Becker Muscular Dystrophy (BMD)

Becker Muscular Dystrophy (BMD)
Becker muscular dystrophy (BMD) is an x–linked recessive inherited disorder characterized by
slowly progressive muscle weakness of legs and pelvis. This disease primarily effects voluntary
muscles such as muscles of the hips, pelvic area, thighs and shoulders. Since this disease effects all
your muscles they'd weaken your heart as well. Most people with BMD often develop
cardiomyopathy ( disease in the heart muscle).
The heart muscle deteriorates like the skeletal and smooth muscles which would make it difficult to
walk, people with BMD might waddle a little they may walk on their toes or stick out their
abdomen. Symptoms for BMD usually begins with the hips and the pelvic area muscles start to
weaken which causes people who suffer from this
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Essay On Muscular Dystrophy
Muscular Dystrophy (MD) is a disease that can be defined as a group of genetic traits that includes
deteriorating by the voluntary muscular and/or skeletal movements. Other organs such as the heart
are another example of an involuntary muscle that can easily be affected by the disease. Muscular
Dystrophy can effect anyone – child or infant, and even middle age to older adults. The overall
severity of the disease depends on when it decides to show up. Some factors are simply the age of
the individual, the current condition or strength of their muscles, how fast the disease progresses,
and as well genes. Most do are not fully aware of the severity of the disease, nor do they know that
there are nine different types out there. Some types of Muscular Dystrophy affect males. ... Show
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All 30 of these forms are separated into a total of 8 different categories. Let's start with Duchenne
Muscular Dystrophy. This is the most common of all types in children. Duchenne Muscular
Dystrophy mostly affects boys. It is very rare for a girl to develop this version of the disease.
Symptoms of this disease include: trouble walking, poor posture, loss of reflexes, bone thinning,
mental impairment, swallowing issues, heart and lung weakness, and more. When affected with
Duchenne Muscular Dystrophy, more times than none a wheelchair is required before teenage years.
Generally speaking, there is no cure for Duchenne Muscular Dystrophy. However, there are therapy
treatments and medicines that can protect the muscles, as well keep their lungs and heart healthy.
For example, with Duchenne, one may have a walking impairment but taking a steroid such as
prednisone can sedate the speed of damage being done to the muscles. Those children who take this
steroid are typically able to walk for 2–5 years longer than those who do not take it. Duchenne
Muscular Dystrophy affects the cardiovascular system the most, so they should see a

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

Research Paper On Muscular Dystrophy
Muscular Dystrophy also known as MD, is known in many forms. Between those many
forms, the symptoms and signs change. All together there are a total of nine different types of
muscular dystrophies. These can either be born with or you can have the gene for it or not show
up till later in life. Muscular Dystrophy has many different types of forms and how they can
either be "cured" or slowed down and how doctors can and cannot tell which muscular dystrophy
is which by just the signs and symptoms that the patient has and how they diagnose someone
with muscular dystrophy.
With the very many types of muscular dystrophy, it is relatively challenging to diagnose
a specific one. Some of the more common types are: Congenital Muscular Dystrophy ... Show more
content on Helpwriting.net ...
We say "normal" as a meaning of
a human who does not have any form of a muscular dystrophy whether they are a carrier or not.
7 Joiner
And which a carrier means that they do not physically have it but they have a gene for it.
"Limb–girdle muscular dystrophies (LGMD) are a group of rare progressive genetic disorders
that are characterized by wasting (atrophy) and weakness of the voluntary muscles of the hip and
shoulder areas (limb–girdle area)." (National Organization for Rare Disorders). Genetic disorders
means that the patient has something wrong within their DNA. With it being the DNA sequence,
it might or might not be a challenging cure or not. "LGMD is a genetic disorder that is inherited

as either an autosomal recessive or dominant trait." (National Organization for Rare Disorders).
Which dominant means that it will show up in the offspring if one of the parents supplies that
gene. Recessive means that it might or might not show up, it depends if there is a dominant of
that gene supplied or not. If there is no dominant gene showing up, then they will show through
the genes. If there is a dominant gene that shows up, then the recessive will not show up but

Muscular Dystrophy Research Paper
What is Muscular Dystrophy?
A neuromuscular disease that causes damages to the muscles over time is called muscular dystrophy.
This disease is genetically passed down from generation to generation. The cause of the muscle
weakness is a lack of protein called dystrophin. This is how they named it muscular dystrophy. This
protein causes a numerous of problems for people who have this disease. The disease is only in
males, especially the younger male. There are a lot of types of muscular dystrophy. The most
common ones are Duchenne, Becker, and Congenital to name a few. Causes, the different types,
symptoms, the treatment will all be explained more in depth on the disease more into the paper, so
you can get a better understanding of the medical ... Show more content on Helpwriting.net ...
The doctor may do testing to the patient for further research. One test would be a blood test for
creatine kinase, this blood level would be highly elevated. (Jama Network, Vol 306). A muscle
biopsy is also performed by taking small samples of muscle. Muscle ultrasound or electromyogram
all are imaging techniques to view the muscles. Blood test for genetic mutation is also performed on
the patient. Enzyme testing is performed as well to view released damaged muscles. A genetic
analysis test could be performed as

Muscular Dystrophy Essay
"Dystrophy," originally coming from the Greek "dys," which means "difficult" or "faulty, and
"trophe," meaning "nourishment" holds the interpretation "poor nutrition." Today we know poor
nutrition is not the cause of Muscular Dystrophy ("Myotonic Dystrophy"). Muscular Dystrophy is a
genetic disorder that affects between 500–600 newborns each year in the US (Statistics on Muscular
Dystrophy). In general, this disorder weakens your skeletal muscles, and eventually they degenerate.
Muscular Dystrophy also has several specific types within the disorder, such as: Duchenne Muscular
Dystrophy, Becker Muscular Dystrophy, and Myotonic Dystrophy. Each one has their own specific
characteristics. Muscular Dystrophy is a genetic disorder in which ... Show more content on
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Myotonic Dystrophy, or Myotonia, is the delayed relaxation of a muscle after it has been contracted.
For example a person may not be able to release their grip on a doorknob or handle. Myotonia,
unlike Duchenne and Becker's Muscular Dystrophy, affects the upper body. More specifically, the
hands, face, neck, and forearms. Myotonia also affects feet as well. Myotonia doesn't actually show
up until approximately nineteen years of age, and luckily it does not shorten a person's lifespan
("Myotonic Dystrophy"). Myotonic Dystrophy doesn't have a very lengthy history, but a lot was
discovered over the years. In 1876, Thomsen described Myotonia having patterns similar to
Myotonia Congenita. Also in 1886, Eulenburg came to the conclusion it was also like Paramyotonia
Congenita. Myotonia was also described Steinert in 1909, and he called it Myotonia Atrophica. One
of the most breakthrough discoveries dealing with Myotonic Dystrophy occurred in 1941, when
Denny–Brown and Nevin concluded that this disorder affects muscles not nerves. The genetic basis
of the disease was discovered in 1992 (Myotonic Dystrophy. Yale Univ.) Myotonia produces a very
wide variety of symptoms. Symptoms include: baldness at the front and back of the head,
malfunction of the ovaries and testes, facial weakness, drooping eyelids, impaired swallowing and
eye movement, cataracts in the eyes may develop, loss of coordination, and heart rates can be
abnormally slowed. Also muscles of the stomach could

Informative Speech On Muscular Dystrophy
I. Intro:
Attention Getter: Nowadays, with the development of the technology in the medical industry, human
health condition is getting better. There are so many different medicine, vitamin are used for
improving the human immunes systems to fight against diseases. But there are still some dangerous
disease that can not be cured yet and Muscular Dystrophy Disease is one of them.
Topic Revelation: And today, I will be talking about the Muscular Dystrophy Disease. The term
"Dys–" means abnormal and "Trophy–" means Growth. So Muscular Dystrophy means abnormal
Growth of a muscle.
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, ...
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There are some different types of the disease which affect on different area of the body. For some
patients, the disease may appears on their early childhood ages while other patients might not show
anything until their late teenager and early adult ages.
B. Common types of Muscular Dystrophy.
1. Duchenne Muscular Dystrophy o It was named after a French Neurologist Guillaume Benjamin
Amand Duchenne in 1860s) o Arms, legs, shoulders, torsos – Between ages of 2 to 6. o According to
the " Muscle Diseases" by Patrick F.Chinnery in the Goldman's Cecil Medicine, 24th Ed 2012,
"Duchenne Muscular Dystrophy affects about 1 in 3500 males. About one third of the cases arises
from a de novo mutation without a family history."
2. Becker Muscular Dystrophy o It was named after a Germany Doctor Peter Emil Becker in1950s o
Similar to Duchenne Muscular Dystrophy o Arms, legs, shoulders, torsos – Between ages of 2 to 16
and late 25.
3. Myotonic Muscular Dystrophy o It is also called Steiner Disease (named after a Germany Doctor
Steiner in 1909) o Organ system, Nervous system, Heart, Eyes ...
4. Congenital Muscular

Muscular Dystrophy Muscular dystrophy or MD, a disease that causes progressive weakness in
muscles. This occurs when a mutation that alters the production of proteins that the muscles need.
MD is more common in boys, and in most cases, symptoms begin in childhood, but could not appear
until later in life, depending on the type of MD. As of now, there is no known cure for MD but, there
are treatments to slow the progression of the disease.
One major sign of MD is muscle weakness. There are many impacts on life for people who have
MD, from an early age, they might have trouble walking, running and jumping, and may need a
wheelchair along with swallowing problems, if those muscles are altered by the disease. They can
possibly have heart

Muscular dystrophy (MD) is a genetic neuromuscular disease of various types that all result in the
degeneration of muscle issue. The disease manifests in several types that vary by muscular region
and dystrophin levels in the body. Most patients with a form of MD will suffer joint and muscle
pain, pressure sores, and postural stress due to their condition. Potential clients with this disease will
most likely be young boys, as MD mainly affects the male population and shortens one's life
expectancy to mid–20's. Clients who suffer MD will likely either require assistance getting onto a
massage table or would be better served through chair massage. The type of massage the client will
receive will then be contraindicated depending on fragile muscles, contractures, and medications. ...
In most cases it is an X–linked genetic disorder that is carried by the mother but only manifesting in
sons. It is caused by a mutated gene and results in low levels of dystrophin. Whereas normal
muscles have dystrophin to help keep their shape and strength, those who suffer from MD tend to
lack proper levels of this protein or will not be able to produce it at all. According to the Muscular
Dystrophy Association, there are nine types of DM, with the two most common types being
Duchenne and Becker. The symptoms of each type tend to differ, but Duchenne and Becker have
similar signs: muscle weakness in the extremities, difficulty walking, lordotic posture, and enlarged
calf muscles. The most easily recognizable sign of MD is a "toe gait," which is characterized by the
patient walking on his/her toes and walking with an abnormal forward curvature of the spine in the
lumbar region. This gait is the result of the lower leg muscles compensating for upper leg muscles
that no longer function, and the lordotic posture is due to a tilted pelvis caused by weakened muscles
around the

What is Muscular Dystrophy, or MD for short. Muscular Dystrophy is a hereditary disease that
effects the muscles which controls movement weaken overtime, and in some cases will affect the
heart and other organs. Symptoms can show up in those as young as infants and can stay in those in
the middle ages or older. There are nine major forms of MD including: Myotonic, Duchenne,
Becker, Limb–girdle, Facioscapulohumeral, Congenital, Oculopharyngeal, Distal, Emery–Dreifuss.
The form and severity vary by the age that MD occurs. Some types of MD will affect mostly males,
while some people with MD will enjoy a slow progression with mild symptoms, but on the
otherhand, others will experience swift and severe weakening, dying in their late teens and early
20's. More than 50,000 Americans are affected by various types of MD. ... Show more content on
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It is caused by a defective gene for dystrophin, which is a protein in muscles. Often, people with
unknown family history of the condition find that they have MD symptoms. Boys are affected by
the disease not girls. Sons of female carriers have a 50–50 chance of the disease whereas daughters
have a 50–50 chance of being carriers. One out of every 3,600 male infants have
Pseudohypertrophic MD. Because of it being an inherited disease, the risks included are a family
history of Duchenne

A Study On Duchenne Muscular Dystrophy
1.0 Abstract
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.

What Is Muscular Dystrophy?
Muscular Dystrophy When people hear about diseases most of them don't understand what exactly
causes the disease in the first place, or even how widespread it could be. So they go about their days
ignoring the disease all together. Such as the case for Muscular Dystrophy (MD). According to the
Center for Disease Control (CDC) Muscular Dystrophy in its more predominant forms affects 1 in
every 5,000 males. The two most common forms of Muscular Dystrophy, Duchenne and Becker
(DBMD), affects 1 in every 7,250 males aged 5 – 24 years (CDC, 2017). Muscular Dystrophy has
been shown to affect males more so than females. It has also been shown that DBMD among Non–
Hispanic blacks were lower than Hispanics and Non–Hispanic whites. (CDC). In 2009 ... Show
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The only thing available to patients are treatments to try and slow down the process of muscle
degradation. There are only two current types of treatments available for patients, drugs and
physical therapy. The two most common types of drugs given are corticosteroids and heart
medications. Corticosteroids can help increase muscle strength and slow progression, although their
long–term use can weaken bones and increase weight gain. Now if the muscular dystrophy impacts
the heart, beta blockers and angiotensin–converting enzyme (ACE) inhibitors may be useful. Now
there are four different types of physical therapy that may help out, the first one is just general
exercise because it helps keep the limbs limber and in motion for longer than if you weren't to
exercise. Now if your muscles weaken to the point where it becomes hard to breath, then a breathing
assistant will be given to help ease the flow of air that you produce. When MD has reached its
advanced stages, then braces and mobility aids are given to keep you moving and to stretch your
muscles and tendons as to slow down the process of weakening muscles. (MNT) The two most
effective ways of treating MD were the corticosteroids and also general exercise. Since the
corticosteroids in the long run cause you to gain weight, the general exercise helps keep that in
check along with keeping you active. Unfortunately with these treatments it does not stop MD from

"If it came to a magic genie, I would ask him for two extra wishes. One would be that no one would
have to live with the muscular dystrophy disease or any disease," –Mattie Stepanek. Mattie was just
one of the many unfortunate children diagnosed with a muscular dystrophy. The most severe of
them all is Duchenne Muscular Dystrophy also known as DMD. Duchenne Muscular Dystrophy is
caused by a defect or a mutation in the DMD gene located in the X chromosome. This gene provides
instruction for a protein that helps muscle tissue repair itself known as dystrophin. The absence of
this protein is thought to be the cause of all types of muscular dystrophy. The genetic explanation of
the defective gene is simple: males have one X and one Y chromosome and females have two X
chromosomes, so when a female inherits the mutated gene she has another unchanged X
chromosome make her asymptomatic or showing no symptoms or evidence of a disease or disorder.
A female with one mutated and one normal gene is labeled a carrier and each child of hers born has
a one in two chance of inheriting the gene. On the other hand, males have no extra X chromosome,
so they have no protection against the symptoms. Because of these conditions, DMD is classified as
an X–linked disorder and this is why DMD only affects boys. Duchenne Muscular Dystrophy shows
its first symptoms in a boy's early childhood, usually in preschool. The weaknesses of the skeletal
and muscular systems start in the pelvis and progress

Muscular Dystrophy And Related Diseases
Muscular Dystrophy in Pediatric Patients
A muscular dystrophy is a group of diseases that is associated with progressive weakness and loss of
an individual's muscle mass. The condition causes the abnormal genes to interfere with the
production of proteins needed to form healthy muscles. There is no medical cure for muscular
dystrophy and related diseases, but strategies such as medication and therapy are used to manage the
symptoms and slow the course of the disease. There are more than 30 types of muscular dystrophy,
and the difference is based on the genes that cause it, the age when the symptoms appear first, how
quickly the disease progresses and the muscles it affects (Tecklin, 2015).
Duchenne muscular dystrophy (DMD) and Becker ... Show more content on Helpwriting.net ...
A wider base of support along with ITB contractures is commonly associated with the disease.
Functional activities may still be conserve until the age of 6 or 7, by the age of 9–10 a rapidly
decline of functional activities is observable. On the other hand Becker muscular dystrophy is the
mildest version of the muscular conditions, individuals can maintain independent ambulation until
the age of 16. Etiology for BMD its very similar to DDM, however dystrophin production its
sufficient with good quantity and quality which will allow the breakdown to occur at slower rate
than DDM. Symptoms for BMD its usually present between the age of 5 and 15, however the onset
is variable, patients usually live until their fourth decade (Tecklin, 2015). Other clinical presentation
associated with both conditions are Cardiac, Gastrointestinal, Cognitive, and Respiratory
involvement.
Since the decline in motor activities over the course of the disease cannot be avoided, it is important
to use functional assessment scales for use in clinical follow–up, establishment of functional
diagnosis and therapeutic decisions making. Several functional scales exist for the assessment of
individuals with diseases associated with neuromuscular. Subsequently, the Vignos scale (VS) lays
more focus on functional activities involving the lower limbs

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
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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

Myotonic Dystrophy Research Paper
Myotonic Dystrophy is the most common form of muscular dystrophy. It is a chronic, multi–system
disorder that is characterized by progressive muscle wasting and weakness. Symptoms include;
myotonia (prolonged muscle contractions), the inability to relax certain muscles after use, slurred
speech, temporary locking of jaw, cataracts, abnormalities of the electrical signals that control the
heartbeat, and early balding and infertility in men. There are two major types of myotonic
dystrophy, type 1 and type 2. Many of the symptoms are overlapping, the only differences are type 1
is generally more severe than type 2 and type 1 affects the lower legs, hands, neck and face.
Whereas, type 2 affects the neck, shoulders, elbows, and hips. Myotonic dystrophy ... Show more
This protein may play a role in the communication within cells, especially those of the heart, brain
and skeletal muscles. It is believed that the protein is involved in the communication between cells
and regulates the production and function of important structures inside muscles cells by interacting
with other proteins. The DMPK gene is located on the long arm of chromosome 19 at position 13.3.
It is between base pairs 45,769,708 and 45,782,556 making it 12848 base pairs long. It consists of a
trinucleotide repeat of the nucleotide sequence CTG. Meaning that the nucleotides CTG are repeated
multiple times. In a normal DMPK protein the number of CTG repeats ranges from 5–34. The
mutation that causes myotonic dystrophy is known as trinucleotide repeat expansion, meaning it
increases the number of times CTG is repeated in the gene. People with myotonic dystrophy can
have 50 to 50,000 repeats, the more repeats an individual has the worse their symptoms are. The
increased number of repeats produces an expanded version of mRNA, which then forms clumps
inside the cell that interfere with the production of many other proteins. These clumps prevent
muscle cells and cells in other tissues from functioning

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,

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

Taking a Look at Muscular Dystrophy
The first written account of Muscular Dystrophy occurred in 1830, composed by Sir Charles Bell
(Audrey S. Penn, 2001). His essay, along with many other accounts, display instances of younger
boys getting progressively weaker, losing the ability to walk, and dying at extremely early ages.
These diagnostics continued to become more frequent up into the late 1800s and early 1900s. As
these symptoms were being researched and observed it soon became prevalent that this disease can
affect all people of any sex or age. Muscular Dystrophy (or MD) is a general term representing more
than 30 inherited diseases and subcategories that affect the skeletal, and in some cases involuntary,
muscle regions (Hegde, 2012). The gene is recessively X–linked, meaning that females are carriers
of the mutation even if they do not have the disease, and males will either have it or not. The X–
linked characteristic of MD is the reason why most types are seen more abundantly in males. MD
can lead to the symptoms seen in the 1800s; inability to walk or function properly, substantial
weakness, and potentially death. The reason behind differencing types of MD is because no one case
is the same; they are categorized based of the areas of the body that are affected, the ages that
symptoms become present, and the level of intensity of the disease. Duchenne Muscular Dystrophy
is present only in boys, from birth; however, symptoms do not usually show until the ages of 3–5.
Another widely existing disease is

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
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

Duchenne Muscular Dystrophy Research Papers
Ben has Duchenne Muscular Dystrophy (DMD). DMD is a degenerative disease of the muscles.
When someone has this disease their muscles do not produce enough dystrophin to stay together.
This causes the muscles to deteriorate over time. With proper care, the rate of muscle degradation
can be slowed down. Duchenne muscular dystrophy is a genetic disorder characterized by
progressive muscle degeneration and weakness. Muscle weakness can start as early as age three. It
first affects the hips, pelvic area, thighs, and shoulders. This disease is still fatal and will be until
further studies and research are done to find ways to cure this disease.
Ben most likely got DMD from his mother. The mother is the carrier of this disease. She passes it on
... Show more content on Helpwriting.net ...
However, if Ben's parents have decided to have other children, their children run the risk of having
DMD or being a carrier of DMD. There is no way to reduce these risks, but there is a chance that
their children will not have the same problems as Ben.
Ben's disease will get progressively more difficult to live with. He will need a back brace to prevent
his scoliosis from getting more severe. He is also going to need a wheelchair, since he is going to
become too weak to walk. The average life expectancy for Ben is around 25 years, since there are no
definite cures yet.
Even though there are no cures, there are some treatments to slow down the progression of Ben's
DMD. Ben can take certain supplements that will help him function better. One of them is beta–
Hydroxy beta methylbutyric acid (HMB). This is an amino acid that helps slow down the
degradation of a person's muscles. However, this has not been studied on DMD. Haelan is another
supplement that Ben can take. It will boost Ben's immune system and give him more energy overall,
which will help him live with his condition. Again, this has not been directly tested on DMD.
Deflazacort is an over–the counter drug that has anti–inflammatory properties that will preserve
Ben's muscles. This has been proven to prevent/ delay scoliosis as well. Ben could also take Q–10.
This is a coenzyme that many people with DMD lack. It will help his cells function

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. The most common type of

Duchenne Muscular Dystrophy (DMD)
Duchenne Muscular Dystrophy (also referred to as DMD) is a type of muscular dystrophy that
weakens the muscles that we need to support our body, body weight, to stand, and to move around.
It also can cause you to have scoliosis. Some of the main causes for DMD are genetic disorders,
mutations, and DMD has to be passed down throughout everyone in that family for generations. The
symptoms you can have if you have DMD are weak muscles, lack of strength, and difficulty
walking. DMD is a negative mutation because it affects your muscles horribly bad that you can get a
disability of walking and even moving. You need to tell your doctor immediately if you experience
any symptoms. If you don't tell your doctor, you may find yourself in a very difficult situation where
you can't get up or can't get something you need. When you do talk to your doctor, you will have an
advantage of getting the help you need. ... Show more content on Helpwriting.net ...
Only take ibuprofen or Tylenol if you are experiencing muscle soreness or muscles cramps. You also
need to hydrate on plenty of water so you don't get severe muscle soreness or muscle cramps. One
thing that people with DMD are required to do is physical therapy. Do DMD people have to do
anything special? Yes. If they are in a sport, they need assistance quite often because of their
disorder. Their diet is the same as for anyone else. People with DMD will either be in wheelchairs,
braces, or standing

Duchenne Muscular Dystrophy Essay
Duchenne's muscular dystrophy, also known as psuedohypertrophic muscular dystrophy, is a typical
sex–linked disorder in which the muscles degenerate throughout a person's life. It literally means
"faulty nutrition of the muscles." Muscular Dystrophy has no cures, and this particular type of
muscular dystrophy affects only males. One in 3,500 baby boys are born with this disorder and
survival is rare beyond the early 30s, death is usually caused by a respiratory disease. (ygyh.org)
Duchenne's muscular dystrophy is named after the French neurologist, Guillaume B. A. Duchenne,
who lived from 1806 to 1875. In 1861 he became the first person to describe the disorder. In 1951
Elizabeth Shull Russell, an American geneticist, ... Show more content on Helpwriting.net ...
(www.ncdi.nlm.nih.gov) Usually, children with muscular dystrophy develop normally during the
first few years of their life. In time some common symptoms appear, including: stumbling,
waddling, difficulty climbing stairs, and toe walking (walking on the toes, not letting the heels hit
the floor). It is also very common for a child with MD to develop large calf muscles. This is a
condition called calf pseudo hypertrophy, in which the muscle tissue is destroyed and replaced by
fat. (www.kidshealth.org) Duchenne?s muscular dystrophy usually affects the patient by age five,
and they?re usually in a wheelchair by the age of twelve. Over time the muscles weaken in the
shoulders, back, arms, and legs. Eventually the respiratory muscles are affected, and a ventilator is
required to assist with breathing. Kids with this form of MD usually have a life span of around
twenty years. Most kids with Duchenne?s muscular dystrophy are of average intelligence, although
one–third of MD cases also experience learning disabilities, and a few cases have mental
retardation. (www.kidshealth.org) Physical therapy can be used to help a child maintain muscle tone,
thereby extending their lifespan. For those that do have Duchenne?s muscular dystrophy activity is
highly encouraged. Inactivity can worsen the muscle disease. Leg braces can also allow a child with
MD to walk independently for a longer period of time.

Muscular Dystrophy Causes/Risk Factors:
Genetics is a key factor in potentially developing a form of muscular dystrophy, as it is caused by a
gene that protects muscle fibers suddenly becoming defective. However, this particular genetic
mutation can abruptly occur while an embryo is still developing in the egg of the mother. Muscular
dystrophy can occur in an individual of any age, sex, or race. The most common form of MD
diagnosed, Dechenne, is most often found in males of a youg age. However, family history of the
disease is the biggest risk factor associated with developing it.
Signs/Symptoms:
The tell– tale sign of muscular dystrophy is the weaking of muscles caused by loss of muscle mass.
Different signs can occur in different age groups, ... Show more content on Helpwriting.net ...
Treatments include:
⦁ Medications– prednisone (delatsone) and other corticosteroids can help with muscular dystrophy,
but can lead to additional problems such as weight gain and bone weakening. Heart medications,
like angiotensin converting enzyme (ACE) are recommended if MD is damaging the heart.
⦁ Physical therapy– exercise, including walking, swimming, range of motion, and stretching help
maintain strength, mobility (especially in the joints), and overall health.
⦁ Mobility aids– such as braces, canes, walkers, and wheelchairs provide support and also help
maintain mobility.
⦁ Breathing assistance– devices such as a ventilator improve upon a patients oxygen delivery,
especially at night.
How it affects the Muscular System:
Muscular dystrophy can negtively impact muscles in the body by disrupting strength, structure, and
signaling. MD can also have adverse effects on the nervous, repiratory, and immune systems by
leading to impairments such as learning disabilities, heart complications, and

Essay Muscular Dystrophy
Muscular Dystrophy
Scientists have been struggling with the cause, treatment of, and cure for Muscular dystrophy since
its discovery in 1886, by Dr. Guillaume Duchenne. Muscular dystrophy is a hereditary disease,
affecting thousands of people every year, two–thirds being children between the age of birth through
adolescents. Muscular dystrophy can also occur with no family history of the disease.
Muscular dystrophy is a degenerating disease, in which the skeletal muscles degenerate, lose their
strength, and cause increasing disability and deformity. Muscles attached to the bones through
tendons are responsible for movement in the human body, however, in muscular dystrophy the
muscles become progressively weak. As the muscle fibers ... Show more content on Helpwriting.net
...
Boys begin to have difficulty sitting up and standing, weakness that progresses to muscles in the
trunk and shoulder, and later affecting the heart muscle. By the age of twenty years individuals
affected with Duchenne dystrophy die.
While there is no known cure, scientists are certain of the genetic make–up that causes muscular
dystrophy, an inherited faulty gene. This gene can be inherited in one of four ways: X–linked or
sex–linked recessive, when a man with X–Linked muscular dystrophy has children, Autosomal
Recessive Inheritance, and Autosomal Dominant Inheritance.
The mother, who is a carrier, inherits an X–Linked or sex–linked faulty gene. The result is
producing an affected son and or a daughter being a carrier. The second way is an affected male
producing children, particularly daughters. All daughters born to fathers with x–linked muscular
dystrophy will be carriers; on the contrary their sons will be unaffected. Scientists link this to a
genetic mutation in the gene, appearing most often for the first time in a family.
Autosomal recessive inheritance is the third type known to cause muscular dystrophy, whereas both
parents are carriers of the defective gene. For this reason the offspring have a 25% chance of being
affected with both malformed genes, resulting in them being affected. The chance increases with
cousin marriages.
The

Myotonic Dystrophy Case Study
In this article, myotonic dystrophy, the most common inherited type of muscular dystrophy found in
adults, is discussed. This disease occurs one out of every eight thousand people and is said to get
increasingly worse as it is passed down from generation to generation. Myotonic dystrophy affects
people by making it to where they cannot relax their muscles after using them; for example, if
someone with this disease were to grip something, they would have a hard time releasing that object.
This hinderance in turn causes the muscles to become weak and waste away. This article examines
two different case studies in which two individuals, from the same family, are found to have this
muscular disease before symptoms of this actual disease occur. In the first case study, a thirty–nine
year old woman visited her eye clinic for her regular checkup. During the examination, the doctor ...
As noted, though, symptoms do not have to be present in order for one to be diagnosed with
myotonic dystrophy: the daughter, for example. When the genetics of this disease, in these two
individuals, were examined, the "expansion of CTG repeats in the DMPK gene" was found, and it
was discovered that they both had DM1. Because of this research, we now know that patients can be
diagnosed with myotonic dystrophy without having systemic symptoms; this disease can be found
by physicians simply by a patient having "iridescent cataracts." Finally, to discuss possible treatment
options. Sadly, this disease has no treatment option that will completely rid it from the patient's
body. There has been medical advances, however, to help manage this diagnosis. The managing of
this disease depends on where the patient stands symptomatically. These medical advances help
allow the patient to live a fuller and longer life, by slowing the disease's progression on the patient's

Muscular Dystrophy Is Not A Disease
Muscular dystrophy is not a disease; it's a term for a genetic mutation. "The disease, mostly
affecting males, is transmitted as a sex–linked recessive trait" (Taber's Cylopedic Medical
Dictionary, 2013 pg. 736). There are 9 different types of muscular dystrophy. The two most common
types of muscular dystrophy are Duchenne and Becker. "MD is a progressive degeneration of
skeletal muscles from an as yet unknown biochemical defect within the muscle" (Sommers, 2011
pg. 691).
Males are affected way more often than females because the mutation of the gene occurs on the X
chromosome. Since males only have one X chromosome if that chromosome is mutated then the
signs and symptoms of muscular dystrophy show up and because females have two X ... Show more
The two most common types of muscular dystrophy, Duchenne and Becker, affect 1 in 3,500 to
5,000 males that are born in the world (Genetics Home Reference, 2012). Just in the United States
alone, over 400 males are born with one of these types of muscular dystrophy each year (Genetics
Home Reference, 2012). The life expectancy for Duchenne MD is about 20–25 years old. In Becker
MD the life expectancy is in middle adulthood. Most males lose the ability to walk at the age of 12
with Duchenne muscular dystrophy. They then fully rely on a wheelchair to get them anywhere. In
Becker muscular dystrophy some are still walking at the age of 30. It just depends on how early the
muscular dystrophy is found because depending upon when it's detected determines what form of
muscular dystrophy the patient has. Families may start noticing signs and symptoms of Duchenne
MD between the ages of 2 and 6. With Becker muscular dystrophy signs are not noticed until late
childhood or early adolescence. "Sons of female carriers of a mutated dystrophin gene have a 50%
chance of having DMD or BMD" (Richman & Schub, 2013). No specific race or ethnic group is
more affected by muscular dystrophy more than another. The patient has a better chance of getting
pneumonia or other pulmonary disorders and other risk factors include cardiac dysrhythmias and
hypertrophy (Sommers, 2011).
Muscular dystrophy is a disease in which muscles become weak over time due to muscular atrophy.
Duchenne and Becker

The Muscular Dystrophy Association ( Mda )
As a member of DECA, I have had the opportunity to network with the Muscular Dystrophy
Association (MDA). While learning about the work the association does, I realized that I want to do
similar work. In my effort, I worked on a promotional campaign for the Muscular Dystrophy
Association. Neuromuscular diseases, like Muscular Dystrophy, take away physical strength and
eventually life. The Muscular Dystrophy Association (MDA) fights to find a way to give back
strength, independence, and life. The work they do truly changes lives; however, they need support
from others.
The Muscular Dystrophy Association (MDA) has contributed to numerous research through MDA
Venture Philanthropy and MDA Funded Meetings. The MDA Venture Philanthropy, or MVP, is a
drug development program. The MVP program uses elements of a venture capital model to provide
funds for researchers. Furthermore, when many researchers and scientists are brought together they
can accomplish great things. MDA organizes and funds conferences to discuss the current status of
treatment and therapies for muscular dystrophy and other neuromuscular diseases. As the world's
largest non–profit supporter of neuromuscular research, MDA has contributed to almost every
neuromuscular development in the last fifty years.
Outside of research, MDA provides help and hope for people who deal with muscular disease by
providing support groups, care centers, summer camps, flu season support, and more. The care
centers that MDA

Description of Muscular Dystrophy. The first record of Muscular Dystrophy (MD) was reported in
1830 by Sir Charles Bell when he wrote a paper about the disease.
Symptoms of Muscular Dystrophy:
Difficulty getting up from a lying or sitting position
Walking on the toes
Learning disabilities
Large calf muscles
Frequent falls
Trouble running and jumping
All of the symptoms of Muscular Dystrophy are found in males but women can carry the gene but
most women aren't affected by it. There are also different types of Muscular Dystrophy such as
Myotonic Muscular Dystrophy (Steinert's disease) which causes the inability to relax muscles, this
is the most commonly found type of Muscular Dystrophy in adults. Congenital Muscular Dystrophy
is found in children under the age of 2 which can cause severe disability. Facioscapulohumeral
Muscular Dystrophy is muscle weakness in the face and shoulders onset normally starts in the
teenage years up till your forties. Limb–girdle Muscular Dystrophy affects the muscle in your hip
and shoulders and people who have this type of Muscular Dystrophy have a hard time lifting the
front part of there foot causing them to fall frequently most commonly found in teens and children.
Muscular Dystrophy is diagnosed by different types of tests including muscle biopsy when they take
and test a small amount of muscle tissue, DNA testing, nerve conduction tests where they use
electrodes to test muscle and nerve reaction. ... Show more content on Helpwriting.net ...
Dystrophin has no morphological characteristics. Dystrophin has no information on its metabolism.
The environment does not matter for Muscular Dystrophy because it is a genetic

An Overview of Muscular Dystrophy
For decades, muscular dystrophy has been associated with Jerry's kids. That is, Jerry Lewis
surrounded by children during the annual Muscular Dystrophy Association's Labor Day Telethon.
From 1966 to 2010, Jerry Lewis hosted this annual telethon to benefit those with muscular
dystrophy. Muscular dystrophy (MD) represents a group of nine inherited muscle disorders. The
telethon went on without Lewis from 2010 to 2014, ultimately ending in 2015.
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.
Symptoms
The characteristic symptom throughout all types of muscular dystrophy is progressive muscle
weakness, ... Show more content on Helpwriting.net ...
The types of surgeries can include an insertion of a pacemaker when heart problems are present,
surgery to improve spinal alignment when a curvature of the spine (scoliosis) interferes with
breathing, and surgery to remove cataracts from the eyes and improve vision.
A Word From Verywell
Receiving a diagnosis of MD can be incredibly overwhelming. Although there's currently no cure
for MD, the medical community has made great strides in understanding the illness and improving
the life expectancy and quality of life of those living with it. Whether you or a loved one have been
diagnosed with MD (or you just want to learn more about it), arm yourself with as much information
as possible so that you can make decisions that are right for you and your family's healthcare.
Sources:
Full List of Muscular Diseases. Muscular Dystrophy Association website.
https://www.mda.org/diseaseula
How is muscular dystrophy diagnosed? National Institute of Health website.
https://www.nichd.nih.gov/health/topics/musculardys/conditioninfo/diagnosed
June Capossela Kempf. "The muscular dystrophy telethon now just a memory." Newsday, 6 Sept.
2015.
Muscular Dystrophy. Cleveland Clinic website.

Muscular Dystrophy Case Study
Muscular Diseases: Muscular Dystrophy There are different types of diseases that can affect the
ability of the skeletal and muscular systems that are caused by many factors including nutrition to
exercise, two of the most important. Muscular Dystrophy (MD) is a muscular disease in which many
different, smaller genetic diseases combine and contribute to the creation of progressive weakening
and muscle mass digression. This muscular disease, though rare, is very serious and can't be cured in
any way if acquired. In the United States, there are fewer than 200,000 cases of muscular dystrophy
per year, mostly affection ages 0–40. As this age range of cases is so wide, the disease has to be
medically diagnosed using lab tests or imaging. Also shown ... Show more content on
Helpwriting.net ...
There are, however, ways to attempt prevention and treat the disease to lower the severity of it. In
some cases, it is impossible to prevent muscular dystrophy as the mutations are inherited. In this
case, it is suggested that one goes about treatment methods to decrease the severity of their
symptoms. If there are no inherited mutations from parents, there are ways that one can try to
prevent the acquisition of MD. Since the other way one's DNA can become mutated is through
environmental factors, people with no prior mutation can, to their best ability, avoid possible
environmental factors that have the ability to cause a mutation. For example, people should be
careful with the amount and severity of sunlight that they encounter and when going to get an x–ray
should ask for a lead shield to protect the parts of their body not being x–rayed from unnecessary
radiation. If, however, one has the correct mutations to have muscular dystrophy and has been
medically diagnosed with it, there are treatment methods available to lessen the severity of the
symptoms associated with the disease. The treatments of this disease include medications, self–care,
medical devices, therapies, and specialists. One of the more popular medications is Prednisone, a
prescription steroid that alters hormone effects in order to reduce inflammation. Even without a
prescription medicine, one can lower the severity of their symptoms. Self–care is one example of
this in which a person would do physical aerobic exercises for 20–30 minutes a day and five days a
week in order to improve cardiovascular health. Another non–prescription method of treatment is
using a medical device. One example of a medical device that can be used is a splint which simply
stabilizes and protects the injured joint (and in this case muscle). Another treatment similar to self–
care is physical therapy. In this

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

Case Study : Muscular Dystrophy.
Case Study: Muscular Dystrophy
Scott Shannon
PHGY 220– Gerald McGraw
October 31, 2014
Muscular dystrophy is a group of inherited diseases in which voluntary muscles or the muscles that
control movement, gradually weaken. MD is caused by mutations in genes responsible for proper
function and muscle structure. This disease in some forms, can also affect the heart and other
organs. The mutations disable the cells from properly maintaining muscle. This advances to muscle
weakness and progressive disability. These mutated genes are inherited from parents. MD can be
passed on if one or both parents have genes that cause muscular dystrophy. The genetic mutation
causing MD can develop as in infant, which is called spontaneous mutation. This occurs in very few
cases however. Some clinical effects of MD are: progressive muscle weakness, difficulty using
muscle groups, delayed motor skills, drooling, frequent falls, eyelid droops, difficulty climbing
stairs, problems walking, vertebral deformities, tendon reflexes reduced, and respiratory problems.
The condition can be a recessive inherited disorder, dominant inherited disorder or sex–linked (X–
linked) disorder depending on the type of MD. Recessive inherited disorder is an altered version of
the gene that is inherited from both parents. If an altered version of the gene is inherited from only
one parent, the person will become a carrier. This means the person is not affected but any children
they

Muscular Dystrophy And Its Effects On The Body
Muscular dystrophy is a group of diseases that cause an abnormal progressive deteriorating of the
muscles, leading to muscle weakness. Many different types of dystrophy are known, characterized
by the muscle groups affected. The disease is caused from a genetic mutation that prevents a protein
essential for normal muscle activity from being made, or being produced correctly. In each type of
muscular dystrophy, a different protein is irregular (Emery, 2008). Furthermore, because this disease
is due to a genetic mutation, there is no cure to fix the mutation. Therefore treatment is used to
attend to the problems caused by the dystrophy and treatment strives to create a pleasant life for the
patient. According to the National Institute of Neurological Disorders and Stroke, treatment methods
include multiple types of therapy, including respiratory, physical, speech, drug, and occupational, as
well as surgery (NINDS, 2011). Hydrotherapy, a type of physical therapy in water and its effects on
muscular dystrophy patients will be focused on in the succeeding study.
BACKGROUND:
The most common muscular dystrophy is Duchenne dystrophy (Emery 2008). Due to a genetic
defect only on the X chromosome, this disease is present primarily in males. The University of
California Los Angeles found the occurrence at 1 out of every 5000 males in countries that provide
genetic counseling (UCLA). The protein discovered that is absent is dystrophin, a protein essential
in the membrane of muscle

What is Muscular Dystrophy? Essay
According to the MediLexicon Medical Dictionary, muscular dystrophy is defined as a general term
for a number of hereditary, progressive degenerative disorders affecting skeletal muscles, and often
other organ systems (Staff). Basically what that means is that muscular dystrophy is a genetic
disorder that is passed down that affects the skeletal muscles and other organs by slowly breaking
them down. Since it is genetic, it is not contagious and you cannot catch it from someone who has it.
MD weakens muscles over time, so children, teens, and adults who have the disease can gradually
lose the ability to do the things most people take for granted, like walking or sitting up. Someone
with MD might start having muscle problems as a baby or ... Show more content on Helpwriting.net
...
They might even need a ventilator to breathe over time as the muscles that control breathing get
weaker and weaker.
Becker muscular dystrophy (BMD) is very similar to DMB in that it also just affects boys and
shares some of the same symptoms like weakness and muscle breakdown but the symptoms are less
intense and may start later in life. Sometimes the symptoms are not present until the age of ten or
into adulthood. Those diagnosed with BMD can have all of the same symptoms as DMB but many
people with this disease live long and active lives without the use of a wheelchair.
Emery–Dreifuss muscular dystrophy (EDMD) is a rare form of muscular dystrophy. It is another
one that only affects boys that appears from childhood to the early teen years and sometimes as late
as the age of twenty five. It causes muscles weakness and wasting in the shoulders, upper arms,
shins, and often causes problems with the joints becoming tighter. Life threatening heart problems
are common and can also affect those who do not have this disease, but simply carry the genes for it.
This is a slow progressing disease and often has slow progressing muscle weakness compared to
other forms of muscular dystrophy.
Limb–girdle muscular dystrophy is a form of the disease that affects both boys and girls equally and
appears in the teenage years all the way into adulthood. It usually progresses slowly over time and
within 20 years walking will become difficult or impossible, eventually a wheelchair

Genetic Disorders: Muscular Dystrophy
Muscular dystrophy
Background Info
Muscular dystrophy (MD) is a genetic disorder caused by incorrect or missing genetic information
that leads to the gradual weakening of the muscle cells. Various causes lead to weak and
deteriorating muscles depending on the type of muscular dystrophy the patient was affected by.
However, there are many causes for muscular dystrophy due to the fact that there are thirty forms of
muscular dystrophy, which are categorized under several categories. All are ultimately caused by
autosomal recessive, autosomal dominant, sex–linked, and random mutations in very rare cases.
Types of Muscular Dystrophy
An example of one such category of muscular dystrophy is distal muscular dystrophy. distal
muscular dystrophy causes atrophied muscles due to a damaged DYSF or ANO5 gene. The DYSF
gene aids in the creation of dysferlin. Dysferlin is found in the thin sarcolemma of the muscle tissue
which is thought to aid the sarcolemma in repairing muscles. Since the production of dysferlin is
inhibited by this form of muscular dystrophy, the muscles are not able to be repaired, leading them
to become progressively more damaged and ineffective over time. Abnormalities in the other ANO5
gene, which produces anoctamin–5 affect muscles by reducing if not eliminating said protein. ANO5
is thought to provide transport for chlorine ions to the muscle cells of a muscle. These two genetic
disorders are usually closely linked and it is common for the abnormality of one gene

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,

Muscular Dystrophy Essay
Duchenne Muscular Dystrophy and Ground–Breaking Research
Duchenne Muscular Dystrophy or DMD for short is a genetic disease that affects the skeletal
muscles causing muscle degeneration and muscle wasting. Duchenne Muscular Dystrophy is an X–
linked recessive chromosomal disease, which is caused by mutations in the DMD Gene
(Regenerative Medicine). This Disease affects 1 in 3600 boys (Regenerative Medicine). A male born
with this disease experiences respiratory dysfunction, trouble ambulation, cognitive impairment,
some even experience premature death. Unfortunately, there is no cure for DMD, but there are
research studies in the works for different therapies to help reverse this gene mutation and to elevate
symptoms associate with this disease. ... Show more content on Helpwriting.net ...
The researchers are looking at a method of using this gene replacement in a way that a virus would
infect a host. Meaning the scientist would engineer a virus that has healthy dystrophin genes within
in it, then they will use this virus to infect the host, being someone who has DMD, in hopes that the
engineered virus will act like a real virus and replicated once it has entered. Once the healthy genes
have been replicated the muscles can uses these health dystrophin genes for muscle repair to reverse
this disease. Getting into Myosin inhibitors, this therapy is used to stop Myostatin from being
produced. Myostatin is a protein produced naturally by the body to stop muscle growth, In DMD
patients muscle growth is detrimental, stopping this proteins production in would allow muscle to
continue to grow in DMD patients. The Pharmaceutical Company Pfizer is currently developing a
myostatin inhibitor which is currently undergoing clinical trials to be used I DM patients(MDA). In
Stem cell Transplant in DMD patients, researchers are hoping to accelerate the rate of muscle
repairer. Scientist are doing research with how stem cells can be used to repair damaged muscles
and tissues in DMD patients. Stem cells play a huge role in repair and maintance in the body, taking
healthy stem cells from a donor and transplanting them

Becker Muscular Dystrophy (BMD)

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