cure for this devastating disorder. The clinical features, investigations, and management of DMD...
Words: 930 - Pages: 4
...1) The types of muscles that are affected by Duchene Muscular Dystrophy are skeletal and cardiac muscles. 2) The protein that composes the Thick filament are called myosin. The proteins that compose the thin filament are called actin. The myofilment that troponin is associated with is actin. 3) The role of calcium in muscle contraction is to bond with the troponin, which allows the tropmyosin to move its potion that is blocking the active sites on actin filaments so cross bridges can attach. The calcium regulates muscle contractions. 4) Acetylcholine is the neurotransmitter that is released by motor neurons. 5) A motor unit is a combination of a motor neuron that is connected to a multitude of different skeletal muscle fibers. Semimembranosus...
Words: 659 - Pages: 3
...Given that the patient shows signs of loss of control of limbs and slight speech impediment, she could be suffering from a neuro-muscular disease. There are several neuromuscular diseases such as: Huntington’s disease, Parkinson’s disease or Lou Gehrig’s Disease. To start off, since the patient experiences weakness in the limbs, she could be suffering from a type of muscular dystrophy (MD). There are many kinds of MDs, all of which cause weakness by the degeneration of muscular tissue in the body. Looking at the patient’s age and that she feels weakness in the distal muscles, it can also be hypothesized that she could be suffering from a form of distal myopathy. Most distal myopathies occur at a later stage in life and atrophy happens...
Words: 1677 - Pages: 7
...not a disability, it’s a condition making the argument against the city that she is a handicap invalid. Technically she’s not a handicap- If you can no longer work due to scoliosis, you may be eligible to receive Social Security Disability benefits which she did not apply for at the time. Scoliosis is a lateral (toward the side) curvature in the normally straight vertical line of the spine. When viewed from the side, the spine should show a mild roundness in the upper back and shows a degree of swayback (inward curvature) in the lower back. Types of Scoliosis – conditions 1. Neuromuscular scoliosis. A result of abnormal muscles or nerves. Frequently seen in people with other disorders, including other birth defects such as muscular dystrophy, cerebral palsy, Spina bifida or Marfan syndrome (an inherited connective tissue disease) those with various conditions that are accompanied by it, result in, paralysis. : In this type of scoliosis, there is a problem when the bones of the spine are formed. Either the bones of the spine fail to form completely or they fail to separate from each other during fetal development. People with these conditions often develop a long C-shaped curve and have weak muscles that are unable to hold them up straight. If the curve is present at birth, it is called congenital. (Congenital scoliosis caused by a bone abnormality present at birth .This type of scoliosis is often much more severe and needs more aggressive treatment than other forms of...
Words: 1161 - Pages: 5
...This weekend, the Muscular Dystrophy Association nationally broadcasted the 48th annual telethon over Labor Day weekend, successful raising $59.6 million. Starting on Sunday, there was a two hour “MDA Show of Strength” that aired on ABC with the President and CEO, Steven M. Derks, addressing how the money raised will be applied towards treatment of muscular dystrophy and related diseases, as well as funding for research to find a cure. The total amount of money raised had been donated from pledges during the show and went through midnight Monday. It also included money that had been raised by MDA sponsors. For this event, many celebrities helped make it a success. The highlights of this telethon included having the Backstreet Boys open the show with a dual performance of “In a World Like This” and “I Want It That Way.” During this national broadcast, there were performances by teen pop sensation Austin Mahone, who was the 2013 MTV VMA recipient for “Artist to Watch,” performing his hit single “What About Love”. Country star Darius Rucker performed “Radio” and “Glee” actor/singer Matthew Morrison performed “On the Street Where You Live.” There were also performances by music artists Lee Ann Womack and Luke Bryan. In addition to these performances, there were also celebrity appearances by Ryan Seacrest, Paula Abdul, Enrique Iglesias, “American Idol” runner-up Jessica Sanchez, Universal recording artist and star from “The Voice” Chris Mann, and hip-hop dance crew Jabbawockeez. ...
Words: 262 - Pages: 2
...Duchenne Muscular Dystrophy is one of the most common forms of muscular dystrophy, it can be detected genetic studies during pregnancy. Even though the disease may be identified, there is still no way to prevent it. One in every 3,000 children are born with this condition.(Duchenne Muscular Dystrophy Facts and Information (2009-03-01)) Duchenne Muscular Dystrophy (DMD) is a genetic degenerative diseases that affects voluntary muscles and causes intense muscle pain. Other areas such as the brain, throat, heart, diaphragm, stomach, intestines, and spine can also be affected by this disease. Symptoms usually appear in male children before age 6 and may be visible in early infancy. To diagnose DMD, a muscle biopsy can be done to look for abnormal...
Words: 1039 - Pages: 5
