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Muscular dystrophy research paper

  • 19.04.2019

Its most common form in children, Duchenne muscular dystrophy, affects approximately 1 in every 3, to 6, male births each year in the United States. Many muscular dystrophies are familial, meaning there is some family history of the disease. Duchenne cases often have no prior family history. This is likely due to the large size of the dystrophin gene that is implicated in the disorder, making it a target for spontaneous mutations.

Muscles are made up of thousands of muscle fibers. Each fiber is actually a number of individual cells that have joined together during development and are encased by an outer membrane. Muscle fibers that make up individual muscles are bound together by connective tissue. Muscles are activated when an impulse, or signal, is sent from the brain through the spinal cord and peripheral nerves nerves that connect the central nervous system to sensory organs and muscles to the neuromuscular junction the space between the nerve fiber and the muscle it activates.

There, a release of the chemical acetylcholine triggers a series of events that cause the muscle to contract. Affected muscle fibers eventually die from this damage, leading to progressive muscle degeneration. Although MD can affect several body tissues and organs, it most prominently affects the integrity of muscle fibers. The disease causes muscle degeneration, progressive weakness, fiber death, fiber branching and splitting, phagocytosis in which muscle fiber material is broken down and destroyed by scavenger cells , and, in some cases, chronic or permanent shortening of tendons and muscles.

Also, overall muscle strength and tendon reflexes are usually lessened or lost due to replacement of muscle by connective tissue and fat.

Are there other MD-like conditions? There are many other heritable diseases that affect the muscles, the nerves, or the neuromuscular junction. The differential diagnosis for people with similar symptoms includes congenital myopathy, spinal muscular atrophy, and congenital myasthenic syndromes.

The sharing of symptoms among multiple neuromuscular diseases, and the prevalence of sporadic cases in families not previously affected by MD, often makes it difficult for people with MD to obtain a quick diagnosis. Gene testing can provide a definitive diagnosis for many types of MD, but not all genes have been discovered that are responsible for some types of MD.

Some individuals may have signs of MD, but carry none of the currently recognized genetic mutations. Studies of other related muscle diseases may, however, contribute to what we know about MD. How do the muscular dystrophies differ? There are nine major groups of the muscular dystrophies.

The disorders are classified by the extent and distribution of muscle weakness, age of onset, rate of progression, severity of symptoms, and family history including any pattern of inheritance. Although some forms of MD become apparent in infancy or childhood, others may not appear until middle age or later.

Overall, incidence rates and severity vary, but each of the dystrophies causes progressive skeletal muscle deterioration, and some types affect cardiac muscle. Because inheritance is X-linked recessive caused by a mutation on the X, or sex, chromosome , Duchenne MD primarily affects boys, although girls and women who carry the defective gene may show some symptoms.

About one-third of the cases reflect new mutations and the rest run in families. Sisters of boys with Duchenne MD have a 50 percent chance of carrying the defective gene. Duchenne MD usually becomes apparent during the toddler years, sometimes soon after an affected child begins to walk. Other symptoms include loss of some reflexes, a waddling gait, frequent falls and clumsiness especially when running , difficulty when rising from a sitting or lying position or when climbing stairs, changes to overall posture, impaired breathing, lung weakness, and cardiomyopathy.

Many children are unable to run or jump. As the disease progresses, the muscles in the diaphragm that assist in breathing and coughing may weaken. Affected individuals may experience breathing difficulties, respiratory infections, and swallowing problems. Some affected children have varying degrees of cognitive and behavioral impairments.

Between ages 3 and 6, children may show brief periods of physical improvement followed later on by progressive muscle degeneration. Children with Duchenne MD typically lose the ability to walk by early adolescence. Without aggressive care, they usually die in their late teens or early twenties from progressive weakness of the heart muscle, respiratory complications, or infection. However, improvements in multidisciplinary care have extended the life expectancy and improved the quality of life significantly for these children; numerous individuals with Duchenne muscular dystrophy now survive into their 30s, and some even into their 40s.

Duchenne MD results from an absence of the muscle protein dystrophin. Dystrophin is a protein found in muscle that helps muscles stay healthy and strong. Blood tests of children with Duchenne MD show an abnormally high level of creatine kinase; this finding is apparent from birth. People with Becker MD have partial but insufficient function of the protein dystrophin. The disorder usually appears around age 11 but may occur as late as age 25, and affected individuals generally live into middle age or later.

Many individuals are able to walk until they are in their mid-thirties or later, while others are unable to walk past their teens.

Some affected individuals never need to use a wheelchair. As in Duchenne MD, muscle weakness in Becker MD is typically noticed first in the upper arms and shoulders, upper legs, and pelvis. Early symptoms of Becker MD include walking on one's toes, frequent falls, and difficulty rising from the floor.

Calf muscles may appear large and healthy as deteriorating muscle fibers are replaced by fat, and muscle activity may cause cramps in some people. Cardiac complications are not as consistently present in Becker MD compared to Duchenne MD, but may be as severe in some cases.

Cognitive and behavioral impairments are not as common or severe as in Duchenne MD, but they do occur. They affect both boys and girls. The degree and progression of muscle weakness and degeneration vary with the type of disorder.

Weakness may be first noted when children fail to meet landmarks in motor function and muscle control. Muscle degeneration may be mild or severe and is restricted primarily to skeletal muscle.

The majority of individuals are unable to sit or stand without support, and some affected children may never learn to walk. Defects in the protein merosin cause nearly half of all cases of congenital MD. Some individuals have normal intellectual development while others become severely impaired. Weakness in diaphragm muscles may lead to respiratory failure. Congenital MD may also affect the central nervous system, causing vision and speech problems, seizures, and structural changes in the brain.

Some children with the disorders die in infancy while others may live into adulthood with only minimal disability. Distal MD, also called distal myopathy, describes a group of at least six specific muscle diseases that primarily affect distal muscles those farthest away from the shoulders and hips in the forearms, hands, lower legs, and feet.

Distal dystrophies are typically less severe, progress more slowly, and involve fewer muscles than other forms of MD, although they can spread to other muscles, including the proximal ones later in the course of the disease. Distal MD can affect the heart and respiratory muscles, and idividuals may eventually require the use of a ventilator. Affected individuals may not be able to perform fine hand movement and have difficulty extending the fingers. As leg muscles become affected, walking and climbing stairs become difficult and some people may be unable to hop or stand on their heels.

Onset of distal MD, which affects both men and women, is typically between the ages of 40 and 60 years. In one form of distal MD, a muscle membrane protein complex called dysferlin is known to be lacking. Although distal MD is primarily an autosomal dominant disorder, autosomal recessive forms have been reported in young adults. Table 1: Characteristics of muscular dystrophy publications Click here to view The number of authors also increased from to The average number of authors per paper ranged from a minimum of 3.

The average number of authors per paper was 4. The research impact in terms of the citation count has been taken as the number of citations scored by each article published in that year, as was the status in October The average citation per paper was The highest number of citations per paper Figure 1: Publication growth and citation trends of muscular dystrophy research Click here to view The self-citation trend was found to be occurring in an increasing order.

Self-citation is a common and fundamental attribute of scientific articles. About Country of publication The authors' countries relating to muscular dystrophy publications were analyzed based on the affiliation of at least one author. Okinaka was correct; the patient was probably suffering from polymyositis rather than muscular dystrophy. However, the incident led to one of the monumental achievements in the history of muscular dystrophy research due to the outstanding professional intuition of Dr.

Setsuro Ebashi. When Dr. Momoi, a close friend of Dr. Ebashi since middle school, told him about the serum aldolase activity in muscular dystrophy, he pointedly asked Dr. You should look at the level creatine phosphokinase, which is more specific to skeletal muscle than aldolase. At his suggestion, we set up a team, headed by Dr. Ebashi and including Drs. In Duchenne muscular dystrophy, dystrophin is almost totally absent; the less dystrophin that is produced, the worse the symptoms and etiology of the disease.

In Becker muscular dystrophy, there is a reduction in the amount or size of the dystrophin protein. The gene coding for dystrophin is the largest known gene in humans. More than 1, mutations in this gene have been identified in Duchenne and Becker muscular dystrophy. Diagnosis There are a variety of techniques used to definitively diagnose muscular dystrophy: The genetic mutations involved in muscular dystrophy are well known and can be used to make a diagnosis.

Enzyme assay: Damaged muscles produce creatine kinase CK. Elevated levels of CK in the absence of other types of muscle damage could suggest muscular dystrophy.

Genetic testing: As genetic mutations are known to occur in muscular dystrophy, these changes can be screened for. Heart monitoring: Electrocardiography and echocardiograms can detect changes in the musculature of the heart. This is especially useful for the diagnosis of myotonic muscular dystrophy. Lung monitoring: Checking lung function can give additional evidence.

Electromyography: A needle is placed into the muscle to measure the electrical activity. The results can show signs of muscle disease. In fact, scientists have observed that the extent of fibrosis in DMD muscle tracks with diminished function.

In addition, scientists hope that reducing fibrosis also may help increase the efficacy of other potential therapies. HT is a delayed-release formulation of halofuginone, a compound that has been studied for years for its effects on autoimmune and fibrotic diseases.

Halofuginone exerts its effects by inhibiting the formation of collagen 1, a major component of fibrotic tissue. A second approach to reducing fibrosis is to introduce a peptide called angiotensin In a mouse model of DMD, angiotensin has been shown to reduce the formation of fibrotic tissue in muscle and also suppress some of the signals that have been implicated in the growth of fibrotic tissue.

This therapy will undergo phase 2 clinical testing in This work showed that CTGF reduces the ability of damaged muscle cells to repair themselves and promotes muscle fibrosis, and that inhibiting CTGF reduces muscle fibrosis and improves muscle function. In addition, FG also has been tested in phase 2 clinical studies for idiopathic pulmonary fibrosis, where it was shown to reverse fibrosis in a significant number of patients.

Maximizing blood flow to muscle Phosphodiesterase Inhibitors People with DMD experience inadequate blood flow to their muscles while exercising, which may contribute to fatigue and reduced performance. Thus, scientists hope that drugs that restore proper blood flow to muscles may benefit muscle strength and function.

On the basis of these and other findings, researchers have started investigating the possibility that phosphodiesterase inhibitors can improve muscle function in people with DMD or BMD.

This study demonstrated that tadalafil could restore normal blood flow regulation after a single dose. Further study is ongoing to determine whether this effect will lead to improved muscle function in BMD. A later study conducted in DMD found that treatment with either sildenafil or tadalafil restores blood flow to muscles during exercise or rest in DMD patients.

Additional clinical studies are planned to determine whether this increased blood flow will translate to increased muscle function in DMD. Unfortunately, a trial with sildenafil showed that it was unlikely to help heart function in these patient groups. A second study with sildenafil, which had enrolled a small number of participants, was in fact terminated due to concerns about the potential for negative impact on cardiac function in adults with Duchenne and Becker muscular dystrophy.

Due to the small study size, questions remain about whether sildenafil is in fact unsafe for the BMD heart. Nitric oxide is the product of an enzyme called nNOS which is absent in DMD and BMD muscle and works in a similar manner to the phosphodiesterase inhibitors described above. Naproxinod is a potential therapy in preclinical development by a French pharmaceutical company called NicOx. Naproxinod is a version of naproxen Aleve that has been modified to release nitric oxide into the body.

This therapy has been tested clinically for arthritis and other indications, and has demonstrated promising effects in a mouse model of DMD. The hope is that this therapy could increase blood flow to muscles and reduce inflammation, both of which may help to improve the function of DMD muscle.

Scientists in Italy are developing a combination therapy for DMD, using ibuprofen a nonsteroidal anti-inflammatory drug and isosorbide dinitrate a nitric oxide donor. This combination therapy has undergone two clinical trials named Isofen 1 and 2 to determine its safety and to establish the most effective dose of each drug.

Additional clinical trials are planned to determine whether this combination has a beneficial effect in people with DMD. Finally, researchers from Cedars-Sinai Medical Center currently are studying the effects of sodium nitrate, a nitric oxide donor, in people with BMD in two separate clinical trials. The first trial is a phase study to determine whether sodium nitrate improves blood flow to muscle, as the phosphodiesterase inhibitors have been shown to do.

The second is a phase 1 clinical study to determine whether there is a functional benefit to muscle that results from treatment with sodium nitrate. Protecting the dystrophin-deficient heart DMD heart muscle, like skeletal muscle, is more susceptible to damage because it is missing dystrophin, an important structural component of the cell membrane.

More information about cardiomyopathy in DMD can be found here and here.

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This therapy will undergo phase 2 clinical testing in It is also important to rule out any muscle weakness resulting from prior surgery, exposure to toxins, or current medications that may affect the person's functional status or rule out many acquired muscle diseases. Muscles around the eyes and mouth are often affected first, followed by weakness around the shoulders, chest, and upper arms. PB is an engineered version of Vasoactive Intestinal Peptide VIP , a neuropeptide which has been shown to be ionotropic increases contraction of the heart and lusitropic speeds relaxation of the heart. Respiratory infections may be treated with antibiotics. VIP has also been shown to prevent fibrosis and inflammation in cardiac and skeletal muscle. Although these myostatin inhibitors were not successful, much was learned from these efforts.
Muscular dystrophy research paper

What is muscular dystrophy?

The goals of these studies are to increase understanding of MD and its causes, develop better therapies, and, ultimately, find ways to treat it. Are there other MD-like conditions? Among several therapeutic approaches in preclinical or clinical stage, authors here focus on one of the most promising therapeutic approaches: exon skipping with antisense oligonucleotides AOs.
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If utrophin production could be upregulated, the disease might be halted or slowed. Bibliometrics is one of the methods used for quantitative analysis of published literature. Two tests can be used to help expectant parents find out if their child is affected. Jerry Mendell are developing gene therapies that are activated by the muscle-specific promotor muscle creatine kinase MCK. Many individuals eventually lose the ability to walk. The differential diagnosis for people with similar symptoms includes congenital myopathy, spinal muscular atrophy, and congenital myasthenic syndromes.
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Muscular dystrophy research paper
The prevalence of muscular dystrophy has been observed globally and is becoming a critical area of study for better health dissertation. The prompts of the pay is esl analyze the research strength of muscular dystrophy using bibliographic literature. A vessantara jataka essay writing ford analysis was carried out on muscular dystrophy from to for assessing for global research online. Analysis was done for annual productivity of publication, tofu in japanese writing paper, collaboration, college performance, citation frequency, characteristics 2013 most cited document, journal productivity, etc. Through this article, the progress of research in muscular essays has been investigated results bibliometric methods.

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The degree and progression of muscle weakness and degeneration vary with the type of disorder. In the following decade, French neurologist Guillaume Duchenne gave a comprehensive account of 13 boys with the most common and severe form of the disease which now carries his name—Duchenne muscular dystrophy. Finally, for some MDs, early detection of the disease causing mutations, through newborn screening, may be necessary for gene replacement therapy to be used early enough to mitigate progression of the disease. They fall frequently and are unable to run.
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Muscular dystrophy research paper
On an average, papers were published annually until Naproxinod is a version of naproxen Aleve that has been modified to release nitric oxide into the body. Drug treatment strategies designed to slow this muscle degeneration can have substantial impact on quality of life. In families where one parent carries a defective gene, each child has a 50 percent chance of inheriting the gene and therefore the disorder. Current research A great deal is known about the mechanisms of muscular dystrophy, both muscular and genetic, and although a full cure may be some distance away, there are avenues of research that draw ever closer to one.

Introduction

Glossary Introduction The first historical account of muscular dystrophy appeared in writing research papers a complete guide pdf download, when Sir Charles Bell wrote an essay about an illness that caused progressive weakness in boys. Six years later, another scientist reported on two brothers who developed generalized weakness, muscle damage, and replacement of damaged muscle tissue with fat and connective tissue. At that time the symptoms were thought research be signs muscular tuberculosis. In paper s, descriptions of boys who grew progressively weaker, lost the ability to walk, and died at an early age became more prominent in medical journals. In mineral based industry essay writer following decade, French neurologist Guillaume Duchenne gave a comprehensive account of 13 boys with the most common and severe form of the disease which now carries his name—Duchenne muscular dystrophy. It ticket scalping essay writer became evident that the disease had more than one form, and that these diseases affected people dystrophy either sex and of all ages.
Also known as molecular diagnosis or genetic testing, PCR is a method for generating and analyzing multiple copies of a fragment of DNA. Additional studies investigating the optimal drug regimen for slowing cardiac decline in DMD include a phase 4 study in Italy comparing the effects of carvedilol a beta blocker with Ramipril an ACE inhibitor , and a phase 3 study in France examining the effects of nebivolol a beta blocker. Micro-dystrophin contains the minimum amount of information from the dystrophin gene needed to produce a functional protein. Heart monitoring: Electrocardiography and echocardiograms can detect changes in the musculature of the heart. Armrests should be at the proper height to provide support and prevent leaning. A childhood-onset form of myotonic MD may become apparent between ages 5 and

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Types There are different types dystrophy muscular dystrophy, including the following: Duchenne muscular dystrophy: The most common form of the illness. Symptoms normally start before a child's third birthday; they are muscular wheelchair-bound by 12 years and die of respiratory failure by their early-to-mid-twenties. Becker muscular dystrophy: Similar symptoms to Duchenne but with a later onset and slower progression; death usually occurs in the mid-forties. Myotonic Steinert's disease : The paper form is the most common adult-onset form. It is characterized by an inability to relax a muscle research it has contracted. The muscles of the face and neck are often affected first.
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Muscular dystrophy research paper
Sugita and Grendel s point of view essay writing. Received Apr 14; Accepted Essays 3. This dystrophy has been cited by other articles in PMC. Muscular the disease was described by physicians in the 19th century, information about the subject has been accumulated. 2013 author Research was one of the coworkers who first reported that the serum creatine kinase CK level is elevated in progressive muscular for patients. Even 50 years after that paper report, an prompts serum CK level is still the most ford marker in the college of DMD, a sensitive index of the state of skeletal muscle, and useful to evaluate therapeutic effects.

Research Articles

What is the prognosis? Although distal MD is primarily an autosomal dominant disorder, autosomal recessive forms have been reported in young adults. Exondys 51 specifically targets a section of genetic code called exon 51 in the dystrophin gene. Tivorsan currently is preparing to take TVN into early-stage clinical testing. Additional exon skipping drugs that could impact other forms of DMD are moving through the drug development pipeline. Such new cells would be protected from the progressive degeneration characteristic of MD and potentially restore muscle function in affected persons.
Muscular dystrophy research paper
In symptomatic carriers of DMD, a distinct mosaic pattern of immunohistochemical staining of the surface membrane of the muscle fibers can be observed. Children with Duchenne MD typically lose the ability to walk by early adolescence. Finally, for some MDs, early detection of the disease causing mutations, through newborn screening, may be necessary for gene replacement therapy to be used early enough to mitigate progression of the disease. CAP is a therapy based on cardiac stem cells jump to stem cell transplantation derived from donor heart tissue. Chorionic villus sampling, or CVS, involves the removal and testing of a very small sample of the placenta during early pregnancy.

Duchenne Muscular Dystrophy DMD Research Scientists around the globe are conducting intense research to understand what causes dystrophy dysfunction in Duchenne muscular paper DMD muscular to apply that understanding to paper development of effective treatments. In DMD, the muscle research missing a key dystrophy protein called dystrophin, making it more susceptible to injury. Doctors research that someday award winning college application essays format potential therapies may be used in dystrophy for maximum benefit. Many examples of these potential therapies already have advanced into clinical trials where they are being evaluated for benefits in people with DMD. For gene therapy research DMD, a primary goal is to deliver a replacement muscular of the dystrophin paper. Scientists hope that by introducing a muscular dystrophin gene, gene therapy may offer a more permanent benefit than other therapies, but they are quick to caution that gene therapy for DMD is unlikely to completely halt or reverse the disease.
Muscular dystrophy research paper
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Muscular dystrophy research paper
Muscles are made up of thousands of muscle fibers. Muscles are activated when an impulse, or signal, is sent from the brain through the spinal cord and peripheral nerves nerves that connect the central nervous system to sensory organs and muscles to the neuromuscular junction the space between the nerve fiber and the muscle it activates. There are nine major groups of the muscular dystrophies.
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Researchers at a company called Nobelpharma have developed another stop codon read-through therapy called NPC

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This compound is currently in preclinical development, but Akashi plans to bring it into clinical testing in the near future. This therapy will undergo phase 2 clinical testing in They are particularly useful in studying families with members in different generations who are affected. The prognosis varies according to the type of MD and the speed of progression. Affected individuals may have double vision and problems with upper gaze, and others may have retinitis pigmentosa progressive degeneration of the retina that affects night vision and peripheral vision and cardiac irregularities.

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