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Category Archives: Muscular Dystrophy Treatment

Muscular Dystrophy | Distrofia Muscular | Dystrophy Treatment

Posted: December 16, 2017 at 7:43 pm

Some Patients Give Up ..

Some others Dont Give Up…

and for Some Others , we don’t let them to Give Up

Even A Slight delay of the Progress of the Disease

Gains Valuable time for our Lives untill the Final Cure .

(M.D & M.S Members of Royal Cells Group )

—————————

The Great Importance of delaying the Progress of :

Muscular Dystrophy & Multiple Sclerosis

Muscular Dystrophy & Multiple Sclerosis belong to Degenerative Incurable Diseases today that affect progressively and other Vital organs of the Human Organism with great risk for severe complications .

Until the Day that the Final Cure will be invented , Patients must Follow Natural Remedies that are enabled to Special Nutrition & Special Physiotherapy , that are able to push back & delay the maximum possible the progress of these diseases.

Royal Cells Group contributes to this effort , to Gain the extra time Patients need, in order to stand firm till the cure of these diseases will be discovered in future .

Royal Cells Group

Is a Group of patients – all around the world – who use voluntarily Nectar “T Natural Daily Nutrition additionally with Special food in order to:

*Achieve Natural Reaction of their human Organism to fight by itself their degenerative diseases*Slow down the speed of progress of the degenerative diseases in order to Avoid or Delay complications dangerous for the life of patients*Prevent the expansion of the degenerative Diseases *Succeed a better quality of life .*Increase Life span & Endow the extra time , Patients need , in order to stand firm till the Cure will be discovered in future .

According to Patients reports , Nectar T achieves :for Muscular Dystrophy*Slow down the speed of progress of the disease from 20% up to 70%*Prevent the expansion to other Vital Organs from 30% up to 80%*Succeed a better quality of life from 40% up to 80%

for Multiple Sclerosis*Slow down the speed of progress of the disease from 30% up to 80%*Prevent the expansion to other Vital Organs from 30% up to 80%*Succeed a better quality of life from 30% up to 80%

for Fertility & Pregnancy problems

Outstanding results for Fertility and Pregnancy problems for both Males & Females , due to the capability of Nectar T to grand Bees naturally with the capability to gestate

Nectar T Natural Daily Nutrition is the entire feed of the Queen Bee that Activates the sleeping abilities of the Bee organism in order to extend her life span 40 times more than other bees , make her invulnerable to diseases and grands her also the capability to gestate.This Activation of the sleeping abilities to the bee organism due to Nectar T nutrition – seems to influence positively also the human organism.

Diseases can be helped with Nectar “T”Although -ccording to Official and Non Official reports- Nectar “T” intervenes in about 5000 diseases, Royal Cells Group specializes for :Multiple sclerosisDuchene Muscular Dystrophy Becker Muscular Dystrophy Myotonic Muscular Dystrophy FSH Muscular Dystrophy Congenital Muscular Dystrophy L.G Muscular Dystrophy Friedreich’s Ataxia

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Muscular Dystrophy | Distrofia Muscular | Dystrophy Treatment

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| Muscular Dystrophy Association

Posted: at 7:43 pm

Join Us for the 2018 MDA Clinical Conference

To accelerate progress in our mission to save and improve lives, MDA is proud to bring together more than 500 medical and scientific neuromuscular experts at our 2018 Clinical Conference, to be held March 11-14 at the Hyatt Regency Crystal City in Arlington, Va. Register now to save your seat.

Cytokinetics has reported negative results from its international phase 3 VITALITY-ALS trial to test the investigational drug tirasemtiv in people with ALS. The trial missed its primary endpoint of change from baseline in SVC after 24 weeks of treatment with tirasemtiv as compared to placebo. Based on these results, Cytokinetics has announced it will suspend the development of tirasemtiv.

We’re happy to announce more than $3 million in funding for 13 new research grants. They join the 29 research and development grants already announced this year in the quest to end muscular dystrophy, ALS and related life-threatening diseases. Read on to learn about the summer 2017 grant recipients and research projects the MDA community is now supporting.

Alexion Pharmaceuticals announced Oct. 23, 2017, that the U.S. Food and Drug Administration (FDA) has approved eculizumab (brand name Soliris) as a treatment for adult patients with generalized Myasthenia Gravis (gMG) who are anti-acetylcholine receptor antibody-positive. Soliris is the first in a new class of drugs to be approved for MG in the U.S.

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| Muscular Dystrophy Association

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Duchenne & Becker muscular dystrophy – causes, symptoms …

Posted: at 7:43 pm

What are Duchenne and Becker muscular dystrophy? Muscular dystrophy is where the muscles weaken and lose muscle mass; in this case, both Duchenne and Becker muscular dystrophy are caused by a genetic mutation in the dystrophin gene. Subscribe – https://goo.gl/w5aaaV. More videos – https://goo.gl/UhOKiM. Support us on Patreon – https://goo.gl/ZGHEk4.

This video covers the pathophysiology of both, as well as clinical signs and symptoms, and diagnosis, and management.

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Sources:Sarkozy A, Bushby K, Mercuri E. Muscular Dystrophies. In: Emery and Rimoin’s Principles and Practice of Medical Genetics (Sixth Edition); 2013.Darras BT, Miller DT, Urion DK. Dystrophinopathies. GeneReviews. http://www.ncbi.nlm.nih.gov/books/NBK…Robbins and Cotran Pathologic Basis of Disease. 1336-1338.

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Duchenne & Becker muscular dystrophy – causes, symptoms …

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Muscular dystrophy – Diagnosis and treatment – Mayo Clinic

Posted: at 7:43 pm

Diagnosis

Your doctor is likely to start with a medical history and physical examination.

After that, your doctor may recommend:

There’s no cure for any form of muscular dystrophy. But treatment can help prevent or reduce problems in the joints and spine to allow people with muscular dystrophy to remain mobile as long as possible. Treatment options include medications, physical therapy, and surgical and other procedures.

Your doctor may recommend:

Several types of therapy and assistive devices can improve quality and sometimes length of life in people who have muscular dystrophy. Examples include:

Surgery may be needed to correct a spinal curvature that could eventually make breathing more difficult.

Explore Mayo Clinic studies testing new treatments, interventions and tests as a means to prevent, detect, treat or manage this disease.

Respiratory infections may become a problem in later stages of muscular dystrophy. It’s important to be vaccinated for pneumonia and to keep up to date with influenza shots.

Dietary changes haven’t been shown to slow the progression of muscular dystrophy. But proper nutrition is essential because limited mobility can contribute to obesity, dehydration and constipation. A high-fiber, high-protein, low-calorie diet may help.

A diagnosis of muscular dystrophy can be extremely challenging. To help you cope:

You may be referred to a doctor who specializes in the diagnosis and treatment of muscular dystrophy.

Don’t hesitate to ask other questions during your appointment.

Your doctor is likely to ask you a number of questions. Being ready to answer them may make time to go over points you want to spend more time on. You may be asked:

Nov. 27, 2014

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Muscular dystrophy – Diagnosis and treatment – Mayo Clinic

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Muscular dystrophy – Symptoms and causes – Mayo Clinic

Posted: December 15, 2017 at 4:46 pm

Overview

Muscular dystrophy is a group of diseases that cause progressive weakness and loss of muscle mass. In muscular dystrophy, abnormal genes (mutations) interfere with the production of proteins needed to form healthy muscle.

There are many different kinds of muscular dystrophy. Symptoms of the most common variety begin in childhood, primarily in boys. Other types don’t surface until adulthood.

Some people who have muscular dystrophy will eventually lose the ability to walk. Some may have trouble breathing or swallowing.

There is no cure for muscular dystrophy. But medications and therapy can help manage symptoms and slow the course of the disease.

The main sign of muscular dystrophy is progressive muscle weakness. Specific signs and symptoms begin at different ages and in different muscle groups, depending on the type of muscular dystrophy.

About half of people with muscular dystrophy have this variety. Although girls can be carriers and mildly affected, the disease typically affects boys.

About one-third of boys with Duchenne muscular dystrophy don’t have a family history of the disease, possibly because the gene involved may be subject to sudden abnormal change (spontaneous mutation).

Signs and symptoms typically appear between the ages of 2 and 3, and may include:

Signs and symptoms are similar to those of Duchenne muscular dystrophy, but typically are milder and progress more slowly. Symptoms generally begin in the teens but may not occur until the mid-20s or even later.

Some types of muscular dystrophy are defined by a specific feature or by where in the body symptoms first begin. Examples include:

Seek medical advice if you notice signs of muscle weakness such as increased clumsiness and falling in yourself or your child.

Certain genes are involved in making proteins that protect muscle fibers from damage. Muscular dystrophy occurs when one of these genes is defective.

Each form of muscular dystrophy is caused by a genetic mutation particular to that type of the disease. Many of these mutations are inherited. But some occur spontaneously in the mother’s egg or the developing embryo and can be passed on to the next generation.

Muscular dystrophy occurs in both sexes and in all ages and races. However, the most common variety, Duchenne, usually occurs in young boys. People with a family history of muscular dystrophy are at higher risk of developing the disease or passing it on to their children.

The complications of progressive muscle weakness include:

Nov. 27, 2014

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Muscular dystrophy – Symptoms and causes – Mayo Clinic

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Muscular Dystrophy – OrthoInfo – AAOS

Posted: at 4:46 pm

There are nine major types of MD affecting people of all ages, from infancy to middle age or later. These forms of MD differ in terms of age of onset and muscles affected. How severe the symptoms are and how rapidly the disease progresses also varies.

The two most common types of MD that affect children are Duchenne muscular dystrophy (DMD) and Becker muscular dystrophy (BMD).

Both DMD and BMD affect boys almost exclusively. They are sex-linked (X-linked) disorders that typically pass from a mother (who has no symptoms) to her son. Girls are rarely affected.

Both Duchenne MD and Becker MD cause weak muscles, lack of coordination, and progressive disability.

Duchenne MD begins with muscle loss in the pelvis, upper arms, and legs. The first signs and symptoms of DMD develop between ages 2 to 5 years. Symptoms include:

Many children with DMD lose their ability to walk by late childhood and require wheelchairs. As muscles continue to weaken in the back and chest, most children develop curvature of the spine (scoliosis). By adolescence, DMD usually progresses to weaken the heart and respiratory muscles.

Becker MD begins with muscle loss in the hips, pelvis, thighs and shoulders. BMD is basically a milder form of Duchenne MD. Symptoms include:

BMD progresses more slowly over the course of decades, and is a milder and less predictable disease. Some men with BMD need wheelchairs by age 30 years or later; others manage for many years with minor aids, such as a walking cane.

If you think your child may have any form of MD, see your doctor as soon as possible for diagnosis and comprehensive care.

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Muscular Dystrophy – OrthoInfo – AAOS

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Duchenne muscular dystrophy – Wikipedia

Posted: December 10, 2017 at 6:50 am

Duchenne muscular dystrophy (DMD) is a severe type of muscular dystrophy.[2] The symptom of muscle weakness usually begins around the age of four in boys and worsens quickly.[1] Typically muscle loss occurs first in the upper legs and pelvis followed by those of the upper arms.[2] This can result in trouble standing up.[2] Most are unable to walk by the age of 12.[1] Affected muscles may look larger due to increased fat content.[2]Scoliosis is also common.[2] Some may have intellectual disability.[2] Females with a single copy of the defective gene may show mild symptoms.[2]

The disorder is X-linked recessive.[2] About two thirds of cases are inherited from a person’s parents, while one third of cases are due to a new mutation.[2] It is caused by a mutation in the gene for the protein dystrophin.[2] Dystrophin is important to maintain the muscle fiber’s cell membrane.[2]Genetic testing can often make the diagnosis at birth.[2] Those affected also have a high level of creatine kinase in their blood.[2]

No cure for muscular dystrophy is known.[1]Physical therapy, braces, and corrective surgery may help with some symptoms.[1]Assisted ventilation may be required in those with weakness of breathing muscles.[2] Medications used include steroids to slow muscle degeneration, anticonvulsants to control seizures and some muscle activity, and immunosuppressants to delay damage to dying muscle cells.[1]

DMD affects about one in 5,000 males at birth.[2] It is the most common type of muscular dystrophy.[2] The average life expectancy is 26;[3] however, with excellent care, some may live into their 30s or 40s.[2]Gene therapy, as a treatment, is in the early stages of study in humans.[2]

The main symptom of DMD, a progressive neuromuscular disorder, is muscle weakness associated with muscle wasting with the voluntary muscles[citation needed] being first affected, especially those of the hips, pelvic area, thighs, shoulders, and calves. Muscle weakness also occurs later, in the arms, neck, and other areas. Calves are often enlarged. Symptoms usually appear before age six and may appear in early infancy. Other physical symptoms are:

According to Lewis P. Rowland, in the anthology Gene Expression In Muscle, if a boy is affected with DMD, the condition can be observed clinically from the moment he takes his first steps. It becomes harder and harder for the boy to walk; his ability to walk usually completely disintegrates between the time the boy is 9 to 12 years of age. Most men affected with DMD become essentially paralyzed from the neck down by the age of 21.[5] Muscle wasting begins in the legs and pelvis, then progresses to the muscles of the shoulders and neck, followed by loss of arm muscles and respiratory muscles. Calf muscle enlargement (pseudohypertrophy) is quite obvious. Cardiomyopathy particularly (dilated cardiomyopathy) is common, but the development of congestive heart failure or arrhythmia (irregular heartbeat) is only occasional.

DMD is caused by a mutation of the dystrophin gene at locus Xp21, located on the short arm of the X chromosome.[7]Dystrophin is responsible for connecting the cytoskeleton of each muscle fiber to the underlying basal lamina (extracellular matrix), through a protein complex containing many subunits. The absence of dystrophin permits excess calcium to penetrate the sarcolemma (the cell membrane).[8] Alterations in calcium and signalling pathways cause water to enter into the mitochondria, which then burst.

In skeletal muscle dystrophy, mitochondrial dysfunction gives rise to an amplification of stress-induced cytosolic calcium signals and an amplification of stress-induced reactive-oxygen species production. In a complex cascading process that involves several pathways and is not clearly understood, increased oxidative stress within the cell damages the sarcolemma and eventually results in the death of the cell. Muscle fibers undergo necrosis and are ultimately replaced with adipose and connective tissue.[citation needed]

DMD is inherited in an X-linked recessive pattern. Females typically are carriers for the disease, while males are affected. A female carrier will be unaware she carries a mutation until she has an affected son. The son of a carrier mother has a 50% chance of inheriting the defective gene from his mother. The daughter of a carrier mother has a 50% chance of being a carrier and a 50% chance of having two normal copies of the gene. In all cases, an unaffected father either passes a normal Y to his son or a normal X to his daughter. Female carriers of an X-linked recessive condition, such as DMD, can show symptoms depending on their pattern of X-inactivation.[citation needed] DMD has an incidence of one in 3,600 male infants.[6] Mutations within the dystrophin gene can either be inherited or occur spontaneously during germline transmission.[citation needed]

Disruption of the blood-brain barrier has been seen to be a noted feature in the development of DMD.[9]

Genetic counseling is advised for people with a family history of the disorder. DMD can be detected with about 95% accuracy by genetic studies performed during pregnancy.[6]

The muscle-specific isoform of the dystrophin gene is composed of 79 exons, and DNA testing and analysis can usually identify the specific type of mutation of the exon or exons that are affected. DNA testing confirms the diagnosis in most cases.[10]

If DNA testing fails to find the mutation, a muscle biopsy test may be performed.[11] A small sample of muscle tissue is extracted using a biopsy needle. The key tests performed on the biopsy sample for DMD are immunocytochemistry and immunoblotting for dystrophin, and should be interpreted by an experienced neuromuscular pathologist.[12] These tests provide information on the presence or absence of the protein. Absence of the protein is a positive test for DMD. Where dystrophin is present, the tests indicate the amount and molecular size of dystrophin, helping to distinguish DMD from milder dystrophinopathy phenotypes.[13] Over the past several years, DNA tests have been developed that detect more of the many mutations that cause the condition, and muscle biopsy is not required as often to confirm the presence of DMD.[14]

DMD is carried by an X-linked recessive gene. Males have only one X chromosome, so one copy of the mutated gene will cause DMD. Fathers cannot pass X-linked traits on to their sons, so the mutation is transmitted by the mother.[15]

If the mother is a carrier, and therefore one of her two X chromosomes has a DMD mutation, a 50% chance exists that a female child will inherit that mutation as one of her two X chromosomes, and be a carrier. If that carrier has a male child, there is a 50% chance that he will inherit the X chromosome with the mutation, and will have DMD. Prenatal tests can tell whether the unborn child has the most common mutations. Many mutations are responsible for DMD, and some have not been identified, so genetic testing only works when family members with DMD have an identified mutation.[citation needed]

Prior to invasive testing, determination of the fetal sex is important; while males are sometimes affected by this X-linked disease, female DMD is extremely rare. This can be achieved by ultrasound scan at 16 weeks or more recently by free fetal DNA testing. Chorion villus sampling (CVS) can be done at 1114 weeks, and has a 1% risk of miscarriage. Amniocentesis can be done after 15 weeks, and has a 0.5% risk of miscarriage. Fetal blood sampling can be done around 18 weeks.[citation needed] Another option in the case of unclear genetic test results is fetal muscle biopsy.

No cure for DMD is known, and an ongoing medical need has been recognized by regulatory authorities.[16]

Treatment is generally aimed at controlling the onset of symptoms to maximize the quality of life which can be measured using specific questionnaires,[17] and include:

Comprehensive multidisciplinary care standards/guidelines for DMD have been developed by the Centers for Disease Control and Prevention, and were published in two parts in The Lancet Neurology in 2010.[21]

Physical therapists are concerned with enabling patients to reach their maximum physical potential. Their aim is to:

Modern “volume ventilators/respirators,” which deliver an adjustable volume (amount) of air to the person with each breath, are valuable in the treatment of people with muscular dystrophy-related respiratory problems. The ventilator may require an invasive endotracheal or tracheotomy tube through which air is directly delivered, but for some people, noninvasive delivery through a face mask or mouthpiece is sufficient. Positive airway pressure machines, particularly bilevel ones, are sometimes used in this latter way. The respiratory equipment may easily fit on a ventilator tray on the bottom or back of a power wheelchair with an external battery for portability.

Ventilator treatment may start in the mid- to late teens when the respiratory muscles can begin to collapse. If the vital capacity has dropped below 40% of normal, a volume ventilator/respirator may be used during sleeping hours, a time when the person is most likely to be underventilating (hypoventilating). Hypoventilation during sleep is determined by a thorough history of sleep disorder with an oximetry study and a capillary blood gas (see pulmonary function testing).

A cough assist device can help with excess mucus in lungs by hyperinflation of the lungs with positive air pressure, then negative pressure to get the mucus up. If the vital capacity continues to decline to less than 30 percent of normal, a volume ventilator/respirator may also be needed during the day for more assistance. The person gradually will increase the amount of time using the ventilator/respirator during the day as needed. However, there are also people with the disease in their 20’s who have no need for a ventilator.[citation needed]

Duchenne muscular dystrophy is a rare progressive disease which eventually affects all voluntary muscles and involves the heart and breathing muscles in later stages. As of 2013, the life expectancy is estimated to be around 25,[6] but this varies. With excellent medical care males are often living into their 30s.[22]

In rare cases, people with DMD have been seen to survive into their forties or early fifties, with proper positioning in wheelchairs and beds, and the use of ventilator support (via tracheostomy or mouthpiece), airway clearance, and heart medications.[23] Early planning of the required supports for later-life care has shown greater longevity for people with DMD.[24]

Curiously, in the mdx mouse model of Duchenne muscular dystrophy, the lack of dystrophin is associated with increased calcium levels and skeletal muscle myonecrosis. The intrinsic laryngeal muscles (ILMs) are protected and do not undergo myonecrosis.[25] ILMs have a calcium regulation system profile suggestive of a better ability to handle calcium changes in comparison to other muscles, and this may provide a mechanistic insight for their unique pathophysiological properties.[26] The ILM may facilitate the development of novel strategies for the prevention and treatment of muscle wasting in a variety of clinical scenarios.[27]

The disease was first described by the Neapolitan physician Giovanni Semmola in 1834 and Gaetano Conte in 1836.[28][29][30] However, DMD is named after the French neurologist Guillaume-Benjamin-Amand Duchenne (18061875), who in the 1861 edition of his book Paraplegie hypertrophique de l’enfance de cause cerebrale, described and detailed the case of a boy who had this condition. A year later, he presented photos of his patient in his Album de photographies pathologiques. In 1868, he gave an account of 13 other affected children. Duchenne was the first to do a biopsy to obtain tissue from a living patient for microscopic examination.[31][32]

Alfredo Ferrari (born January 1932 in Modena), nicknamed Alfredino or Dino, was the son of Enzo Ferrari. He designed the 1.5 L DOHC V6 engine for F2 at the end of 1955. Dino never saw the engine; he died 30 June 1956 in Modena at the age of 24, before his namesake automobiles Fiat Dino and Dino (automobile) were produced.

Rapper Darius Weems had the disease and used his notoriety to raise awareness and funds for treatment.[33] He died at the age of 27. His brother also suffered from the disease until his death at age 19. Darius Goes West is a documentary that depicts his journey of growth and acceptance of having the disease. A book entitled The Revised Fundamentals of Caregiving, was released in 2012, written by Jonathan Evison. Netflix produced a film titled, The Fundamentals of Caring, in 2016 based on the novel. Both media depict a young man suffering from the disease.[citation needed]

Current research includes exon-skipping, stem cell replacement therapy, analog up-regulation, gene replacement, and supportive care to slow disease progression.[citation needed]

Antisense oligonucleotides (oligos), structural analogs of DNA, are the basis of a potential therapy for patients afflicted with DMD. The compounds allow faulty parts of the dystrophin gene to be skipped when it is transcribed to RNA for protein production, permitting a still-truncated but more functional version of the protein to be produced.[34]

Two kinds of antisense oligos, 2′-O-methyl phosphorothioate oligos (like drisapersen) and Morpholino oligos (like eteplirsen), have been tested in clinical trials for DMD and have restored some dystrophin expression in muscles of DMD patients with a particular class of DMD-causing mutations. Clinical trials are ongoing, with one oligo targeting dystrophin exon 51 (eteplirsen) approved by the US FDA.[35]

Oligo-mediated exon skipping has resulted in clinical improvement in 12 patients in a Phase 1-2a study. On a standard test, the 6-minute walk test, patients whose performance had been declining instead improved, from 385 meters to 420 meters.[36][37] DMD may result from mRNA that contains out-of-frame mutations (e.g. deletions, insertions or splice site mutations), resulting in frameshift or early termination so that in most muscle fibers no functional dystrophin is produced (though some revertant muscle fibers produce some dystrophin). In many cases an antisense oligonucleotide can be used to trigger skipping of an adjacent exon to restore the reading frame and production of partially functional dystrophin.

Patients with Becker’s muscular dystrophy, which is milder than DMD, have a form of dystrophin which is functional even though it is shorter than normal dystrophin.[38] In 1990 England et al. noticed that a patient with mild Becker muscular dystrophy was lacking 46% of his coding region for dystrophin.[38] This functional, yet truncated, form of dystrophin gave rise to the notion that shorter dystrophin can still be therapeutically beneficial. Concurrently, Kole et al. had modified splicing by targeting pre-mRNA with antisense oligonucleotides (AONs).[39] Kole demonstrated success using splice-targeted AONs to correct missplicing in cells removed from beta-thalassemia patients[40][41] Wilton’s group tested exon skipping for muscular dystrophy.[42][43] Successful preclinical research led to the current efforts to use splice-modifying oligos to change DMD dystrophin to a more functional form of dystrophin, in effect converting Duchenne MD into Becker MD.

Though AONs hold promise, one of their major pitfalls is the need for periodic redelivery into muscles. Systemic delivery on a recurring basis is being tested in humans.[44] To circumvent the requirement for periodic oligo delivery, a long-term exon-skip therapy is being explored. This therapy consists of modifying the U7 small nuclear RNA at the 5′ end of the non-translated RNA to target regions within pre-mRNA. This has been shown to work in the DMD equivalent mouse, mdx.[45]

Though stem cells isolated from the muscle (satellite cells) have the ability to differentiate into myotubes when injected directly into the muscle of animals, they lack the ability to spread systemically throughout. To effectively deliver a therapeutic dose to an isolated muscle it would require direct injections to that muscle every 2mm.[46] This problem was circumvented by using another multipotent stem cell, termed pericytes, that are located within the blood vessels of skeletal muscle. These cells have the ability to be delivered systemically and uptaken by crossing the vascular barrier. Once past the vasculature, pericytes have the ability to fuse and form myotubes.[47] This means that they can be injected arterially, crossing through arterial walls into muscle, where they can differentiate into potentially functional muscle. These findings show potential for stem cell therapy of DMD. The pericyte-derived cells would be extracted, grown in culture, and then these cells would be injected into the blood stream where the possibility exists that they might find their way into injured regions of skeletal muscle.[citation needed]

In 2014 and 2015, researchers used a new gene editing method to correct a mutation that leads to Duchenne muscular dystrophy (DMD) in a mouse model of the condition. Researchers used a technique called CRISPR/Cas9-mediated genome editing, which can precisely remove a mutation in the dystrophin gene in DNA, allowing the bodys DNA repair mechanisms to replace it with a normal copy of the gene. The benefit of this over other gene therapy techniques is that it can permanently correct the defect in a gene rather than just transiently adding a functional one.

Genome editing through the CRISPR/Cas9 system is not currently feasible in humans. However, it may be possible, through advancements in technology, to use this technique to develop therapies for DMD in the future.[48][49] In 2007, researchers did the world’s first clinical (viral-mediated) gene therapy trial for Duchenne MD.[50]

Biostrophin is a delivery vector for gene therapy in the treatment of Duchenne muscular dystrophy and Becker muscular dystrophy.[51]

While PTC124 showed promising results in mice,[52][53] the Phase II trial was suspended when participants did not show significant increases in the six-minute walk distance.[54] The Phase II trial of ACE-031 (a decoy receptor) was suspended due to safety issues.[55][56]

Safety and efficacy studies of antisense oligonucleotides for exon skipping in Duchenne muscular dystrophy with Morpholino oligos (e.g. eteplirsen)[57] and with 2′-O-methyl phosphorothioate oligos (e.g. drisapersen)[58] are in progress.

In 2011, in a study by the UK Medical Research Council and Sarepta Therapeutics (formerly known as AVI BioPharma), researchers trialled a new drug, known as Eteplirsen(AVI-4658), designed to make the body bypass genetic mutations when producing dystrophin. When given to 19 children with Duchenne muscular dystrophy, researchers found that higher doses of the drug led to an increase in dystrophin. Researchers believe that drugs which are designed to make the body skip over mutations in this way could be used to treat approximately 83% of Duchenne muscular dystrophy cases. However, the drug used in this trial only targeted mutations in a region implicated in 13% of cases. This study was conducted well and demonstrated the potential of this approach for increasing the levels of dystrophin in the short term. The trials principal aim was to work out the appropriate dosages of the drug, therefore the drugs safety profile and effects will need to be confirmed in larger, longer-term studies, particularly as patients would need to take it for the rest of their lives (or until a better treatment is available).[59]

A small study published in May 2014 in the journal Neurology showed that the erectile dysfunction drug sildenafil could improve blood flow in boys affected with Duchenne MD. A larger and longer trial of the related drug tadalafil is underway to determine if improved blood flow will translate into improved muscle function.[60]

Rimeporide, a sodiumhydrogen antiporter 1 inhibitor, is in preclinical trials as of May 2015[update].[61]

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Duchenne muscular dystrophy – Wikipedia

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Muscular dystrophy Treatments and drugs – Mayo Clinic

Posted: December 5, 2017 at 8:43 am

Diagnosis

Your doctor is likely to start with a medical history and physical examination.

After that, your doctor may recommend:

There’s no cure for any form of muscular dystrophy. But treatment can help prevent or reduce problems in the joints and spine to allow people with muscular dystrophy to remain mobile as long as possible. Treatment options include medications, physical therapy, and surgical and other procedures.

Your doctor may recommend:

Several types of therapy and assistive devices can improve quality and sometimes length of life in people who have muscular dystrophy. Examples include:

Surgery may be needed to correct a spinal curvature that could eventually make breathing more difficult.

Explore Mayo Clinic studies testing new treatments, interventions and tests as a means to prevent, detect, treat or manage this disease.

Respiratory infections may become a problem in later stages of muscular dystrophy. It’s important to be vaccinated for pneumonia and to keep up to date with influenza shots.

Dietary changes haven’t been shown to slow the progression of muscular dystrophy. But proper nutrition is essential because limited mobility can contribute to obesity, dehydration and constipation. A high-fiber, high-protein, low-calorie diet may help.

A diagnosis of muscular dystrophy can be extremely challenging. To help you cope:

You may be referred to a doctor who specializes in the diagnosis and treatment of muscular dystrophy.

Don’t hesitate to ask other questions during your appointment.

Your doctor is likely to ask you a number of questions. Being ready to answer them may make time to go over points you want to spend more time on. You may be asked:

Nov. 27, 2014

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Muscular dystrophy Treatments and drugs – Mayo Clinic

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Muscular Dystrophy Information Page | National Institute …

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Definition

The muscular dystrophies (MD) are a group of more than 30 genetic diseases characterized by progressive weakness and degeneration of the skeletal muscles that control movement. Some forms of MD are seen in infancy or childhood, while others may not appear until middle age or later. The disorders differ in terms of the distribution and extent of muscle weakness (some forms of MD also affect cardiac muscle), age of onset, rate of progression, and pattern of inheritance.DuchenneMD is the most common form of MD and primarily affects boys. It is caused by the absence of dystrophin, a protein involved in maintaining the integrity of muscle. Onset is between 3 and 5 years and the disorder progresses rapidly. Most boys are unable to walk by age 12, and later need a respirator to breathe. Girls in these families have a 50 percent chance of inheriting and passing the defective gene to their children. Boys withBeckerMD (very similar to but less severe than Duchenne MD) have faulty or not enough dystrophin.FacioscapulohumeralMD usually begins in the teenage years. It causes progressive weakness in muscles of the face, arms, legs, and around the shoulders and chest. It progresses slowly and can vary in symptoms from mild to disabling.MyotonicMD is the disorder’s most common adult form and is typified by prolonged muscle spasms, cataracts, cardiac abnormalities, and endocrine disturbances. Individuals with myotonic MD have long, thin faces, drooping eyelids, and a swan-like neck.

Definition

The muscular dystrophies (MD) are a group of more than 30 genetic diseases characterized by progressive weakness and degeneration of the skeletal muscles that control movement. Some forms of MD are seen in infancy or childhood, while others may not appear until middle age or later. The disorders differ in terms of the distribution and extent of muscle weakness (some forms of MD also affect cardiac muscle), age of onset, rate of progression, and pattern of inheritance.DuchenneMD is the most common form of MD and primarily affects boys. It is caused by the absence of dystrophin, a protein involved in maintaining the integrity of muscle. Onset is between 3 and 5 years and the disorder progresses rapidly. Most boys are unable to walk by age 12, and later need a respirator to breathe. Girls in these families have a 50 percent chance of inheriting and passing the defective gene to their children. Boys withBeckerMD (very similar to but less severe than Duchenne MD) have faulty or not enough dystrophin.FacioscapulohumeralMD usually begins in the teenage years. It causes progressive weakness in muscles of the face, arms, legs, and around the shoulders and chest. It progresses slowly and can vary in symptoms from mild to disabling.MyotonicMD is the disorder’s most common adult form and is typified by prolonged muscle spasms, cataracts, cardiac abnormalities, and endocrine disturbances. Individuals with myotonic MD have long, thin faces, drooping eyelids, and a swan-like neck.

Treatment

There is no specific treatment to stop or reverse any form of MD. Treatment may include physical therapy, respiratory therapy, speech therapy, orthopedic appliances used for support, and corrective orthopedic surgery. Drug therapy includes corticosteroids to slow muscle degeneration, anticonvulsants to control seizures and some muscle activity, immunosuppressants to delay some damage to dying muscle cells, and antibiotics to fight respiratory infections. Some individuals may benefit from occupational therapy and assistive technology. Some patients may need assisted ventilation to treat respiratory muscle weakness and a pacemaker for cardiac abnormalities.

Treatment

There is no specific treatment to stop or reverse any form of MD. Treatment may include physical therapy, respiratory therapy, speech therapy, orthopedic appliances used for support, and corrective orthopedic surgery. Drug therapy includes corticosteroids to slow muscle degeneration, anticonvulsants to control seizures and some muscle activity, immunosuppressants to delay some damage to dying muscle cells, and antibiotics to fight respiratory infections. Some individuals may benefit from occupational therapy and assistive technology. Some patients may need assisted ventilation to treat respiratory muscle weakness and a pacemaker for cardiac abnormalities.

Definition

The muscular dystrophies (MD) are a group of more than 30 genetic diseases characterized by progressive weakness and degeneration of the skeletal muscles that control movement. Some forms of MD are seen in infancy or childhood, while others may not appear until middle age or later. The disorders differ in terms of the distribution and extent of muscle weakness (some forms of MD also affect cardiac muscle), age of onset, rate of progression, and pattern of inheritance.DuchenneMD is the most common form of MD and primarily affects boys. It is caused by the absence of dystrophin, a protein involved in maintaining the integrity of muscle. Onset is between 3 and 5 years and the disorder progresses rapidly. Most boys are unable to walk by age 12, and later need a respirator to breathe. Girls in these families have a 50 percent chance of inheriting and passing the defective gene to their children. Boys withBeckerMD (very similar to but less severe than Duchenne MD) have faulty or not enough dystrophin.FacioscapulohumeralMD usually begins in the teenage years. It causes progressive weakness in muscles of the face, arms, legs, and around the shoulders and chest. It progresses slowly and can vary in symptoms from mild to disabling.MyotonicMD is the disorder’s most common adult form and is typified by prolonged muscle spasms, cataracts, cardiac abnormalities, and endocrine disturbances. Individuals with myotonic MD have long, thin faces, drooping eyelids, and a swan-like neck.

Treatment

There is no specific treatment to stop or reverse any form of MD. Treatment may include physical therapy, respiratory therapy, speech therapy, orthopedic appliances used for support, and corrective orthopedic surgery. Drug therapy includes corticosteroids to slow muscle degeneration, anticonvulsants to control seizures and some muscle activity, immunosuppressants to delay some damage to dying muscle cells, and antibiotics to fight respiratory infections. Some individuals may benefit from occupational therapy and assistive technology. Some patients may need assisted ventilation to treat respiratory muscle weakness and a pacemaker for cardiac abnormalities.

Prognosis

The prognosis for people with MD varies according to the type and progression of the disorder. Some cases may be mild and progress very slowly over a normal lifespan, while others produce severe muscle weakness, functional disability, and loss of the ability to walk. Some children with MD die in infancy while others live into adulthood with only moderate disability.

Prognosis

The prognosis for people with MD varies according to the type and progression of the disorder. Some cases may be mild and progress very slowly over a normal lifespan, while others produce severe muscle weakness, functional disability, and loss of the ability to walk. Some children with MD die in infancy while others live into adulthood with only moderate disability.

Prognosis

The prognosis for people with MD varies according to the type and progression of the disorder. Some cases may be mild and progress very slowly over a normal lifespan, while others produce severe muscle weakness, functional disability, and loss of the ability to walk. Some children with MD die in infancy while others live into adulthood with only moderate disability.

Definition

The muscular dystrophies (MD) are a group of more than 30 genetic diseases characterized by progressive weakness and degeneration of the skeletal muscles that control movement. Some forms of MD are seen in infancy or childhood, while others may not appear until middle age or later. The disorders differ in terms of the distribution and extent of muscle weakness (some forms of MD also affect cardiac muscle), age of onset, rate of progression, and pattern of inheritance.DuchenneMD is the most common form of MD and primarily affects boys. It is caused by the absence of dystrophin, a protein involved in maintaining the integrity of muscle. Onset is between 3 and 5 years and the disorder progresses rapidly. Most boys are unable to walk by age 12, and later need a respirator to breathe. Girls in these families have a 50 percent chance of inheriting and passing the defective gene to their children. Boys withBeckerMD (very similar to but less severe than Duchenne MD) have faulty or not enough dystrophin.FacioscapulohumeralMD usually begins in the teenage years. It causes progressive weakness in muscles of the face, arms, legs, and around the shoulders and chest. It progresses slowly and can vary in symptoms from mild to disabling.MyotonicMD is the disorder’s most common adult form and is typified by prolonged muscle spasms, cataracts, cardiac abnormalities, and endocrine disturbances. Individuals with myotonic MD have long, thin faces, drooping eyelids, and a swan-like neck.

Treatment

There is no specific treatment to stop or reverse any form of MD. Treatment may include physical therapy, respiratory therapy, speech therapy, orthopedic appliances used for support, and corrective orthopedic surgery. Drug therapy includes corticosteroids to slow muscle degeneration, anticonvulsants to control seizures and some muscle activity, immunosuppressants to delay some damage to dying muscle cells, and antibiotics to fight respiratory infections. Some individuals may benefit from occupational therapy and assistive technology. Some patients may need assisted ventilation to treat respiratory muscle weakness and a pacemaker for cardiac abnormalities.

Prognosis

The prognosis for people with MD varies according to the type and progression of the disorder. Some cases may be mild and progress very slowly over a normal lifespan, while others produce severe muscle weakness, functional disability, and loss of the ability to walk. Some children with MD die in infancy while others live into adulthood with only moderate disability.

What research is being done?

The NINDS supports a broad program of research studies on MD. The goals of these studies are to understand MD and to develop techniques to diagnose, treat, prevent, and ultimately cure the disorder.

The NINDS is a member of the Muscular Dystrophy Coordinating Committee (MDCC). For additional information, please visit:https://mdcc.nih.gov/

Information from the National Library of Medicines MedlinePlusMuscular Dystrophy

Patient Organizations

Centers for Disease Control and Prevention (CDC)

U.S. Department of Health and Human Services

1600 Clifton Road

Atlanta

GA

Atlanta, GA 30333

Tel: 800-311-3435; 404-639-3311; 404-639-3543

Coalition to Cure Calpain 3 (C3)

15 Compo Parkway

Westport

CT

Westport, CT 06880

Tel: 203-221-1611

Cure CMD

P.O. Box 701

Olathe

KS

Olathe, KS 66051

Tel: 424-265-0874

Facioscapulohumeral Muscular Dystrophy (FSH) Society

64 Grove Street

Watertown

MA

Watertown, MA 02472

Tel: 617-658-7877

Jain Foundation

9725 Third Avenue NE

Suite 204

Seattle

WA

Seattle, WA 98115

Tel: 425-882-1440

Muscular Dystrophy Association

National Office – 222 S. Riverside Plaza

Suite 1500

Chicago

IL

Chicago, IL 60606

Tel: 800-572-1717

Myotonic Dystrophy Foundation

1004 O’Reilly Avenue

San Francisco

CA

San Francisco, CA 94129

Tel: 86-MYOTONIC; 415-800-7777

National Institute of Arthritis and Musculoskeletal and Skin Diseases (NIAMS)

National Institutes of Health, DHHS

31 Center Dr., Rm. 4C02 MSC 2350

Bethesda

MD

Bethesda, MD 20892-2350

Tel: 301-496-8190; 877-22-NIAMS (226-4267)

National Institute of Child Health and Human Development (NICHD)

National Institutes of Health, DHHS

31 Center Drive, Rm. 2A32 MSC 2425

Bethesda

MD

Bethesda, MD 20892-2425

Tel: 301-496-5133

Parent Project Muscular Dystrophy (PPMD)

401 Hackensack Avenue, 9th Floor

Hackensack

NJ

Hackensack, NJ 07601

Tel: 800-714-KIDS (5437)

Publications

Muscular Dystrophy (MD) information sheet compiled by the National Institute of Neurological Disorders and Stroke (NINDS).

Patient Organizations

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Muscular Dystrophy Information Page | National Institute …

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Muscular Dystrophy Association – Wikipedia

Posted: December 3, 2017 at 9:43 pm

The Muscular Dystrophy Association (MDA) is an American organization which combats muscular dystrophy and diseases of the nervous system and muscular system in general by funding research, providing medical and community services, and educating health professionals and the general public. Comedian, actor, filmmaker and singer Jerry Lewis was the most popular and well known celebrity associated with MDA, whose work with the organization was known through his annual telethon that he hosted annually from 1966 to 2010 as well as his tenure as its national chairman until 2011.

Other celebrities and entertainers have supported the organization over the years, including Dean Martin, Wayne Newton, Frank Sinatra, Michael Jackson, Sammy Davis, Jr., Don Rickles, Ed McMahon, Milton Berle, Norm Crosby, Don Francisco, Aretha Franklin, Maureen McGovern and Diana Ross.[2] MDA’s national office is in Chicago, Illinois.

The organization was founded in 1950 by a group with personal connections to muscular dystrophy. Originally known as the Muscular Dystrophy Associations of America, it was renamed to its present name in the 1970s.[2]

Each year (sometimes for multiple-year stretches), a child affected by a muscle disease is chosen to be the MDA’s “National Goodwill Ambassador”, which, until the 1980s, were referred to as “poster children”. In 1952, the MDA inaugurated Michael Danna as its first Poster Child.[3] One of the most well-known ambassadors was Mattie Stepanek, the National Goodwill Ambassador from 2002 until his death in 2004, notable for his best-selling Heartsongs series of poetry books, and his appearances on The Oprah Winfrey Show and Good Morning America. More recent National Goodwill Ambassadors have been 12-year-old Bryson Foster (2012-2013) of Concord, N.C. who is affected by duchenne muscular dystrophy and 9-year-old Reagan Imhoff of New Berlin, Wisconsin.[citation needed]

Since 1954, MDA has partnered with the International Association of Fire Fighters (IAFF) for the annual Fill the Boot Drive, where firefighters around the country ask those passing to donate to MDA via one of their boots. In 2016, over 100,000 firefighters from 1,507 different IAFF locals participated, raising over $24 million.[4]

Debuting in 1966 and held annually on Labor Day weekend, the telethon was originally hosted by Jerry Lewis, who also served as the MDA’s national chairman since its inception in 1950 and hosted the show through 2010. In 2005, the MDA made the unprecedented decision to pledge $1 million of the Telethon’s money raised to Hurricane Katrina disaster relief, making the donation specifically to the Salvation Army (though the telethon also urged viewers to give to the American Red Cross). In 2008, the annual Labor Day Telethon raised a record $65,031,393.

Originally broadcast for up to 21 hours from 1966 to 2010, the event was cut back to six hours in 2011.[5] The 2011 edition of the telethon was originally announced to have been Lewis’ last as host, with him continuing his role as national chairman;[6] however, on August 3, 2011, the MDA announced that Lewis resigned as host and chairman, due to circumstances not revealed.[7] However, in 2016, one year before his death, Lewis broke a five-year silence in a video endorsing MDA’s redesigned web site and brand, declaring that the work to end muscular dystrophy be continued.

Additionally, Lewis’ support has been so ironclad over the years that children and adults assisted by MDA are referred to as Jerry’s Kids. From 2012 to 2014, the show was known as the MDA Show of Strength. In 2014, the organization announced it was discontinuing the show.[8]

Every summer, for one week, thousands of children from across the country who have been diagnosed with one of the forty-three muscle diseases covered in MDA’s program are able to attend a camp designated for only them. There is a one counselor to one camper ratio and the entire week the children, ages 617, are paired with an adult volunteer. They get to participate in fun activities and games and stay overnight. The camps are set up locally and are different weeks throughout the months of May through August. The entire camp staff are volunteer members and are required to interview and apply with good recommendations. The cost of the camp for the campers and volunteers is covered by the many fundraisers the MDA does each year.[9]

Started in 2010, the MDA Muscle Walk is an annual 1 to 3.1 mile lap event held in over 150 communities across the United States to raise money for research and patient services.[10]

MDA’s Lock-Up event stages local community leaders as “locked up” behind bars and requires a certain amount of money to “bail” them out.[10]

The Shamrock program, focused around Saint Patrick’s Day, includes over 125,000 local retail stores participating. For each donation made at the store, a green shamrock is posted inside the store.[10]

MDA targets the following muscle-affecting diseaes:[11]

The organization also targets muscle diseases due to deficiencies in carnitine and the following enzymes:[11]

The MDA supported the Newborn Screening Saves Lives Reauthorization Act of 2013 (H.R. 1281; 113th Congress), a bill that would amend the Public Health Service Act to reauthorize grant programs and other initiatives to promote expanded screening of newborns and children for heritable disorders.[12] The MDA argued that “many of the drug therapies currently under development for MDA’s community will be of most benefit if administered either presymptomatically or early in the progression of the disease. Thus, for some of the diseases in MDA’s program, the availability of a newborn screening program at the time of treatment availability presents the best opportunity for impacting optimal and potential lifesaving treatment outcomes.”[13]

The MDA supported the Paul D. Wellstone Muscular Dystrophy Community Assistance, Research and Education Amendments of 2013 (H.R. 594; 113th Congress), a bill that would amend the Public Health Service Act to revise the muscular dystrophy research program of the National Institutes of Health (NIH).[14] MDA argued that “a great deal of work still needs to be done, and increased federal support is needed to ensure that researchers can continue making progress toward finding a cure.”[15]

According to a Better Business Bureau summary released in September, 2015, the Organization:[16]

Charity Navigator, which is the largest independent evaluator of charities, gives MDA two out of four stars based on Financial, Accountability, and Transparency Performance Metrics.[17]

MDA and Lewis were once criticized by disability rights activists for their tendency to paint disabled people as, these advocates say, “pitiable victims who want and need nothing more than a big charity to take care of or cure them.”[18] Critics argue that focusing the public’s attention on medical cures to “normalize” disabled people fails to address issues like providing accessible buildings and transportation, and employment opportunities and other civil rights for the disabled.[19]

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