Duchenne Muscular Dystrophy (DMD)

Duchenne Muscular Dystrophy (DMD)
Description
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)
Epidemiology
Duchenne Muscular Dystrophy is the most common muscular dystrophy disorder. In the United States DMD affects 1 in 3,500 males. 2/3 of those
cases are passed down for the mothers and 1/3 are random mutations. Internationally the statistics are similar. (Medscape, 2015)
Modes of Inheritance
Duchenne Muscular Dystrophy is a genetic disorder that is passed on through the x chromosomes. Only men are ... Show more content on
Helpwriting.net ...
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,

... Get more on HelpWriting.net ...

Essay On Duchenne's Muscular Dystrophy
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 ... Show more content on
Helpwriting.net ...
Both research articles focused on the production of viable dystrophin protein in test subjects. Throughout the research I feel as though the most
promising treatment between the two studies would be the study where the patient subject that were taking ataluren. The end result of the trial that
included ataluren showed that more than half of the young men that participated in this study ended up having a positive result. That positive result
was the increase of dystrophin, so they had a pretty positive result. The other treatment type where the subjects received injections in the tibialis
anterior muscle was not necessarily where they wanted their study to be at the time, but it showed

Duchenne Muscular Dystrophy ( Dmd )
Duchenne Muscular Dystrophy Genetic Disorder
Introduction to Duchenne Muscular Dystrophy
Duchenne muscular dystrophy (DMD) is one of many types of muscular dystrophy disorders, which affect the muscle fibers. It is the most aggressive
form of muscular dystrophy. The muscle fibers gradually become weaker and incapacitate the affected individual. "DMD is a recessive, fatal, X–linked
disorder occurring at a frequency of about 1 in 3,500 new–born males (NCBI, 2014)." Males are more susceptible to inherit this disorder because DMD
is passed on through the X chromosome. Women can be carriers of the disorder without any adverse affects. The female carrier has a 50% chance of
passing on this trait to an offspring. It is extremely rare that a female will have DMD. Symptoms of this disorder include muscle weakness that starts at
the legs and progresses at a fast rate though out the body. The rapid progression of muscular dystrophy means that the inflicted individual will
eventually be confined to a wheelchair in their life time. "Wheelchair dependency had a median age of 10 years (OMIM, 2013)." Other symptoms
include degraded motor skills as well as learning disabilities. As muscle mass diminishes the individual suffers from heart and lung complications
eventually leading to the persons' death. "Death occurred at a median age of 17 years (OMIM, 2013)." The X–linked inherited disease is cased by a
mutation in the DNA segment of the X chromosome in the DMD (P11532) gene. This

The Affects of Duchenne Muscular Distrophy
The affects of Duchenne muscular dystrophy as well as various solutions performed to provide accurate diagnoses and treatment of Duchenne muscular
dystrophy.
1.Introduction
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.
2.Overview of Duchenne muscular dystrophy
Duchenne muscular dystrophy was discovered by a French neurologist, Guillaume Duchenne. According to Emery (1994 : 23) Guillaume Duchenne
invented an instrument, Duchenne's trocar, to remove small portions of tissue in the body (biopsy).
Duchenne muscular dystrophy is a gender–linked inherited disorder. To illustrate, males only have one X chromosome, therefore they do not have a
second X chromosome to make up for the damaged gene. Females can only become carriers of the disease, as females have a second X chromosomes
to make up for the damaged gene.
http://www.nlm.nih.gov/medlineplus/ency/imagepages/19097.htm
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

WhatВґs Duchenne Muscular Dystrophy?
Topic Paper: Duchenne Muscular Dystrophy
Duchenne Muscular Dystrophy is an X–linked genetic disorder caused by a genetic mutation in the dystrophin gene. The disorder is recessive,
therefore males are more at risk for displaying the mutation than women. However, women can be carriers and have mild effects. Duchenne Muscular
Dystrophy affects the neuromuscular systems, which can result in deterioration of muscles and eventually death.1 The disorder usually presents itself
in early childhood, and can affect the respiratory and cardio systems. The disease can cause spinal problems, respiratory problems, intellectual
disability, and cardiac disease which is the main cause of death.4
Duchenne Muscular Dystrophy is caused by a genetic mutation in ... Show more content on Helpwriting.net ...
The study used Duchenne Muscular Dystrophy patients age–matched with healthy volunteers to take serum sample and test for metabolic biomarkers.
Fourteen metabolites were found using a coupled system of liquid chromatography and mass spectroscopy. Of the fourteen found, the researchers found
a ratio of creatine to creatinine that increases with age in Duchenne Muscular Dystrophy patients and decreases with healthy volunteers.1 References
1.Boca SM, Nishida M, Harris M, et al. (2016). Discovery of Metabolic Biomarkers for Duchenne Muscular Dystrophy within a Natural History Study.
PLoS ONE, 11(4), e0153461. doi:10.1371/journal.pone.0153461
2.Nowak KJ, & Davies KE. (2004). Duchenne muscular dystrophy and dystrophin: pathogenesis and opportunities for treatment. EMBO Reports, 5(9),
872–876. doi:10.1038/sj.embor.7400221
3.Pasternak C, Wong S, Elson EL. (1995). Mechanical function of dystrophin in muscle cells. The Journal of Cell Biology, 128(3), 355–361.
doi:10.1083/jcb.128.3.355
4.Yiu EM, Kornberg AJ. (2008). Duchenne Muscular Dystrophy. Neurology India, 56(3), 236
–247.

Dystrophin Essay
Starting with the skeletal muscle body to the fascicle to the muscle fiber to the myofibril to the sarcomere to the myofilaments to the protein filaments
to the protein complexes themselves. This is where we find dystrophin, a large X–linked gene. Dystrophin is the official name for the DMD gene
within the body. Dystrophin is the result of the Duchenne muscular dystrophy gene locus Dystrophin is located within both skeletal and cardiac muscle,
even within some nerve cells, however it is not primarily located in any smooth muscle (Genetics Home Reference 2012).
Dystrophin works together with other proteins to make muscle fibers stronger and to keep them from injuring themselves during muscle relaxation and
contraction along with other proteins in a protein complex. Inside of this protein complex the dystrophin acts as the foundation that connects the actin
cytoskeleton of each muscle cell with matrix of other proteins in the extracellular fluid, acting as a spring between the intracellular fluid and actin
skeleton. The spring or coil like function of dystrophin allows localized stress to be relocated throughout a cell. Dystrophin can play a role in the
contacting of other cells ... Show more content on Helpwriting.net ...
Dystrophin plays a role in the redistribution of stress placed on a cell by acting as a coil for all of the stress to be absorbed by. In other parts,
dystrophin fixes cells in certain positions which allows for protections of the cells during either skeletal or cardiac muscle contraction. It also
theoretically helps in the communication of the synapse in the nerve cells of the brain. A mutation of this gene causes a disease known as muscular
dystrophy. Most commonly this mutation happens from the inability of protein expression. This can either be Becker muscular dystrophy or Duchenne
muscular dystrophy (Henderson 2010). Both of these types of muscular dystrophy result in extreme muscle

Causes Of Muscular Dystrophy
Causes, Pathogenesis and Outcomes for Duchenne Muscular Dystrophy Introduction Muscular dystrophy is a genetic disorder that causes progressive
deterioration of muscles. This essay is going to focus on Duchenne Muscular Dystrophy (DMD) as it is the most common type of muscular dystrophy
in Australia and throughout the world. It is also one of the most severe forms, with many patients in wheelchairs by their mid–teens (Muscular
Dystrophy Foundation, 2014). It is estimated that DMD affects 1 in 5000 boys and patients will present with symptoms around the age of 4. Patients
may have a range of symptoms including; motor delays, abnormal walking, difficulty getting off the ground, frequent falls and learning difficulties.
Eventually DMD can manifest into cardiac and respiratory problems (Yiu and Kornberg, 2015). Causes and Pathogenesis DMD is an X–linked... Show
more content on Helpwriting.net ...
Cirak, S Arechavala–Gomez, V Guglieri, M Feng, L Torelli, Anthony, K Abbs, S Garralda, ME Bourke, J Wells, DJ Dickson, G Wood, MJA Wilton,
SD Straub, V Kole, R Shrewsbury, SB Sewry, C Morgan, JE Bushby, K, Muntoni, F 2011, 'Exon skipping and dystrophin restoration in patients with
Duchenne muscular dystrophy after systemic phosphorodiamidate morpholino oligomer treatment: an open–label, phase 2, dose–escalation study,' The
Lancet, vol 378, no 9791, pg 595–605 Falzarano, MS Scotton, C Passarelli, C Ferlini, A 2015, 'Duchenne muscular dystrophy: diagnosis to therapy,'
Molecules, vol 20, pg 18168 – 18184 Muscular Dystrophy Foundation Australia, 2014, 'About Muscular Dystrophy', Muscular Dystrophy Foundation
Australia, Passamano, L Taqlia, A Viggiano, E D'Ambrosio, P Scutifero, M Rosaria, CM Torre, V DE Luca, F Picillo, E Paciello, O Piluso, G Nigro,
G Politano, L 2012, 'Improvement of survival in duchenne muscular dystrophy: retrospective anslysis of 835 patients,' Acta Myologica, vol 31, no 2,
pg 121 –125 Yiu, EM Kornberg, AJ 2015, 'Duchenne muscular dystrophy,' The Journal of Paediatrics, vol 51,

Influence Of Muscular Dystrophy
Inheritance of Muscular Dystrophy Muscular Dystrophy is a condition that affects the growth of muscles in the body. MD effects for the most part
manly males (1 in every 7,250 males) (CDC.gov). There are two main forms of MD, one is call Duchenne MD and the other Becker MD with a
lifespan average of 30 years old. Duchenne MD is the more severe form because no dystrophin is formed, when this happens the symptoms are
shown in early childhood usually by age 5. Becker MD is not as severe it is caused by misshapen dystrophin, when this happens symptoms are shown
later in life usually at age 10–20. Researchers identified that a gene in the X chromosome that when flawed it is the cause of MD. Dystrophin is the
gene that is needed in the X chromosome to have fully functioning muscle development. MD is inherited in only the X chromosome so males have a
50% chance of inheriting the condition if the mother is a carrier, but females have a very low risk because they get an X chromosome from both
mother and father. This condition is an X–linked recessive pattern. If a female inherits a mutated dystrophin gene from one of her parents, she will
usually get a healthy dystrophin gene from her other parent because the father can pass the recessive gene in the X chromosomes. The female
becomes a carrier just like her mother because the mutation is still in her genes . A male who mother who's is a carrier has a 50% chance of inheriting
the mutation and if they do inherit the gene they will develop the disease because they can not rely on ... Show more content on Helpwriting.net ...
It is a X–linked recessive gene that is pass down from the mother and affects the development growth of males offspring, and also can be passed
down to the female offspring but very really.. MD has a high inheritance rate of 50% in males. Males can not pass MD to the offsprings. MD is a
really interesting but sad diseases because of the inheritance and

Duchenne Muscular Dystrophy: A Genetic Disease
DMD occurs at a frequency of one per 3,500 live births (MD). Muscular Dystrophy (MD) is the name for a group of disorders where muscle size
and strength decrease over time. (DMD) is a genetic disease that begins when the occupant is three. Most (MD) involve the muscle cells dying and
then being replaced by fat and connective tissue. These muscles cells being replace by fat causes the muscles to weaken over time which makes
(DMD) a degenerative disease. The end results is the patient loses all control over his or her muscles, is no longer able to walk, and eventually dies of
respiratory failure.
What's (DMD)? (DMD) is the abbreviation for the disease Duchenne Muscular Dystrophy which is the most common and most severe form of muscular
... Show more content on Helpwriting.net ...
Family history is a big part in diagnosing a person with (DMD) since it's a genetic disease. Patients with a family history of (DMD) can get a
screening including fetuses in the womb. Genetic testing for these conditions in future pregnancies of an affected individual or parents of an affected
individual can be done before birth through amniocentesis or chorionic villus sampling (Quercia). Amniocentesis is when doctors take fluid from the
amniotic sack and test it for and chromosomal abnormalities. (The main trait that causes (MD) is the protein dystrophin. Women pass on the genetic
disease and are the carriers. Women that are carriers of (DMD) can have mild symptoms but won't be affected as a much as a male would since
females have an unaltered X chromosome. The most common mechanisms of mutation are deletions and duplications largely clustered in the "hot
spot," a DNA sequence associated with an abnormally high frequency of mutation or recombination (MD). The dystrophin gene defect is affecting
males in two out of three cases due to the X–linked inheritance (MD). One third of the cases of the gene defect is due to the defect happening as a
result of a mutation in the germ cells of parents (MD). Scientists also believe that since the mother is the carrier of (DMD) that the egg cell has a
dystrophin gene

Gene Therapy : An Experimental Technique
Gene therapy is an experimental technique that uses genes to treat or prevent disease. The concept of gene therapy is the modification of human DNA.
Within gene therapy, mutated gene that cause disease are replaced with healthy copy of the gene, mutated genes that are acting incorrectly are
inactivated. This process involves the transfer of the genetic material into a cell, tissue or to treat a patient suffering an illness or disease (Inder M.
Verma and Matthew D. Weitzman). In the future, this technique may allow doctors to treat a disorder instead of using drugs or surgery.
In initial stages, gene therapy was used to treat patients with only life threatening diseases and illnesses; however is it now used to treat
non–life–threating diseases too as a means to improve the standards of life of patients. Depending on the type of cell being treated, there are commonly
two different types of gene therapy used.
The first is somatic cell gene therapy (SCGT) which involves transferring a section of DNA into any cell, for instance cells of the bone marrow, expect
from sex cells such as gametes, gametocytes or undifferentiated stem cells. The alteration of these cells affects the patient only and any offspring
produced from the patient will not inherit the effects of the modified cells (Mavilio F; Ferrari G 2008).
The second main type of gene therapy is germline. This process involves altering the sperm, eggs or early embryos of an individual (Henzig 1998).
Any manipulation of the

The Most Common And Well Known Variation Of Md Is Duchenne
The most common and well known variation of MD is Duchenne MD (DMD). The person in history who gets the credit for first studying and
publishing details on this type of MD is rather complicated. The disease is actually named after Gulliaume Benjamin Amand Duchenne. Duchenne
first described his details of the disease in the late 1800s. Since the disease is named after him, it is highly accepted that he was the first; however,
there are many that simply do not agree on the matter. It has now come to light that a doctor from the United Kingdom named Edward Meryon
actually wrote his own account on the disease a decade before Duchenne. This type accounts for about half of all MD cases 2. Scott Giles stated that
"the incidence of DMD is... Show more content on Helpwriting.net ...
The enlarged calf muscle may be the next noticeable trait of a DMD patient. The patient's calf's look like they have muscle, but this enlargement of
the calves is actually fat. This is referred to as pseudo hypertrophy, and patients with pseudo hypertrophy of the calves usually walk on their toes due
to the contracture. Another initial sign of DMD would be waddling gait 1. This form of walking looks like a duck in a sense. It is where the
alternating steps are overstated and the hips are elevated more than normal.
Usually once atrophy of the hip musculature is noticed, shoulder weakness in noticed also. Those inflicted with DMD will also have trouble with
overhead activates, and keeping the shoulders flexed for long periods of time. Scott M. Giles actually lists the following muscles affected by DMD:
"Shoulder girdle musculature, pectorals, deltoids, rectus abdominals, gluteals, hamstrings, and calf muscles" 6. DMD patients continue to lose control
and strength in their lower extremity musculature and eventually have so much trouble walking they are confined to a wheelchair. There is not a set
age where this occurs, but the average is around twelve years old. The DMD muscles involved in eating, drinking, and of the eye are not touched by
the disease. They usually do not have any hearing deficits or stroke disorders 1.
There are several additional complications with DMD. It

Duchenne 's Muscular Dystrophy : A Progressive Genetic...
Duchenne's Muscular Dystrophy Duchenne's muscular dystrophy (DMD) is a progressive genetic disorder that leads to muscle atrophy and eventually
death. Diagnosing DMD consists of blood tests, genetic testing, and muscle biopsies. Signs and symptoms begin presenting in toddlers with DMD and
progressively worsen throughout life. There is no cure for DMD, and will cause terminal cardiopulmonary complications. Medical interventions consist
of corticosteroid treatment, respiratory management, cardiac management, psychological management, and physical therapy interventions. DMD is an
X–linked recessive chromosomal that affects 1 in 5,000 males (Yiu and Kornberg). DMD rarely affects females and when they are affected the
severity of the disease is much milder than the male cases (Bushby, Finkel and Birnkrant). The mother is the carrier of the DMD gene in 2/3 of cases
and can be genetic. The remaining 1/3 of cases are spontaneous mutations that occur in the mother's egg (Wong, McClaren and Dalton). Males have a
50% chance of inheriting the mutated gene from their mother and presenting with DMD, daughters have 50% chance of inheriting the gene and being
a carrier (carriers may not show symptoms but can pass the mutated gene on to their offspring). Fathers cannot pass the gene on to their sons but will
pass it on to their daughters (The Muscular Dystrophy Association). The mutation in the DMD gene disrupts dystrophin production. Dystrophin is a
protein that is responsible

Muscular Dystrophy Essay
Muscular Dystrophy
It is only recently that medicine, biology and even health care have become not only a primary concern of society but also one of the central focuses
of mainstream media. Indeed it is rare that a day goes by without an article on these topics on the cover of newspapers such as The New York Times.
Whereas this type of information used to be reserved for people in the field, daily program's such as CNN's Your Health have brought the science and
the debates around it to the center of our society. This essay shall focus on one of the most talked about, common and painful genetic disorders. After
explaining what the symptoms and causes for muscular dystrophy are we shall reflect upon the moral, ethical and practical ... Show more content on
Helpwriting.net ...
However, the disease progresses to the point that the children have difficulty rising from the floor and have an obvious waddling gait. This decline in
motor strength remains linear. The symptoms accentuate themselves between the age of 3 and 8. On average, functional ability declines rapidly after
age 8. By their 9th year some become confined to the wheelchair and by their 12th year most cannot remain ambulatory (Clinical pediatric neurology,
Pg. 182). Other symptoms include large and rubbery calf muscles and in Duchenne muscular dystrophy an IQ that is significantly lower than the
average, the mean IQ of affected children being of only 85. More importantly the pelvic weakness that prevented them from rising from the floor can
increase to such a degree that breathing becomes difficult and some patients can die of chocking.
Duchenne muscular dystrophy has a worldwide distribution, with a mean incidence of 1 per 3,500 male births (Clinical Pediatric Neurology, Pg.
180). The children lead a life ridden with difficulty and physical pain. While kids their age are seen running around playing, these boys rapidly loose
functional use of their limbs. There are also many other problems associated with muscle wasting. To be sure that the child has the disease a muscle
biopsy is usually done to check for dystrophin levels and confirm that the child does have DMD and not another disorder. Deterioration of

Muscular Dystrophy Case Study
Duchenne's Muscular Dystrophy (DMD) is caused by recessive mutations in the dystrophin gene on the X–chromosome affecting 1 in every 3,500
–5,000 male births. As shown in Fig. 1, dystrophin protein anchors the actin cytoskeleton to the extracellular matrix, playing critical roles in stabilizing
and protecting the muscle fibers against strain related injuries. As outlined in Fig. 2, dystrophin mutations lead to myocyte fragility and membrane
damages with repeated contractions, resulting in increased cell permeability. Consequently, calcium ions diffuse into the myocytes, activating
calcium–dependent proteases to cause further cell necrosis. , Additionally, creatine kinase (CK), a myocyte enzyme that stores energy for contraction,
leaks out ... Show more content on Helpwriting.net ...
Treatments are aimed to control symptoms, preserve muscle functions and improve quality of life. Prednisone is a type of commonly prescribed
corticosteroid known for its anti–inflammatory and immunosuppressive properties through direct gene expression regulations. The precise mechanism
by which prednisone increases muscle strength in DMD patients is unknown, but hypothesises have been made based on its modulatory effects in the
myocyte inflammation, degeneration and regeneration pathways following damage. As illustrated in Fig. 3, under healthy physiology condition,
myocyte damage stimulates signaling pathways that promotes both degeneration and regeneration of the damaged tissue to promote healing. The
extend of muscle healing is dependent on the balance between the two processes. As outlined in Fig. 4, initial myocyte damage activates inflammatory
cells such as neutrophils and macrophages to inflict further necrosis through the release of free radicals and proteases. The damaged myocytes are then
removed via phagocytosis to provide space for healthy tissue regeneration. The regeneration process is initiated through the activation of myocyte
precursor cells called satellite cells to differentiate and fuse at the site of damage. However the proliferating abilities of satellite cells are reduced in
DMD patients due to the absence of dystrophin proteins, resulting in impaired muscle regeneration capacities. As a result, inflammation

What is Muscular Dystrophy?
van Westrum,Steven Schade,et al. "Brain Natriuretic Peptide Is Not Predictive Of Dilated Cardiomyopathy In Becker And Duchenne Muscular
Dystrophy Patients And Carriers."BMC Neurology 13.1 (2013): 1–7. Academic Search Premier. Web. 15 Dec. 2013
Magee, Justin, Brian McClelland, and John Winder. "Current Issues With Standards In The Measurement And Documentation Of Human Skeletal
Anatomy." Journal Of Anatomy 221.3 (2012): 240–251. Academic Search Premier. Web. 16 Dec. 2013.
Muscular Dystrophy is a disorder that decreases the function of the body's muscles and others that control vital organs. Muscular dystrophy means that
the muscles lack nourishment causing them to lose their function and break down. All muscular dystrophy diseases have three things in common: they
are all progressive, each have the same characteristics and cause weakness, and are hereditary. The word dystrophy originates from the Greek terms
"dys," meaning abnormal, and "trophe," meaning nourishment(Westrum, Schade). Several of these diseases are very harmful to a person's movement.
It is caused by a mutation to a gene and is shown at birth or later in childhood.
The human body contains 434 skeletal muscles also known as voluntary muscles(Magee,McClelland,Winder). We move these muscles by relaxing or
contracting them. Other muscles such as smooth and heart muscles do not have to be controlled constantly. These diseases only affect voluntary
muscles, but one can end up with smooth muscle and heart

The Effect Of Insufficient Production Of Dystrophin
The contractile unit of a muscle cell is the sarcomere. Sarcomeres are mostly comprised of actin and myosin which pull and slide upon each other.
These contractile units are linked end to end, like a chain, throughout the length of any given muscle. Certain proteins link the ends of these chains to
the cell membrane. When a normally healthy individual exercises, some of these fibers, both in the sarcomere and at the connections to the cell wall,
will be broken down due to damage (Leyva, 2013). Associated with this process includes the rebuilding of these fibers, in which the body builds back
what was damaged stronger than before the damage occurred (Leyva, 2013). One of these end proteins is dystrophin. The purpose of this paper is to
explore the implications of insufficient production of dystrophin, as in DMD.
Pathology
Duchenne Muscular Dystrophy (DMD) is an X–linked genetic disorder in which muscle cells do not reproduce dystrophin. This means that during the
rebuilding of new muscle, the muscles of those individuals who have MD do not appropriately repair and rebuild the fibers containing dystrophin. In
essence, it is similar to a minor tendon tear on a microscopic level happening on the inside of the muscle. Due to this dysfunctional rebuilding of these
connective components, there is an even greater discrepancy between the amount of force the sarcomeres can produce and the amount of force the
fibers which connect to the cell membrane can withstand. This causes more

Tina Dao. Human Anatomy & Physiology I. M. Adnan Qureshi.
Tina Dao
Human Anatomy & Physiology I
M. Adnan Qureshi
30 March 2017
The Weakening and Loss of Muscle Caused by Muscular Dystrophy Disease As a whole, muscular dystrophy is a group of many different diseases
causing muscle weakness and muscle loss in skeletal muscles that control movement of the body (Korschun, 2007). Each distinction of this genetic
disease may affect different muscle groups and even have different symptoms. One thing these diseases have in common is that the person affected
will lose more and more muscle as they age. Currently, there is no cure for muscular dystrophy but there is treatment that may help alleviate the pain
and slowing the disease down (Muscular Dystrophy, n.d.). Most people are diagnosed at a very ... Show more content on Helpwriting.net ...
Lastly, imaging tests are used to examine the muscles. When muscles are broken down, fatty deposits replace it. Those who possess a muscular
dystrophy disease usually have more fat mass than those who are healthy (GuzmГЎn, GarcГa, & RodrГguez–Cruz, 2012). Imaging tests can show how
much muscle has been replaced with fat. The symptoms may seem obvious for muscular dystrophy. When muscles degenerate, they cannot be used
at the fullest potential. The earliest symptom may be delayed walking in children (Bushby et al., 2009). A reduction in size and strength of muscle is
another sign that muscles could be degenerating. The variations of muscular dystrophy disease target different and several muscles. Having trouble
using a group of muscles may be a sign of muscular dystrophy disease. Some may have trouble standing up, and some people may fall frequently
also (How is muscular, n.d.). If the patient has weak respiratory muscles, they may have trouble breathing due to a lack of airflow (Makker, H., M., &
P, 2012). Unfortunately, there is currently no cure for muscular dystrophy. However, there are treatments that may delay the progression of the disease,
alleviating the pain, and controlling the symptoms. Corticosteroids are the only medication to help slow down this disease so far (De Los

French Neurologist, Guillanume-Benjamin-Amand Duchenne
French neurologist, Guillanume–Benjamin–Amand Duchenne was born in Boulogne–sur–Mer, a French coastal village. Duchenne's family wanted him
to carry on the family's tradition as a seafarer; however, his dream was to practice medicine, so he followed his dream and studied medicine in Paris.
Once returning home, he began practicing medicine on the local sailors, fisherman, and family. After marrying his first wife and fathering a child, she
died of a puerperal infection. Shortly after his first marriage, Duchenne remarried his second wife, but that too was short lived. Duchenne divorced his
second wife and gave up his infant son, making him fall into a deep depression. Sometime during his depression, in 1862, Duchenne discovered the...
Show more content on Helpwriting.net ...
A case study done in 2014, estimated that there were approximately 45,000 known cases of Duchenne Muscular Dystrophy, which is, roughly, 1: 3,500
males–from all walks of life (W., 2014). Symptoms typically appear before age 6, rarely affecting young girls; however, girls do have a 50% chance of
being a carrier of the gene (National Human Genome Research Institute, April 18, 2013). Typically, girls and mothers are unaware of their mutated X
chromosome, and without genetic testing they will, more than likely, pass it on to their son. Patients with a severe case will usually have symptoms
that progress quickly, ranging from "mild skeletal muscle weakness [,] cardiac involvement [,] severe weakness or cardiac effect" (mda.org, September
20, 2016).
A few warning signs of Duchenne Muscular Dystrophy: ... Does someone within the family have Duchenne Muscular Dystrophy? Is the child not able
to walk, or having trouble getting up from the floor at 18 months? Can the child walk, but walks in a swayed back position, shoulders back, stomach
forward, and trouble with neck movement? Does the child have enlarged calf muscles?
... In some children, there are speech and language issues ("Diagnosis & Genetic Testing...", n.d.)

Lab Report
Hagen M, Ashraf M, Kim I, Weintraub N, Tang Y (2018) Effective regeneration of dystrophic muscle using autologous iPSC
–derived progenitors with
CRISPR–Cas9 mediated precise correction. Medical Hypotheses 110:97–100
PURPOSE. The study provides information on how CRISPR/Cas 9 protein technology can be used to correct the dystrophin gene mutation of iPSC
(induced pluripotent stem cells) myogenic progenitor cells.
METHODS. The study plans to use CRISPR/Cas9 technology in order to edit our genes through full exonal correction. This will result in full–length
dystrophin proteins. Next, the quality of the IPSC–derived myogenic progenitor cells will be tested through treatment of the DMD (Duchenne muscular
dystrophy) phenotype. Skin ... Show more content on Helpwriting.net ...
Molecular Medicine 121:923–929
PURPOSE. The purpose of this study is to examine how CRISPR genome editing technology can be used to change heart muscle dystrophin expression
and enable proper muscle function in dystrophic mice. Dystrophic cardiomyopathy is the most common cause of death in patients with DMD
(Duchenne muscular dystrophy).
METHODS. SaCas9 (clustered regularly interspaced short palindromic repeat–associated 9 form staphylococcus aureus) were clustered together with
RNA into a vector (adeno–associated virus vector). The vector was then inserted into the mdx/Utr+/– baby mice.
RESULTS. CRISPR–mediated genome editing was able to cut out the mutated exon 23 found in DMD mice. Immunofluorescence was used to
demonstrate that the dystrophin protein expression was indeed reestablished. Approximately 40% of dystrophin protein expression was regained.
Muscle function as well as expression was also reestablished. Cardiac muscle contractility improved significantly.
KEY RELEVANCE. This information which the study provides is useful because it exhibits confirmation that CRISPR–mediated genome editing can
be used as a possible method for repairing dystrophic cardiomyopathy anatomically as well as for other genetic diseases.
Kemaladewi D, Maino E, Hyatt E, Hou H, Ding M, Place K, Zhu X, Baghestani Z, Deshwar A, Merico D, Xiong H, Frey B, Wilson M, Ivakine E,
Cohn R (2017) Correction of a splicing defect in a

Essay On Duchenne Muscular Dystrophy
Duchenne muscular dystrophy, classified as a genetic disorder, is marked by progressive muscle degeneration and weakness. It is only one of the nine
forms of muscular dystrophy; however, around half of the people diagnosed with muscular dystrophy have Duchenne muscular dystrophy.
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.
DMD is the biggest (known) gene in the human body. It contains the directions to make the protein dystrophin. Dystrophin is found mostly in skeletal
muscles and heart muscles. Modest amounts are present in the brain, in nerve cells also. Dystrophin joins other proteins to form a protein complex, that
toil to strengthen muscle fibers and safeguard them from harm. Dystrophin complexes act as anchors (desmosomes), to ... Show more content on
Helpwriting.net ...
Enzyme tests scan for high levels of CK (creatine kinase), that would point to a muscle disease. Enzymes such as CK are typically released by
damaged muscles into the bloodstream. Electromyography measures the electrical activity in your muscles as they tighten and relax with an electrode
needle; variations in the pattern of electrical activity can affirm a muscle disease. Because Duchenne is a genetic disease, genetic testing is sometimes
used; blood samples will be inspected for mutations in some of the genes that can cause different types of muscular dystrophy, DMD in this case.
Next, a little piece of muscle may be removed during a muscle biopsy through an incision or hollow needle. The biopsy is able to distinguish muscular
dystrophies from other muscle diseases. Lung monitoring and heart monitoring tests may also be

Essay On Muscular Dystrophy
Muscular dystrophy is a lethal sex–linked disorder characterised by progressive muscle weakness and muscle degeneration. It has been a medical
problem for many years. In particularly Duchenne muscular dystrophy (DMD) for it is the most frequently occurring and one of the most rapidly
progressive in children neuromuscular disorders (MDA, 2015). DMD affects approximately 1 in 3600 live male births throughout the whole world
(MDA, 2015). DMD can cause or create an array of difficulties for diagnosed patients depending on how bad the patient's case of DMD is. This is all
as a result of the faulty or lack of the dystrophin gene, making it incredibly difficult for these patients to do simple activities like walking and running.
Currently there is no cure for DMD, but certain exercise therapy and muscle building medicines to slow down or reverse the progression of muscular
dystrophy. Other treatments are being tested to see if they could control or suppress the symptoms of DMD. These treatments include; albuterol, amino
acids, coenzyme Q10, carnitine, fish oil, creatine, green tea extracts and vitamin E (Haldeman–Englert, 2015). Despite these few temporary treatments
it is said that gene therapy could be used for human trials are very close to occurring. ... Show more content on Helpwriting.net ...
In which case steroids can be used and has been scientifically proven to slow the loss of muscle degeneration and muscle function (MDA, 2015).
That then temporarily extends the mobility of a patient with DMD. It is said that on average a boy with DMD taking steroids are able to walk for
three years longer than the boys who are not treated with steroids (MDA, 2015). The steroids can also help heart problems and curvature of the spine
for a medium period of time. Through the DMD patients using steroids since it has been introduced the life expectancy of DMD patients has
significantly increased (MDA,

Essay On Duchenne Muscular Dystrophy
Duchenne Muscular Dystrophy
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 ... Show
more content on Helpwriting.net ...
Sixty percent of patients with DMD have a dystrophin gene which holds a deletion (Bulman et al. 457). Another six to ten percent of patients have a
dystrophin gene which contains a duplication of one or more exons (Bulman et al. 457). Along with these mutations, other mapping techniques have
been used to distinguish further disruptions in the dystrophin gene which seem to cause DMD. Western blotting techniques have been used to identify
nonsense mutations on the dystrophin gene (Bulman et al. 458). Polymerase chain sequencing has been used to find a mutation in exon 26 (Bulman et
al. 458). Southern analysis revealed that another gene problem which leads to DMD is a premature chain termination, which results in a truncated
dystrophin protein (Clemens et al. 1781). These are all mutations found in patients with DMD, which shows that there are various ways the dystrophin
gene can be affected. Each of these mutations cause a problem in that they do not function correctly when coding for the protein dystrophin.
The malfunction of the protein dystrophin is responsible for the symptoms of DMD. If the dystrophin gene functions correctly, the normal allele codes
for the production of the protein dystrophin ("NCBI"). This is a high molecular weight protein, and it is in .002% of the total proteins. Normally, the
dystrophin protein functions inside muscle cells, providing structural support. It anchors parts of the internal

Duchenne Muscular Dystrophy is one of the most severe yet common cases of Muscular Dystrophy that occurs mainly in boys of younger age.
Guillaume Benjamin Amand Duchenne, who was a French neurologist, was the first to discover this disorder in the 1860s (Emery, 2008, pp. 25). This
disease is an X–linked disorder which affects the skeletal system, and causes rapid muscular weakness and heart muscle problems. It's stated that 1 out
of every 3,600 males will be diagnosed with Duchenne Muscular Dystrophy (Bushby, 2009, pp.1). According to the Muscular Dystrophy Association,
symptoms usually begin to show between the ages of 3 to 5 years old. (pp. 1) Some of the symptoms may include delayed in walking, regularly falling,
learning difficulties, ... Show more content on Helpwriting.net ...
Like what I previously mentioned the symptoms of Duchenne Muscular Dystrophy begin to arise in the age range of 5 and may include inability use
motor skills for instance, running or jumping, speaking skills delayed, weakness on the hips and thighs, and intellectual disability (Haldeman–Englert,
2014, pp. 1–2). A physical characteristic that can be detected from a parent of a child who has Duchenne Muscular Dystrophy is the enlargement of
the calve muscles (Emery, 2008, pp. 27).This is a disease that rapidly affects the person who has it. Using a wheelchair by the time the patient is an
adolescent is very common in this form of Muscular Dystrophy. Unlike Duchenne, Becker Muscular Dystrophy symptoms are known to be milder and
often are not even diagnosed with it until later on in the person's childhood. Although when the symptoms do arise they may consist of muscle cramps,
mild skeletal muscle involvement, and cardiac problems. Depending on the case the patient may need a wheelchair as a way get around while others
use canes (Genetics Home

The Drug Approval Of The Disease Essay
There are over 7,000 rare diseases affecting between 25 and 30 million Americans (Global Genes 2016). A disease or disorder is defined as rare in the
U.S when it affects fewer than 200,000 Americans at any given time (Eurordis 2016). Some of these rare diseases come with even more rare and
controversial decisions. "The FDA just made its most controversial drug approval of the year" (Fortune 2016). This injectable drug is called eteplirsen
by Sarepta Therapeutics and it is an exon–skipping drug targeting a section of genetic code called "exon 51" in the dystrophin gene. Exon skipping is
a type of strategy that is being developed for the rare disease DMD (Duchenne Muscular Dystrophy). The exon–skipping process skips sections of
genetic codes during protein manufacturing, allowing cells to create shortened but partially functional dystrophin protein which is the muscle protein
that is missing in DMD. This rare X–linked disease was first described in the 1850's by French neurologists Guillaume Duchenne but was not known to
inhibit the production of protein dystrophin and result in the loss of motor functions and muscular degeneration until the 1980's (MDA 2016). 1 in
3600–6000 live male births has resulted in DMD (Bushby 2010). Most patients are diagnosed around 5 years of age when their physical abilities are
no longer similar to their peers (Bushby 2010). If left untreated, signs of deterioration in muscle strength increase, the chance of using a wheelchair
before their teens

I Am A University At Grove City High School
About the Author (Part I (A–D))
Hello, my name is Rae–Kelly Hamilton! I am a rising senior attending Grove City High School, where I'm a member of the graduating class of 2016.
I hope to attend a prestigious university, preferably a military Service Academy, Johns Hopkins University, or Washington and Lee University. I also
hope to play collegiate volleyball while studying either a hard science or engineering while on a pre–med track. Outside the classroom, I enjoy
volunteering, reading, and hanging out with friends. One day, my dream is to be a military doctor with expertise in cardiology.
My particular interest in Duchenne Muscular Dystrophy (DMD) was sparked when I met a little boy while on vacation who is a DMD patient.
Thesis (Part II (A–B))
New parents often bask in the enjoyment of their young children as they lovingly watch the days pass as their life story is written. Though a great
amount of parents are lucky enough to avoid an encounter with illness threatening to steal their child's life, many can only hope that their child will
not be the single male child of every 3,500 to be afflicted by DMD (Peterlin , 2014). Too many boys–somewhere between 400 and 600 annually–will
be born with DMD and its sister illness Becker Muscular Dystrophy in the United States alone (Duchenne and Becker muscular dystrophy, 2015). The
symptoms associated with this devastating disease generally render the child wheelchair bound by adolescence and fighting a life expectancy of only 18

Muscle Contraction Research Paper
Emily Branstetter
Skeletal muscle contractions play a pivotal role in our day–to–day lives. Their main function is to generate force and provide our bodies with structural
integrity. For many of us, muscle contractions seem effortless, but there's actually quite a bit going on under the surface. Our muscles are composed of
sarcomeres, units of skeletal muscle fibers, which are made up of actin and myosin contractile filaments. These filaments need to bind to each other in
order to lengthen and shorten the sarcomere. However, the binding sites for actin and myosin are blocked by troponin and tropomyosin proteins. In
order to get them off of the binding sites, calcium needs to bind to the troponin, which then lifts ... Show more content on Helpwriting.net ...
Being one of the proteins that initiates the unbinding of actin and myosin, its location allows for easy access to bind to and change the shape of actin.
As dystrophin and actin bind, force is transmitted from within the sarcomere to the extracellular space and surrounding muscle cells. When dystrophin
function is inhibited, it won't bind to actin and the cross bridge cycle is interrupted; meaning no contractions.
Lastly, because of the flimsy membrane, myo–enzymes and calcium can leak out which has the potential to decrease the function of the cell. The lack
of integrity of the membrane also allows particles to leak into the cell causing a concentration gradient. This gradient will draw water toward the area
to dilute it and with time leads to the bursting of the muscle cell.
Most common symptoms of DMD are muscle weakness and muscle loss progressing from the legs to the arms, and the condition deteriorates over
an extended period of time. This leads to difficulties standing and walking and results in required use of wheelchairs, often by the age of 12 or so. It
is not uncommon for someone with DMD to appear as if they actually have a large muscle mass, but this is simply due to the buildup of fat content
and the fact that muscle fibers are being replaced by fat

The Genetics Of Duchenne Muscular Dystrophy
The Genetics of Duchenne Muscular Dystrophy
Duchenne muscular dystrophy is the most common genetic disease fatal in children, it is a severe and rapidly progressive muscle disease with
symptoms that first become evident due to the affected child showing early motor developmental delay; for example, presentation of Gower's sign, a
diagnostic indicator of proximal muscle weakness characterised by the affected having to "walk" their hands up their body to stand due to little strength
being present in the lower limb.
By thirteen years of age the proximal muscle weakness is so advanced that the affected will be wheelchair dependent, and as involuntary muscles
(cardiac and respiratory) grow more affected towards the age of eighteen, cardiomyopathy and respiratory diseases are common and often cause death,
with very few survivors past the age of thirty and the average lifespan at twenty–five.
The cause of Duchenne Muscular Dystrophy is the occurrence of mutations in the Dystrophin (DMD) gene. The cytogenetic location off the DMD
gene is Xp21.2; meaning at location 21.2 on the short arm of the X chromosome from base pair 31,119,219 to base pair 33,339,609. DMD is the
biggest human gene currently known and instructs for the production of a 427 kDa protein by the same name. The dystrophin protein is part of the
dystrophin associated protein complex which is expressed at the sarcolema and anchors muscle cellcytoskeletons to the extracellular matrix in skeletal
and cardiac muscle,

Dmd Research Paper
How is DMD diagnosed?
Symptoms
There are often difficulties with diagnosis in DMD because the symptoms may vary and where there is no family history DMD may not at first be
suspected. It is quite common to see a delayed walking age with first steps being taken at around eighteen months. Once a boy with DMD is walking
he may fall readily. He often has difficulty climbing (stairs for example), difficulty running and jumping, and he may develop a 'waddling' gait.
Classic symptoms include enlargement (hypertrophy) of the calf muscles, which occurs in about 90% of cases. He may develop a tendency to walk
on his toes and this is often accompanied by a protruding abdomen and sway–backed stance, called 'lordosis'. He may experience difficulty getting up
from the floor without help, he may use his hands to climb up his legs for support – this is referred to as 'Gowers sign'. These symptoms generally
begin to ... Show more content on Helpwriting.net ...
Firstly, it will allow other family members to be tested to determine the risk of passing the condition on to future children. Secondly, much of the
current research into treatments is focusing on therapies that are specific for a particular mutation so a genetic diagnosis will determine whether a boy
can participate in a clinical trial or eventually be prescribed a particular medication should it prove to be an effective therapy.
Muscle biopsy
On very rare occasions when DNA studies do not present a clear picture a muscle biopsy may be required. A small piece of muscle tissue is taken
with a needle, usually from the thigh. Using special staining techniques in the laboratory the muscle tissue is examined microscopically for dystrophin
protein. In DMD, dystrophin is completely absent while in the related disorder Becker muscular dystrophy some dystrophin is present. Therefore, the
muscle biopsy test is important in providing a definite diagnosis when DNA tests are inconclusive.
How is DMD

Dystrophin Analysis
Dystrophin is encoded by the largest known human gene Dmd, which spans about 2.4 Mb of Xp21 and is composed of 79 exons (Den Dunnen et al.,
1989; Koenig et al., 1987). Alternative promoters and splicing produce tissue–specific isoforms of dystrophin, including the full length Dp427 in
skeletal and cardiac muscles, Dp260 in retina, Dp140 in brain and kidney, Dp116 in peripheral nerves, and ubiquitous Dp71 (Muntoni et al., 2003).
Although predominant in skeletal and cardiac muscles, Dp427 also expresses in testes (t Hoen et al., 2008). Dystrophin is a rod–shaped cytoskeletal
protein linking extracellular laminin and intracellular F–actin in muscles to mediate force transmission as well as signaling transduction (Brenman et
al., 1995; Ervasti and Campbell, 1993; Koenig et al., 1988). Apart from the mechanical role, dystrophin also regulates asymmetric division of satellite
cells by regulating the polarity of a microtubule kinase MARK2 (Dumont et al., 2015). ... Show more content on Helpwriting.net ...
Like dystrophin, utrophin contains N–terminal actin–binding domain and C–terminal dystroglycan–biding domain (Tinsley et al., 1992). The nucleic
acids and amino acids of Utrophin respectively share 65% and 80% identity with dystrophin (Love et al., 1989). Utrophin expresses ubiquitously in
many fetal and adult tissues, including liver, spleen, skeletal muscle and testis (Love et al., 1991). Utrophin localizes in the neuromuscular junction of
adult skeletal muscles, whereas it relocalizes to the sarcolemma in regenerating muscle fibers (Amenta et al., 2011; Ohlendieck et al., 1991).
Sarcolemmal recruitment and upregulation of utrophin in the skeletal muscle of the mdx, the most common animal model of DMD with a nonsense
mutation in exon 23, imply the compensatory role of utrophin for the loss of dystrophin (Amenta et al., 2011; Banks et al., 2014; Bulfield et al.,

Muscular Dystrophy Paper
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

The Muscular Dystrophy Was First Discovered By Guillaume...
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. Females are carriers in their X–Chromosome and they have the chance of passing the disease on to their children, 50–50 to a girl and
50–50 to a boy. If the girl does receive the gene she becomes a carrier. If the boy gets the gene then he has the disease. Males do not pass on the gene to
their children because they pass on the Y–chromosome and the disease is X specific. Some female carriers have indicators of being a carrier by
having symptoms of cardiomyopathy, shortness of breath during exercise, and muscle weakness in the back, arms, and legs. There have been very
rare instances where a girl has not received a

Research Paper On Duchenne Muscular Dystrophy
Duchenne Muscular Dystrophy (DMD) is a fatal genetic disorder that is caused by mutations in the gene DMD, which encodes the muscle protein,
dystrophin. Dystrophin protein is crucial to preserve the strength, stability, and flexibility of muscle fibers, which protects them from injury as they
contract and relax. The DMD gene is primarily located in skeletal and cardiac muscle. Duchenne Muscular Dystrophy is caused by mutations in the gene
that produce premature stop codons. The premature stop codons work to bring protein synthesis to a halt, resulting in a greatly shortened and
nonfunctional form of dystrophin (Pierce, 2013, pg. 286). According to the Muscular Dystrophy Association (2016), "Individuals with DMD
experience rapid progressive ... Show more content on Helpwriting.net ...
Most individuals with Duchenne Muscular Dystrophy have a deletion or duplication mutation. These mutations eliminate dystrophin function by
interrupting the reading frame or by producing a premature stop codon. Scheuerbrandt (2013) explains if the mutation alters the reading frame by one
or two nucleotides, then a whole thread of incorrect amino acids is incorporated beginning at the mutation site until a premature stop codon is reached,
which will then prematurely terminate the translation. Therefore, the incomplete dystrophin cannot fulfill its normal function and Duchenne Muscular
Dystrophy

Muscular System Essay
What are the critical functions of the skeletomuscular systems? How are they essential for life?
Skeletomuscular system provides support and movement. It also stores calcium in our body. In addition, the basic concept underlying of
skeletomuscular are protein structure and function.
How do the skeleton and skeletal muscle work together to allow movement?
The skeleton and skeletal muscles are interconnected that the outer covering on most skeletal muscles is continuous with the outer covering of the bone
they are attached to. Skeleton and skeletal muscle work together to perform several function key; to provide movement and locomotion, manipulate the
environment. These systems also protect the organ in the thoracic and abdominopelvic cavities, ... Show more content on Helpwriting.net ...
National Library of Medicine, 2013).
How does it affect skeletal muscle function?
The muscles fiber membrane contains a group of proteins–the dystrophin–glycoprotein complex that prohibits harm as muscle fibers contract and relax.
When this protective membrane is damaged, muscles fibers begins to leak the protein creatine kinase and take on excess calcium, which causes further
harm.
Does DMD affect boys and girls equally? If not, who are primarily affected and why?
Because DMD is an inherited in X–linked recessive pattern, and males only have one copy of the X– chromosome, not like female that two copies of x
chromosome, if one copy does not work there is another one to produce dystrophin. "With an X–linked recessive condition, the chance of passing on
the change (non–working) copy of the gene to a child is different for males and females" (National Human Genome Research Institute, 2013).
What is SMA? What gene is mutated?
According to Muscular Dystrophy Association (MDA), Spinal Muscular Atrophy (SMA)is define as the loss of nerve cells in the spinal cord called
motor neurons. SMN1 genes on chromosome 5 cause the defect in that form in SMA

Duchenne Muscular Dystrophy Research Paper
Duchenne Muscular Dystrophy is diagnosed from many symptoms in many ways. Since the disorder is most likely going to be inherited, doctors
will look at the medical history of the family. Once the background of family history is done, a physical examination of the patient will occur. The
examinations are done in various ways. One of the first examinations that physicians do would be the CK ( creatine kinase) level blood test. Creatine
Kinase is an enzyme that disclosures out damaging muscles. "The normal upper limit of serum CK is 200 units/L; in patients with DMD, levels are
5,000 to 15,000 units/L" (Sussman, 2002). If the results of the CK blood test come back high this concludes that the muscles have damaging occurring
causing the

The Relationship Between Duchenne Muscular Dystrophy ( Dmd )
The ability to walk is something that our society seems to take for granted. A neuromuscular disease can take that ability away instantly. As with any
neuromuscular disease, the body's muscles are specifically attacked. Normally that attack is caused by a lack or mutation of a specific gene. Duchenne
Muscular Dystrophy (DMD) has a direct relationship with a lack of dystrophin synthesis. It is possible that the dystrophin synthesis can be increased by
manipulation of microRNA–31. 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. Due to the genetic attributions of DMD, there are specific demographics affected
normally. DMD

Duchenne Muscular Dystrophy Case Study
Duchenne Muscular Dystrophy (DMD) is a lethal genetic X–linked disease results from the mutation in the reading frame of the dystrophin protein,
and it affects mostly boys in their muscle and cardiopulmonary function. Although there are no effective treatments to cure DMD patients right now,
scientists consistently explore more methods to come up with the practical treatments. One of the most popular and valid approaches is a gene–editing
therapeutic method – CRISPR/Cas9 Genome Editing. It adapts from the natural systems in bacteria, and it can generate targeted gene modifications to
target specific DNA sequence. Then it introduces shifts within exons to restore the reading frame, so it can express a partial functional dystrophin
protein. ... Show more content on Helpwriting.net ...
Secondly, although both studies use CRISPR–Cas9 as an agent to treat the DMD genetic disease, the principle of the mechanism is different. Young et
al. used the normal bacterial protein Cas9 as a source to modify DMD; however, Lee et al. developed non–viral Cas9 to induce HDR. The two methods
obviously would have two different outcomes. Hence, the third difference between them was the phenotype expressed after the treatment. Yong et al.
can restore a functional dystrophin protein by reframing the gene, but the method could only reduce a phenotype similar to Becker Muscular Dystrophy
(BMD) phenotype. Lee et al. corrected the dystrophin mutation, including point mutation and small deletions, too their wild–type sequence, which
could regenerate fully functional wild–type dystrophin.
The advantage of both studies is that both method have tested on in vivo and in vitro, which allows the future studies to work on the development of
ex vivo gene correction so that a better treatment for DMD could be generated. However, both studies still have some defects relatively. For example,
the protocol of the Yong et al. study was unclear, which is significant for DMD patient as the misleading protocol could be fetal to the patients.
Although Lee et al. mentioned that CRISPR–Gold did not cause any inflammation or weight loss after multiple injection, it was not sufficient to
suggest that the

Dystrophin-Glycoprotein Research Paper
Figure 1: This figure shows the dystrophin–glycoprotein complex network. What's shown in red makes up the core dystrophin–glycoprotein complex
and are not found as abundantly in dystrophin deficient muscle. What's shown in blue are proteins that are more abundant when there are low
dystrophin levels. The white shows structural proteins that directly interact with the dystrophin–glycoprotein complex. (16) Muscle tissues will weaken
progressively and can eventually this disease usually leaves victims wheelchair bound at around 16 years old. It affects the lower limbs of the body
first. Then it will begin to affect more important muscles such as the heart. (1) It deteriorates muscles at a much quicker rate than other muscular
dystrophies like Becker's, which are also caused by the DMD gene. (3). Having Duchenne Muscular Dystrophy will result in death. Symptoms will
usually appear before the age of 6, and people who develop it will usually die around the age of 20. (1)
Alleles and Allelic Variants: The wild–type and mutant alleles of this gene ... Show more content on Helpwriting.net ...
In a paper written by Boyce, et al., they found that having a specific deletion of the muscle promoter for dystrophin caused a case of Becker's
Muscular Dystrophy. Becker's Muscular Dystrophy means that the deletion of the muscle promoter reduced the production of dystrophin, but not to the
extreme amount that causes Duchenne Muscular Dystrophy. (12) The severity does vary from allele to allele. There are three different phenotypes
that these alleles can cause. The most severe of these phenotypes is Duchenne Muscular Dystrophy. Duchenne Muscular Dystrophy is also the most
common of the three phenotypes. The second most severe of these phenotypes is Becker's Muscular Dystrophy. The least severe of these three
phenotypes is Cardiomyopathy. (2) Although it is the least severe of the three, it still has a 20% mortality rate at 1 year and it rises to 80% at around
eight years.

Muscular Dystrophy Paper
Muscular dystrophy is a group pf chronic diseases that is caused by degeneration of skeletal muscles over time. It is caused by a mutated gene can
affect people of all ages (Prince, 2012). It has different types which are Duchenne, Becker, limb–girdle, congenital, facioscapulohumeral, myotonic,
oculopharyngeal, distal, and Emery–Dreifuss dystrophies. This paper will focus on Duchene Musclar Dystrophy (DMD) which is the most common
form of muscular dystrophy. The purpose of this paper is to show how respiration is affected by Duchene muscular dystrophy and how it can be treated.
Pathophysiology
Duchenne muscular dystrophy (DMD) is caused by a mutated gene in the X chromosome. This flawed genes is passed on by the mother. However,
most carrier of the gene do not show signs or symptoms of the disease. The The flawed gene causes the improper production of the protein dystrophin
which is accompanied by "defective dystrophin–glycoprotein complex (DGC) in the sarcolemma and leads to progressive muscle degeneration"
(Nakamura & Takeda, 2011). The Dystrophin protein is vital in providing a muscle integrity. Therefore, the absence of dystrophin production can lead
to muscled atrophy.
Signs and Symptoms ... Show more content on Helpwriting.net ...
Children who have DMD have mobility problems and are usually wheel chair dependent between ages 4 to 10. Overtime, the loss of dystrophy can
lead to cardiomyopathy due the degeneration of the heart muscle. Muscles on the lungs and diaphragm can also weaken which can lead to poor
respiratory health. This can lead to "shallow and labored breathing and a build–up of mucus and bacteria. As a result, children with DMD are prone to
severe chest infections" (Pearce, 2012). The decrease of oxygen in the blood can affect sleep and can lead to difficulty in concentrating and staying

A Study On Duchenne Muscular Dystrophy
1.0Abstract
Duchenne Muscular Dystrophy is a degenerative X–linked recessive disorder usually resulting in death in the late third decade. Mutation of Dystrophin
gene at Xp21 disrupts the mRNA reading frame resulting in absent dystrophin protein in muscle cells. Currently no therapy can counteract the disease
effectively. Exon skipping with oligonucleotide administration restores the reading frame of the mRNA to produce truncated but functional dystrophin
and requires repeated administration which can cause drug accumulation toxicity. Mesoangioblast Stem Cell therapy has shown safety but limited
efficacy due to problems of migration and engraftment in patient skeletal muscles. The approach of Cell Mediated Exon Skipping in this project will
aim to draw from the strengths of previous strategies while reducing their individual limitations.
A lentiviral vector expressing small nuclear RNA (snRNA), which can cause permanent skipping of exon 51, was delivered to patient fibroblasts and
myoblasts. The snRNA from one corrected nucleus was expected to spread to surrounding uncorrected nuclei. Corrected cells were tested against a
control of healthy human muscle biopsy tissue, using Immunofluorescence and PCR for Dystrophin. The hypothesis of neighbouring nuclei correction
was tested by Quantitative PCR comparing expression of Dystrophin with a reporter gene, Green Fluorescent Protein, in cultures of corrected and
uncorrected cells at relative ratio of 1:10 and 1:50.

Duchenne Muscular Dystrophy (DMD)

Recommended

Recommended

More Related Content

More from Rebecca Evans

More from Rebecca Evans (10)

Recently uploaded

Recently uploaded (20)

Duchenne Muscular Dystrophy (DMD)