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If your child has muscular dystrophy, ask your doctor about the most appropriate ways to discuss
this progressive condition with your child. Use of the MLPA assay in the molecular diagnosis of gene
copy number alterations in human genetic diseases. This can help narrow down which type of
congenital muscular dystrophy is present. Carriers usually have no disease symptoms Becker
muscular dystrophy life expectancy Most people with Becker muscular dystrophy survive well into
mid- to late adulthood. Distal MD affects the muscles in the forearms, hands, lower legs, and feet.
Parents received all related information both verbally and in written form and signed an informed
consent document, which provided a description of the research and a statement that they
participated voluntarily and they were free to withdraw or to refuse to answer at any time without
penalty. For help in understanding your family’s specific situation and planning for future children,
it’s best to meet with a genetic counselor. Figure 8. Facioscapulohumeral muscular dystrophy
autosomal dominant inheritance pattern Facioscapulohumeral muscular dystrophy symptoms
Facioscapulohumeral muscular dystrophy usually begins before age 20, with weakness and atrophy
of the muscles around the eyes and mouth, shoulders, upper arms and lower legs. In some cases of
myotonic or Emery-Dreifuss muscular dystrophy, a pacemaker may be fitted to correct an irregular
heartbeat. Download Free PDF View PDF Free PDF Adaptation of Pelage Color and Pigment
Variations in Israeli Subterranean Blind Mole Rats, Spalax Ehrenbergi Tomas Pavlicek 2013, PLoS
ONE Download Free PDF View PDF Free PDF e-Health: A promising solution for optimizing
management of chronic diseases. Subtypes of Limb-girdle muscular dystrophy (LGMD) Here is a
list of limb-girdle muscular dystrophy subtypes. Once the gene was successfully edited, it started
building functional dystrophin protein, enhancing the function of muscle tissue. If myotonia is
bothersome, it can be treated by drugs, such as mexiletine (Mexitil). Because it connects the center
of the muscle cell to the periphery, the dystrophin protein is extremely long. The reason for waddling
gait abnormality is weakness of the proximal muscles of the pelvic girdle which causes weakness of
the gluteus muscles. This involves measuring how fast signals travel from one part of a nerve to
another. The use, distribution or reproduction in other forums is permitted, provided the original
author(s) and the copyright owner(s) are credited and that the original publication in this journal is
cited, in accordance with accepted academic practice. Difficulty swallowing does not seem to be a
common feature of myotonic dystrophy 2. As adolescence approaches, children begin to show
symptoms of the adult-onset form of myotonic dystrophy1 and follow its usual progression. Treating
excessive sleepiness can make life more enjoyable for the person with myotonic dystrophy and his or
her family. Some people with myotonic dystrophy develop an abnormal heart rhythm known as atrial
fibrillation, in which the top part of the heart beats extremely fast, causing turbulent blood flow that
can lead to clots and strokes. Younger males are more prone to this disorder especially those whose
age falls between 5 to 25 years. On the other hand, parents develop internal coping mechanisms and
identify sources of empowerment, which they evaluate as positive aspects of their experience.
Occupational therapy can help you with everyday tasks such as dressing or using a computer.
Gradually, the muscles become weak enough that people experience the symptoms of limb-girdle
muscular dystrophy. In addition to the known limb-girdle muscular dystrophy1 and limb-girdle
muscular dystrophy2 subtypes linked to specific genes, there are many cases of limb-girdle muscular
dystrophy for which the causative gene is not yet known (and the person is not identified to have a
subtype-specific form of limb-girdle muscular dystrophy). Respiratory function Beginning at about
10 years of age, the diaphragm and other muscles that operate the lungs may weaken, making the
lungs less effective at moving air in and out. Qualitative findings were reviewed in weekly peer
debriefing sessions to detect biases and data errors. There are at least 11 subtypes of distal MD
characterized by the muscles affected. Therefore, the embryo will only contain cells in which the
non-translocated X chromosome with the unaffected DMD gene is inactivated, so no dystrophin is
produced ( 4 ). They appear to revise their priorities and perspectives to life, as they evaluate their
personal coping resources.
The problem is ours and we are going to deal with it.” (Participant 05) Commitment to the child
often results in a limited social life for most parents. A minority of females with the mutation, called
manifesting carriers, have some signs and symptoms of Duchenne muscular dystrophy. These include
such drugs as beta blockers and anti-arrhythmic drugs. Parents also may notice that children have
trouble climbing stairs, getting up from the floor (Gowers sign, using their hands to push on their
legs to get up) or running. Most deaths related to myotonic dystrophy are related to pneumonia,
breathing problems or heart problems. Facioscapulohumeral muscular dystrophy can develop
unevenly, so the muscles on one side of the body may be affected more than the other. Carriers may
not have any disease symptoms but can have a child with the mutation or the disease. X-inactivation
occurs early in embryogenesis and daughter cells inherit the pattern of inactivation ( 7 ). The main
theme in Gravelle’s study (1997) was “facing adversity” and included the constant challenges that
parents face as a result of their child’s progressive disorder. It is inherited from the person’s parents
who are suffering from this disease. This condition is known as clubfoot or talipes equinovarus.
Vomiting can be very dangerous for a person with myotonic dystrophy whose swallowing muscles
are weak. Possible barriers to help-seeking may be high levels of commitment and increased feelings
of social isolation. Among the simplest aid is a transfer board for helping the person move in and out
of the wheelchair. Upload Read for free FAQ and support Language (EN) Sign in Skip carousel
Carousel Previous Carousel Next What is Scribd. Walking like a duck means that when walking the
part of the pelvis of the leg moving forward moves outward and the part of the leg which is normally
placed moves inward. The specialist may prescribe exercises and techniques that can help improve
these areas, and the school also can provide special help with learning. Type 2 myotonic dystrophy
(myotonic dystrophy2) is caused by an abnormally expanded section in a gene on chromosome 3
called ZNF9. The most common form of DM is adult-onset DM1 and usually begins in a person’s
30s. The full terms of this license may be seen at: Vol.6,No.1, 2018,Pg. 17 - 31 JOURNAL
HOMEPAGE. The cardiac problems that occur with Emery-Dreifuss muscular dystrophy and
myotonic muscular dystrophy may require a pacemaker. Consult with your doctor about how much
exercise is best. Eventually, though, many people with myotonic dystrophy 1 find that a cane or
walker is helpful to compensate for foot and leg weakness. About one in three people with
facioscapulohumeral muscular dystrophy are unaware of any symptoms until well into adulthood.
These are the same drugs taken by many people with arthritis and other inflammatory conditions.
Dozens of different genes, when mutated, have been shown to cause specific limb-girdle muscular
dystrophy1 and limb-girdle muscular dystrophy2 subtypes. In the early stages, people with the
condition usually develop muscle contractures (where the muscles and tendons become shortened
and tightened, limiting the range of movement at nearby joints). Facioscapulohumeral muscular
dystrophy is one of many genetic disorders in which germ line mosaicism is believed to occur. A
tendon release procedure, also called heel cord surgery, can treat ankle and other contractures while
the child is still walking. The age of onset of limb-girdle muscular dystrophy is highly varied, ranging
from early childhood to later adulthood. Cardiac (heart) care Some types of congenital muscular
dystrophy, such as merosin-deficient congenital muscular dystrophy, are associated with severe
cardiac complications.
Vaginal pimples 2. Pimple on penis 3. What are lymph nodes ? 4. The doctor also wants to determine
whether the patient’s weakness results from a problem in the muscles themselves or in the nerves that
control them. EMFLAZA (deflazacort) is a corticosteroid drug for the treatment of Duchenne
muscular dystrophy in patients 5 years of age and older. If these recommendations are insufficient,
gastrostomy tube feeding should be considered. When elevated creatine kinase levels are found in a
blood sample, it usually means muscle is being destroyed by some abnormal process, such as a
muscular dystrophy or inflammation. Mechanical lifts, shower chairs and electronic beds also can be
useful. A male has one X and one Y sex chromosome, and a female has two X chromosomes.
Duchenne muscular dystrophy (DMD)—medical management. Gangopadhyay Medicine Indian
Pediatrics 2015 TLDR The positivity of PCR- based diagnosis is higher in this study possibly related
to highly selective group of patients, and Phenotype and genotype correlation was not seen. Muscle
biopsy. A small piece of muscle can be removed through an incision or with a hollow needle. This
has an effect on overall posture and a manner of walking, stepping, or running. In very rare
instances, a girl may lack a second X chromosome entirely, or her second X may have sustained
serious damage. Congenital muscular dystrophy Congenital muscular dystrophy refers to a group of
muscular dystrophies that become apparent at or near birth. The heart Like muscles in the limbs,
heart muscles also can be weakened by lack of dystrophin. Download Free PDF View PDF Free PDF
Adaptation of Pelage Color and Pigment Variations in Israeli Subterranean Blind Mole Rats, Spalax
Ehrenbergi Tomas Pavlicek 2013, PLoS ONE Download Free PDF View PDF Free PDF e-Health: A
promising solution for optimizing management of chronic diseases. A delay in the diagnosis of the
Syrian patient was similarly attributed at least in part to the lack of suspicion of DMD. The ability to
identify benefits in a disease-related experience has been associated with positive psychosocial
functioning (Peay et al., 2016). Similarly, Webb (2005) found that parents coped in a practical and
positive way. If you have muscular dystrophy and decide to take creatine supplements, make sure
you mention this to your doctors. Gower sign - In 1879, neurologist William Richard Gowers
described the most significant Gowers sign as the characteristic patterns observed in patients with
Duchenne muscular dystrophy wherein they 'climb up' their thighs with the aid of their hands to
overcome the weakness of their pelvic and proximal lower limb muscles. Don’t be afraid to ask for
help if you are struggling. There’s some preliminary evidence that treatment with angiotensin
converting enzyme (ACE) inhibitors and beta blockers can slow the course of cardiac muscle
deterioration in Duchenne muscular dystrophy if the medications are started as soon as abnormalities
on an echocardiogram (ultrasound imaging of the heart) appear but before symptoms occur. In
addition to its force-transfer role, dystrophin provides the scaffold for holding numerous molecules
in place near the cell membrane. In a study from University of Texas Southwestern Medical Center,
researchers used CRISPR to make a single cut at a few strategic points along DNA in cells derived
from DMD patients, with the result of potentially correcting most of the 3,000 gene mutations that
cause DMD. A muscle biopsy (immunohistochemistry or immunoblotting) or genetic test (blood test)
con?rms the absence of dystrophin, although improvements in genetic testing often make this
unnecessary. Oculopharyngeal muscular dystrophy In oculopharyngeal muscular dystrophy,
symptoms aren’t usually apparent until a person is around 50 or 60 years old. Also known as
Steinert’s disease, this form is characterized by an inability to relax muscles at will following
contractions. Cardiac and smooth muscle may be affected in some types of muscular dystrophy. In
this procedure, the scapulae are fixed to the ribs so that they don’t move. It causes progressive
weakness by affecting all body muscles and leads to early death (Emery, 2002). Verywell Health is
part of the Dotdash Meredith publishing family.
This can be very serious, even causing sudden death. Early in the embryonic development of a
female, either the X chromosome from the mother (maternal X) or the one from the father (paternal
X) is inactivated in each cell. What is the progression of limb-girdle muscular dystrophy. In females,
the muscles of the uterus can behave abnormally, leading to complications in pregnancy and labor.
Disease awareness campaigns about DMD and the diagnostic care guidelines could profoundly
reduce the time for referral and future diagnostic delays in the Middle East and globally ( 8 ). Those
on prednisone and those with heart problems may need a sodium-restricted diet. Fibrous tissue
begins to form in the muscle and the body’s immune system increases inflammation. But it’s
important to talk to your doctor first because some types of exercise might be harmful. Braces.
Braces can help keep muscles and tendons stretched and flexible, slowing the progression of
contractures. This means that people with Emery-Dreifuss muscular dystrophy may have difficulty
straightening their elbows or bending their neck forward, for example. Some people find a
lightweight, high-top shoe can be as helpful as an AFO in supporting the foot, at least in the early
stages of weakness. The age of onset of limb-girdle muscular dystrophy is highly varied, ranging
from early childhood to later adulthood. No peer-reviewed studies from these trials have been
published yet, but doctors claim the tool has succeeded in improving some patients’ conditions. This
test, also performed on a blood sample, measures the amount of an enzyme known as creatine kinase
in the blood. Facioscapulohumeral muscular dystrophy Facioscapulohumeral muscular dystrophy is a
genetic muscle disorder in which the muscles of the face, shoulder blades and upper arms are among
the most affected. The DMD gene provides instructions for making a protein called dystrophin. The
repeated spectrin units in the middle of the protein play an important role in linking the two ends but
studies have shown that the exact number of these units is not critical for the function of the protein
as a whole. Srivastava S. Pradhan B. Mittal G. Gowda Chemistry, Medicine NMR in Biomedicine
2010 TLDR Proton NMR spectroscopic investigations on the lipid extract of the serum of Duchenne
muscular dystrophy patients and healthy subjects in the northern Indian population may provide the
possibility of the diagnostic importance for DMD, especially in cases where genetic analysis fails to
provide the diagnosis. Respiratory function Beginning at about 10 years of age, the diaphragm and
other muscles that operate the lungs may weaken, making the lungs less effective at moving air in
and out. Thematic analysis is considered the most interesting and provoking-at the same time-part in
a qualitative research (Kyriazi, 2006). If your child has muscular dystrophy, ask your doctor about
the most appropriate ways to discuss this progressive condition with your child. However, life
expectancy tends to be lower than average. Surgery to remove the gallbladder can be performed if
necessary. Congenital muscular dystrophy results in overall muscle weakness with possible joint
stiffness or looseness. Qualitative research interview has the essential flexibility to capture subtle
shades of meaning of the subjects’ experience (Berg, 2001)the experience of parents of children with
a chronic disorder. In diagnosing any form of muscular dystrophy, a doctor usually begins by taking
a patient and family history, and performing a physical examination. The primary goals of physical
therapy are to allow greater motion in the joints and to prevent contractures and scoliosis. A scheme
for localizing the origin of the disturbance in muscle tone is presented, many of the known causes of
the tone abnormalities are reviewed, and a rational approach to the diagnostic evaluation of these
children is offered. In brief, if a disease is recessive, two copies of the defective gene (one from each
parent) are required to produce the disease. These include such drugs as beta blockers and anti-
arrhythmic drugs. Analysis was then focused at a second level of classification in broader categories.
The heart should be monitored for these complications. Exercise Since the precise underlying defect
that causes muscle loss in Facioscapulohumeral muscular dystrophy isn’t yet understood, it’s hard to
make precise recommendations about exercise. Cardiac symptoms sometimes are atypical, especially
in younger patients, and can start late in the course of the disease. However, there are many ways to
minimize and postpone contractures. Adults with later-onset type 2 myotonic dystrophy can have
stiffness and myotonia in the thighs and hands, neck weakness, and hip weakness with trouble
climbing stairs. It’s important to watch for swallowing problems, such as a tendency to choke on
food or drinks, and be sure to mention them to the doctor. Genetic counseling may be required as
well as family and individual counseling therapy. Specific signs and symptoms begin at different
ages and in different muscle groups, depending on the type of muscular dystrophy. Expand 16
Citations Add to Library Alert The Year Book of Pediatrics, 1966-67 Series T. E. Cone Medicine
Pediatrics 1967 TLDR The papers abstracted make up an international survey of pediatric
achievement because they were culled from more than 75 different medical journals published in at
least 15 different countries, including those of Central Africa. Progressive weakness can affect the
muscles associated with breathing. The buoyancy of the water helps protect against certain kinds of
muscle strain and injury. As the condition progresses slowly, it doesn’t usually shorten life
expectancy. Cardiac care The American Academy of Pediatrics recommends that people with
Duchenne muscular dystrophy have a complete cardiac evaluation by a specialist beginning in early
childhood and again at least every other year until age 10. Those on prednisone and those with
cardiomyopathy may require a sodium-restricted diet. Depending on the severity of your swallowing
problems, there are a number of treatments that can be used. By age 10, braces may be required to
aid in walking but most patients are wheelchair dependent by age 12. There are many different kinds
of muscular dystrophy. Pelvic girdle muscles are especially involved earlier in disease. Upload Read
for free FAQ and support Language (EN) Sign in Skip carousel Carousel Previous Carousel Next
What is Scribd. One out of 5000 males is suffering from Duchenne Muscular Dystrophy. Some
forms of LGMD can cause cardiomyopathy or weakness in the heart muscle. Initially, MLPA testing
was requested for one patient only. One group of congenital muscular dystrophys are due to
mutations in genes that help glycosylate (add sugar molecules to) the protein alpha-dystroglycan, a
key glycoprotein of the extracellular matrix. If a learning disability is diagnosed, educational and
psychological interventions can begin right away. Learning problems in Duchenne muscular
dystrophy occur in three general areas: attention focusing, verbal learning and memory, and
emotional interaction. They make a shortened form of the protein, which protects the muscles of
those with Becker from degenerating as completely or as quickly as those of people with Duchenne
muscular dystrophy. The segment isn’t part of any particular gene, but it nevertheless seems to
interfere with the correct processing of genetic material. Direct referral from primary care to the
genetic center could also have saved time to diagnosis in this case. Once the gene was successfully
edited, it started building functional dystrophin protein, enhancing the function of muscle tissue.
Manifesting carriers may have heart problems, which can show up as shortness of breath or inability
to do moderate exercise.
Lower leg braces, known as ankle-foot orthoses, or AFOs, can compensate for weakening muscles in
the lower leg that cause tripping and falling. Symptoms of the most common variety begin in
childhood, mostly in boys. Eventually, though, many people with myotonic dystrophy 1 find that a
cane or walker is helpful to compensate for foot and leg weakness. Genetic testing Genetic testing
involves analyzing the DNA of any cells (usually blood cells are used) to see whether there is a
mutation in the dystrophin gene, and if so, exactly where it occurs. Some men require wheelchairs by
their 30s or later, while some manage for many years with minor aids, such as canes. The repeated
spectrin units in the middle of the protein play an important role in linking the two ends but studies
have shown that the exact number of these units is not critical for the function of the protein as a
whole. Every boy inherits an X chromosome from his mother and a Y chromosome from his father,
which is what makes him male. The mutations mean that the cells that should maintain your muscles
can no longer fulfil this role, leading to muscle weakness and progressive disability. Muscular
dystrophy causes In most cases, muscular dystrophy (muscular dystrophy) runs in families. Early in
the diagnostic process doctors often order a special blood test called a CK (creatine kinase) level.
Mutations in the DMD gene cause the Duchenne and Becker forms of muscular dystrophy. In more
than 20 muscular dystrophies the most prevalent form is Duchenne muscular dystrophy. The heart
Lack of dystrophin can weaken the muscle layer in the heart (myocardium), resulting in a condition
calledcardiomyopathy. The protein then doesn’t function as it should to keep muscle cells intact, and
muscles start to break down. Early in the diagnostic process, doctors often order a blood test called a
CK (creatine kinase) level. Methods Aim of the Study The aim of this study is to further broaden
current knowledge on the experience of parents of children with DMD diagnosis. Each of these
proteins contributes in a different way to the process of “sugar-coating” (glycosylating)
dystroglycan. Duchenne and Becker muscular dystrophies together affect 1 in 3,500 to 5,000
newborn males worldwide. Expand Add to Library Alert Aging: Influence on Duchenne Muscular
Dystrophy (DMD) and Becker Muscular Dystrophy (BMD) N. In many cases, however, people with
no family history are suspected of having either facioscapulohumeral muscular dystrophy or some
other neuromuscular disorder. While physical therapy emphasizes mobility and, where possible,
strengthening of large muscle groups, occupational therapy focuses on specific activities and
functions. Muscle biopsies are less often performed today than in the past, especially when there’s a
DNA test for the disease the doctor suspects is causing the symptoms — as there is for
facioscapulohumeral muscular dystrophy. Many feel that others do not understand what they are
going through. Denial of symptoms and rationalization of the disorder characteristics are defense
mechanisms employed to protect parents from emotional overcharge and anxiety: “One’s child is in
sound health then he gets out and never comes back. Verywell Health's content is for informational
and educational purposes only. For instance, the amount of functional dystrophin protein found in a
muscle biopsy sample sheds light on whether the disease course is likely to be Duchenne muscular
dystrophy (with no dystrophin present) or the milder Becker muscular dystrophy (with some
partially functional dystrophin present). Duchenne type muscular dystrophy This is the most
common form of muscular dystrophy. This means that if you have a child with an unaffected partner,
there’s still a 50% chance of your child developing the condition. The parents consulted a
pediatrician, who suggested a vitamin deficiency and started treatment with vitamin D3 supplements.
A minority of females with the mutation are manifesting carriers, who usually have a mild form of
the disorder.