Materiały źródłowe

• #1 Muscular dystrophy prevention, outlook, and slowing progression

  https://www.medicalnewstoday.com/articles/prevention-of-muscular-dystrophy

  A person may inherit the genetic changes responsible for muscular dystrophy. These genetic changes can also occur due to spontaneous genetic mutations. In either case, the disease is not preventable. […] Although it is not possible to prevent MD, treatments can help to slow progression. […] MD is not contagious and cannot occur due to injury or activity, so people cannot prevent it. […] MDs do not occur due to external factors, such as infection, activity levels, or injury, so they are not preventable. However, treatment can slow the progression of the disease and help prevent complications.

• #2 Muscular Dystrophy: What It Is, Symptoms, Types & Treatment

  https://my.clevelandclinic.org/health/diseases/14128-muscular-dystrophy

  As muscular dystrophy is a genetic condition, there’s nothing you can do at this time to prevent it. […] If you’re concerned about the risk of passing on muscular dystrophy or other genetic conditions before trying to have a biological child, talk to your healthcare provider about genetic counseling. In some situations, prenatal testing may be able to diagnose the condition in early pregnancy. […] If you have muscular dystrophy, there are steps you can take to try to prevent or delay complications and improve your quality of life, including: Eat a healthy diet to prevent malnutrition. Drink lots of water to avoid dehydration and constipation. Exercise as much as possible according to your healthcare team’s recommendations. Maintain a healthy weight. Quit smoking to protect your lungs and heart. Stay up to date on vaccines.

• #3 Muscular Dystrophy | Nationwide Children’s Hospital

  https://www.nationwidechildrens.org/conditions/muscular-dystrophy

  Muscular dystrophy cannot be prevented. There is no specific treatment or cure for the disease. Care of those with muscular dystrophy is mainly focused on preventing and treating its complications, and improving the quality of life of affected children. […] Each child is thoroughly evaluated and a treatment plan is determined based on their individual diagnosis and prognosis.

• #4 Duchenne Muscular Dystrophy (DMD): Symptoms & Treatment

  https://my.clevelandclinic.org/health/diseases/23538-duchenne-muscular-dystrophy-dmd

  As Duchenne muscular dystrophy (DMD) is an inherited condition, theres nothing you can do to prevent it. About a third of cases happen randomly without a family history of the condition. […] If youre concerned about the risk of passing on DMD or other genetic conditions before trying to have a biological child, talk to your healthcare provider about genetic counseling. In some situations, prenatal testing may be able to diagnose DMD in early pregnancy.

• #5 Content – Health Encyclopedia – University of Rochester Medical Center

  https://www.urmc.rochester.edu/encyclopedia/content?contenttypeid=160&contentid=117

  Because DMD is a genetic disorder, you cant do much to prevent it. But if DMD runs in your family, you may consider talking with a genetic counselor and getting testing before having children. If you or your partner has the DMD gene, you may decide to check your fertilized eggs and implant only those that do not have DMD. If you or your partner recently got pregnant, you can also choose to test the fluid outside the fetus to see if the fetus has DMD.

• #6 Muscular dystrophy: MedlinePlus Medical EncyclopediaLock

  https://medlineplus.gov/ency/article/001190.htm

  Genetic counseling is advised when there is a personal or family history of MD. Women may have no symptoms, but still carry the gene for the disorder. Duchenne muscular dystrophy can be detected with about 95% accuracy by genetic studies done during pregnancy.

• #7 Muscular dystrophy: MedlinePlus Medical EncyclopediaLock

  https://medlineplus.gov/ency/article/001190.htm

  Genetic counseling is advised when there is a personal or family history of MD. Women may have no symptoms, but still carry the gene for the disorder. Duchenne muscular dystrophy can be detected with about 95% accuracy by genetic studies done during pregnancy.

• #8 Content – Health Encyclopedia – University of Rochester Medical Center

  https://www.urmc.rochester.edu/encyclopedia/content?contenttypeid=160&contentid=117

  Because DMD is a genetic disorder, you cant do much to prevent it. But if DMD runs in your family, you may consider talking with a genetic counselor and getting testing before having children. If you or your partner has the DMD gene, you may decide to check your fertilized eggs and implant only those that do not have DMD. If you or your partner recently got pregnant, you can also choose to test the fluid outside the fetus to see if the fetus has DMD.

• #9 Comprehensive genetic analysis of 961 unrelated Duchenne Muscular Dystrophy patients: Focus on diagnosis, prevention and therapeutic possibilities | PLOS One

  https://journals.plos.org/plosone/article?id=10.1371/journal.pone.0232654

  Recently DNA sequencing analysis has played a vital role in the unambiguous diagnosis of clinically suspected patients with Duchenne Muscular Dystrophy (DMD). […] Early and precise diagnosis of the disease is an essential part of an effective disease management strategy as care guidelines and prevention through counseling need to be initiated at the earliest particularly since therapies are now available for a subset of patients. […] Given that the burden of care for DMD patients invariably falls on the mothers, particularly in rural India, effective genetic counseling followed by carrier screening is crucial for prevention of this disorder. […] Our comprehensive efforts, involving complete genetic testing coupled with compassionate genetic counseling provided to DMD patients and their families, are intended to improve the quality of life of DMD patients and to empower carrier females to make informed reproductive choices to impede the propagation of this deadly disease.

• #10

  https://link.springer.com/article/10.1007/BF00275183

  DMD is an incurable disease; therefore most effort, in research as well as in practical medicine, is concentrated upon its prevention. […] Unfortunately the disease cannot yet be diagnosed prenatally. Potential DMD carriers among female relatives of the patients may be identified by pathological heterozygote tests, of which determination of serum CK activity is probably still the most reliable method, allowing the detection of about 70% of adult and probably up to 90% of carriers at school age. […] Finally, it is believed that the two most important preventive problems in DMD, carrier detection and prenatal diagnosis, will ultimately be solved by means of the rapidly advancing DNA technology.

• #11 Comprehensive genetic analysis of 961 unrelated Duchenne Muscular Dystrophy patients: Focus on diagnosis, prevention and therapeutic possibilities | PLOS One

  https://journals.plos.org/plosone/article?id=10.1371/journal.pone.0232654

  Recently DNA sequencing analysis has played a vital role in the unambiguous diagnosis of clinically suspected patients with Duchenne Muscular Dystrophy (DMD). […] Early and precise diagnosis of the disease is an essential part of an effective disease management strategy as care guidelines and prevention through counseling need to be initiated at the earliest particularly since therapies are now available for a subset of patients. […] Given that the burden of care for DMD patients invariably falls on the mothers, particularly in rural India, effective genetic counseling followed by carrier screening is crucial for prevention of this disorder. […] Our comprehensive efforts, involving complete genetic testing coupled with compassionate genetic counseling provided to DMD patients and their families, are intended to improve the quality of life of DMD patients and to empower carrier females to make informed reproductive choices to impede the propagation of this deadly disease.

• #12 Comprehensive genetic analysis of 961 unrelated Duchenne Muscular Dystrophy patients: Focus on diagnosis, prevention and therapeutic possibilities | PLOS One

  https://journals.plos.org/plosone/article?id=10.1371/journal.pone.0232654

  In the absence of curative treatment options, the early diagnosis of patients with suspected DMD is vital to implementing effective disease management strategies, keeping the quality of life of the patient in mind. In this regard, genetic counseling for patients and their families must be emphasized. […] Our data suggest that this rare non-contiguous DMD gene mutation is causative of familial DMD in affected males and could be traced to carrier females in this pedigree. […] Our study has demonstrated that the power of mutational analysis coupled with genetic counseling can provide DMD carrier mothers with the opportunity to make informed family planning decisions to prevent the birth of subsequent DMD positive offspring.

• #13

  https://continentalhospitals.com/diseases/muscular-dystrophy/

  Prevention plays a crucial role in addressing muscular dystrophy, a group of genetic disorders characterized by progressive muscle weakness and degeneration. While there is currently no cure for muscular dystrophy, taking proactive measures to prevent its onset or delay its progression can significantly improve the quality of life for individuals affected by this condition. One key aspect of prevention is early detection. Regular medical check-ups and genetic testing can help identify individuals who may be at risk or carry the gene mutations associated with muscular dystrophy. By identifying these individuals early on, healthcare professionals can provide appropriate counseling, guidance, and support to manage the condition effectively. […] Another important aspect of prevention is adopting a healthy lifestyle. Engaging in regular physical activity, maintaining a balanced diet, and avoiding harmful habits such as smoking or excessive alcohol consumption can contribute to overall muscle health and reduce the risk of developing muscular dystrophy. Furthermore, staying informed about advancements in medical research and treatment options is crucial for prevention efforts. As scientific understanding of muscular dystrophy continues to evolve, new preventive strategies may emerge. By staying up-to-date with the latest developments in this field, individuals at risk or with a family history of muscular dystrophy can make informed decisions about their health and seek appropriate interventions when necessary.

• #14 Muscular Dystrophy: What It Is, Symptoms, Types & Treatment

  https://my.clevelandclinic.org/health/diseases/14128-muscular-dystrophy

  As muscular dystrophy is a genetic condition, there’s nothing you can do at this time to prevent it. […] If you’re concerned about the risk of passing on muscular dystrophy or other genetic conditions before trying to have a biological child, talk to your healthcare provider about genetic counseling. In some situations, prenatal testing may be able to diagnose the condition in early pregnancy. […] If you have muscular dystrophy, there are steps you can take to try to prevent or delay complications and improve your quality of life, including: Eat a healthy diet to prevent malnutrition. Drink lots of water to avoid dehydration and constipation. Exercise as much as possible according to your healthcare team’s recommendations. Maintain a healthy weight. Quit smoking to protect your lungs and heart. Stay up to date on vaccines.

• #15 Early preventive heart treatment extends survival in DMD: StudyEnvelope icon

  https://musculardystrophynews.com/news/early-preventive-heart-treatment-extends-survival-dmd-study/

  Preventive treatment with standard heart medications — when given before the onset of cardiac troubles — extends survival among males with Duchenne muscular dystrophy (DMD), according to data from the U.S.-based Muscular Dystrophy Surveillance, Tracking and Research Network, known as MD STARnet. […] However, despite finding such benefits with prophylactic, or preventive, heart treatments, a team of U.S. researchers also determined that just 1 in 4 DMD patients in the country was prescribed such medication. […] “The findings support delay of [heart muscle disease] as a significant contributor to prolonged survival and provide additional strong support for current recommendations to initiate prophylactic cardiac medication before [heart problems],” the researchers wrote. […] Current recommendations for treating heart problems in DMD include starting heart medicines — specifically ones that lower blood pressure — by age 10. This is intended to delay the onset or slow the progression of cardiomyopathy.

• #16 Early preventive heart treatment extends survival in DMD: StudyEnvelope icon

  https://musculardystrophynews.com/news/early-preventive-heart-treatment-extends-survival-dmd-study/

  Preventive treatment with standard heart medications — when given before the onset of cardiac troubles — extends survival among males with Duchenne muscular dystrophy (DMD), according to data from the U.S.-based Muscular Dystrophy Surveillance, Tracking and Research Network, known as MD STARnet. […] However, despite finding such benefits with prophylactic, or preventive, heart treatments, a team of U.S. researchers also determined that just 1 in 4 DMD patients in the country was prescribed such medication. […] “The findings support delay of [heart muscle disease] as a significant contributor to prolonged survival and provide additional strong support for current recommendations to initiate prophylactic cardiac medication before [heart problems],” the researchers wrote. […] Current recommendations for treating heart problems in DMD include starting heart medicines — specifically ones that lower blood pressure — by age 10. This is intended to delay the onset or slow the progression of cardiomyopathy.

• #17 Early preventive heart treatment extends survival in DMD: StudyEnvelope icon

  https://musculardystrophynews.com/news/early-preventive-heart-treatment-extends-survival-dmd-study/

  Preventive heart medications given before LVD extended survival in DMD because treated patients lived longer than untreated patients (median 26.4 vs. 23.3 years), according to the study. […] Despite the compelling evidence of the benefit of prophylaxis in delaying [heart muscle disease], prophylactic use of cardiac medications in the United States has not been widely adopted. […] The researchers noted, however, that “despite the compelling evidence of the benefit of prophylaxis in delaying cardiomyopathy, prophylactic use of cardiac medications in the United States has not been widely adopted.” The study noted that “only one-quarter of individuals received [preventive] treatment.” […] According to the team, these finding “[indicate] a topic of focus for improving care.”

• #18 Early preventive heart treatment extends survival in DMD: StudyEnvelope icon

  https://musculardystrophynews.com/news/early-preventive-heart-treatment-extends-survival-dmd-study/

  Preventive heart medications given before LVD extended survival in DMD because treated patients lived longer than untreated patients (median 26.4 vs. 23.3 years), according to the study. […] Despite the compelling evidence of the benefit of prophylaxis in delaying [heart muscle disease], prophylactic use of cardiac medications in the United States has not been widely adopted. […] The researchers noted, however, that “despite the compelling evidence of the benefit of prophylaxis in delaying cardiomyopathy, prophylactic use of cardiac medications in the United States has not been widely adopted.” The study noted that “only one-quarter of individuals received [preventive] treatment.” […] According to the team, these finding “[indicate] a topic of focus for improving care.”

• #19 Duchenne Muscular Dystrophy | Pediatric Orthopaedic Society of North America (POSNA)

  https://posna.org/physician-education/study-guide/duchenne-muscular-dystrophy

  Corticosteroid therapy may prolong life and delay loss of ambulation […] There is some evidence that corticosteroid therapy may prolong ambulation, prevent/delay scoliosis development and progression, and prolong life expectancy. […] The mechanism by which corticosteroids delay functional decline is unknown but it is thought to involve inhibition of the inflammation and scarring associated with the breakdown of muscle tissue. […] Physical Therapy has a positive role in maintaining strength and slowing the development of contractures. […] Orthotic Management Lower Extremity FOs and later locking KAFOs will support and may prolong ambulation. […] Spinal orthosis or molded wheelchair seats may delay progression of scoliosis but fusion is usually indicated in progressive curves. […] Progressive contractures may be improved with tendon lengthening but recurrence rates may be high. […] Scoliosis should be addressed early with posterior spinal instrumentation and fusion, often recommended when the Cobb angle reaches 20-30 degrees. […] Earlier fusion is recommended to avoid pulmonary functional decline and risks associated with more advanced cardiomyopathy.

• #20 Duchenne Muscular Dystrophy | Pediatric Orthopaedic Society of North America (POSNA)

  https://posna.org/physician-education/study-guide/duchenne-muscular-dystrophy

  Corticosteroid therapy may prolong life and delay loss of ambulation […] There is some evidence that corticosteroid therapy may prolong ambulation, prevent/delay scoliosis development and progression, and prolong life expectancy. […] The mechanism by which corticosteroids delay functional decline is unknown but it is thought to involve inhibition of the inflammation and scarring associated with the breakdown of muscle tissue. […] Physical Therapy has a positive role in maintaining strength and slowing the development of contractures. […] Orthotic Management Lower Extremity FOs and later locking KAFOs will support and may prolong ambulation. […] Spinal orthosis or molded wheelchair seats may delay progression of scoliosis but fusion is usually indicated in progressive curves. […] Progressive contractures may be improved with tendon lengthening but recurrence rates may be high. […] Scoliosis should be addressed early with posterior spinal instrumentation and fusion, often recommended when the Cobb angle reaches 20-30 degrees. […] Earlier fusion is recommended to avoid pulmonary functional decline and risks associated with more advanced cardiomyopathy.

• #21 Muscular Dystrophy: Options for Complication Management

  https://www.uspharmacist.com/article/muscular-dystrophy-options-for-complication-management

  To date, there is no definitive cure for any of the MDs. Treatment revolves largely around managing and/or preventing disease complications to improve muscle strength, survival, and quality of life. […] Given the high prevalence of death from cardiovascular (CV) causes in DMD, mortality improvement and delaying progression of CV diseases have been researched extensively. […] Because of pulmonary compromise late in the disease course, all patients with MD should be appropriately vaccinated against influenza and pneumococcus. To promote increased bone density, calcium and vitamin D should be given. Currently, there is no evidence supporting the prophylactic use of bisphosphonates.

• #22 Patient education: Overview of muscular dystrophies (Beyond the Basics) – UpToDate

  https://www.uptodate.com/contents/overview-of-muscular-dystrophies-beyond-the-basics

  Preventing and treating complications of DMD — Early identification of children who are affected by DMD is important to prevent complications and prolong life. Recommendations for managing and preventing problems in these children include: […] Pneumococcal vaccine (given once) to help prevent pneumonia, and annual influenza vaccine for children six months of age and older. […] Screening (usually by echocardiography or cardiac magnetic resonance imaging [MRI]) and early treatment for cardiomyopathy, starting at the time of diagnosis or at around age six years. Female carriers may be screened beginning in the teens. […] Lung treatment while sleeping (nocturnal noninvasive ventilation) or respiratory assistance during periods of lung infection is recommended. Lung function testing should begin around age 9 or 10 years, before the child requires a wheelchair, and should be repeated several times per year when lung function worsens or the child requires a wheelchair.

• #23 Physical Therapy for Muscular Dystrophy | Med Diagnostics Rehab

  https://www.meddiagnosticrehab.co/physical-therapy-for-muscular-dystrophy.php

  Physical therapy can help to prevent deformities, increase mobility, and keep muscles strong and flexible in patients with muscular dystrophy. […] Treatment for muscular dystrophy may include medication such as corticosteroids, to help improve muscle strength and slow the progression of muscle weakness. […] A physical therapy program may include: Passive stretching to increase joint flexibility and prevent contractures, Range of motion exercises to increase muscle strength, Exercises to prevent muscle atrophy, Deep breathing exercises to keep the lungs fully expanded, Electrical muscle stimulation.

• #24 Physical Therapy for Muscular Dystrophy | Med Diagnostics Rehab

  https://www.meddiagnosticrehab.co/physical-therapy-for-muscular-dystrophy.php

  Physical therapy can help to prevent deformities, increase mobility, and keep muscles strong and flexible in patients with muscular dystrophy. […] Treatment for muscular dystrophy may include medication such as corticosteroids, to help improve muscle strength and slow the progression of muscle weakness. […] A physical therapy program may include: Passive stretching to increase joint flexibility and prevent contractures, Range of motion exercises to increase muscle strength, Exercises to prevent muscle atrophy, Deep breathing exercises to keep the lungs fully expanded, Electrical muscle stimulation.

• #25 Duchenne Muscular Dystrophy | Pediatric Orthopaedic Society of North America (POSNA)

  https://posna.org/physician-education/study-guide/duchenne-muscular-dystrophy

  Corticosteroid therapy may prolong life and delay loss of ambulation […] There is some evidence that corticosteroid therapy may prolong ambulation, prevent/delay scoliosis development and progression, and prolong life expectancy. […] The mechanism by which corticosteroids delay functional decline is unknown but it is thought to involve inhibition of the inflammation and scarring associated with the breakdown of muscle tissue. […] Physical Therapy has a positive role in maintaining strength and slowing the development of contractures. […] Orthotic Management Lower Extremity FOs and later locking KAFOs will support and may prolong ambulation. […] Spinal orthosis or molded wheelchair seats may delay progression of scoliosis but fusion is usually indicated in progressive curves. […] Progressive contractures may be improved with tendon lengthening but recurrence rates may be high. […] Scoliosis should be addressed early with posterior spinal instrumentation and fusion, often recommended when the Cobb angle reaches 20-30 degrees. […] Earlier fusion is recommended to avoid pulmonary functional decline and risks associated with more advanced cardiomyopathy.

• #26 Duchenne Muscular Dystrophy Prevention And Treatment

  https://www.physioinq.com.au/blog/duchenne-muscular-dystrophy-prevention-treatment

  Muscular dystrophy treatment varies widely and since there’s no cure, preventative measures are really only management tools to put off its detrimental effects for as long as possible. […] These treatment options can help prevent or reduce issues in the joints and spine versus focusing on the muscles themselves. This helps those suffering from DMD to remain as mobile as possible for as long as possible. […] Exercise (active and passive) is an important aspect in the management of DMD. Up to the age of approximately 8yrs, boys may participate in usual physical activity. However, it is important not to over-exert (exercise to the point of exhaustion) as too much exercise, or the wrong type of exercise may cause additional muscle damage. […] Passive exercise or assisted stretching should be established as early as possible. Exercise programs developed by Exercise Physiologists and Physiotherapists aim to prevent (as much as possible) the shortening of muscles or contracture; which can limit movement of joints. […] It is important to remember that DMD is a progressive disease, therefore maintaining the participants current levels of function remains very beneficial for them and could possibly help to prolong their life.

• #27 Duchenne Muscular Dystrophy Prevention And Treatment

  https://www.physioinq.com.au/blog/duchenne-muscular-dystrophy-prevention-treatment

  Muscular dystrophy treatment varies widely and since there’s no cure, preventative measures are really only management tools to put off its detrimental effects for as long as possible. […] These treatment options can help prevent or reduce issues in the joints and spine versus focusing on the muscles themselves. This helps those suffering from DMD to remain as mobile as possible for as long as possible. […] Exercise (active and passive) is an important aspect in the management of DMD. Up to the age of approximately 8yrs, boys may participate in usual physical activity. However, it is important not to over-exert (exercise to the point of exhaustion) as too much exercise, or the wrong type of exercise may cause additional muscle damage. […] Passive exercise or assisted stretching should be established as early as possible. Exercise programs developed by Exercise Physiologists and Physiotherapists aim to prevent (as much as possible) the shortening of muscles or contracture; which can limit movement of joints. […] It is important to remember that DMD is a progressive disease, therefore maintaining the participants current levels of function remains very beneficial for them and could possibly help to prolong their life.

• #28 Duchenne Muscular Dystrophy | Pediatric Orthopaedic Society of North America (POSNA)

  https://posna.org/physician-education/study-guide/duchenne-muscular-dystrophy

  Corticosteroid therapy may prolong life and delay loss of ambulation […] There is some evidence that corticosteroid therapy may prolong ambulation, prevent/delay scoliosis development and progression, and prolong life expectancy. […] The mechanism by which corticosteroids delay functional decline is unknown but it is thought to involve inhibition of the inflammation and scarring associated with the breakdown of muscle tissue. […] Physical Therapy has a positive role in maintaining strength and slowing the development of contractures. […] Orthotic Management Lower Extremity FOs and later locking KAFOs will support and may prolong ambulation. […] Spinal orthosis or molded wheelchair seats may delay progression of scoliosis but fusion is usually indicated in progressive curves. […] Progressive contractures may be improved with tendon lengthening but recurrence rates may be high. […] Scoliosis should be addressed early with posterior spinal instrumentation and fusion, often recommended when the Cobb angle reaches 20-30 degrees. […] Earlier fusion is recommended to avoid pulmonary functional decline and risks associated with more advanced cardiomyopathy.

• #29 Duchenne Muscular Dystrophy | Pediatric Orthopaedic Society of North America (POSNA)

  https://posna.org/physician-education/study-guide/duchenne-muscular-dystrophy

  Corticosteroid therapy may prolong life and delay loss of ambulation […] There is some evidence that corticosteroid therapy may prolong ambulation, prevent/delay scoliosis development and progression, and prolong life expectancy. […] The mechanism by which corticosteroids delay functional decline is unknown but it is thought to involve inhibition of the inflammation and scarring associated with the breakdown of muscle tissue. […] Physical Therapy has a positive role in maintaining strength and slowing the development of contractures. […] Orthotic Management Lower Extremity FOs and later locking KAFOs will support and may prolong ambulation. […] Spinal orthosis or molded wheelchair seats may delay progression of scoliosis but fusion is usually indicated in progressive curves. […] Progressive contractures may be improved with tendon lengthening but recurrence rates may be high. […] Scoliosis should be addressed early with posterior spinal instrumentation and fusion, often recommended when the Cobb angle reaches 20-30 degrees. […] Earlier fusion is recommended to avoid pulmonary functional decline and risks associated with more advanced cardiomyopathy.

• #30 Patient education: Overview of muscular dystrophies (Beyond the Basics) – UpToDate

  https://www.uptodate.com/contents/overview-of-muscular-dystrophies-beyond-the-basics

  Preventing and treating complications of DMD — Early identification of children who are affected by DMD is important to prevent complications and prolong life. Recommendations for managing and preventing problems in these children include: […] Pneumococcal vaccine (given once) to help prevent pneumonia, and annual influenza vaccine for children six months of age and older. […] Screening (usually by echocardiography or cardiac magnetic resonance imaging [MRI]) and early treatment for cardiomyopathy, starting at the time of diagnosis or at around age six years. Female carriers may be screened beginning in the teens. […] Lung treatment while sleeping (nocturnal noninvasive ventilation) or respiratory assistance during periods of lung infection is recommended. Lung function testing should begin around age 9 or 10 years, before the child requires a wheelchair, and should be repeated several times per year when lung function worsens or the child requires a wheelchair.

• #31 Patient education: Overview of muscular dystrophies (Beyond the Basics) – UpToDate

  https://www.uptodate.com/contents/overview-of-muscular-dystrophies-beyond-the-basics

  Preventing and treating complications of DMD — Early identification of children who are affected by DMD is important to prevent complications and prolong life. Recommendations for managing and preventing problems in these children include: […] Pneumococcal vaccine (given once) to help prevent pneumonia, and annual influenza vaccine for children six months of age and older. […] Screening (usually by echocardiography or cardiac magnetic resonance imaging [MRI]) and early treatment for cardiomyopathy, starting at the time of diagnosis or at around age six years. Female carriers may be screened beginning in the teens. […] Lung treatment while sleeping (nocturnal noninvasive ventilation) or respiratory assistance during periods of lung infection is recommended. Lung function testing should begin around age 9 or 10 years, before the child requires a wheelchair, and should be repeated several times per year when lung function worsens or the child requires a wheelchair.

• #32 Patient education: Overview of muscular dystrophies (Beyond the Basics) – UpToDate

  https://www.uptodate.com/contents/overview-of-muscular-dystrophies-beyond-the-basics

  Bone density should be maintained to reduce the risk of fractures by ensuring that the child has a diet rich in calcium and vitamin D. […] Physical therapy can help to maintain muscle function and prevent joint stiffening (contractures). […] Leg braces can assist with standing and walking. […] Surgery can help correct joint contractures, especially at the ankle. […] Scoliosis, or curvature of the spine, is a common complication of DMD. When severe, it can cause breathing problems, so that surgical treatment may be necessary. Spinal fusion operations have been very effective in correcting deformities and maintaining an upright sitting position in a wheelchair. In less severe cases, braces may be effective.

• #33 Muscular Dystrophy: Options for Complication Management

  https://www.uspharmacist.com/article/muscular-dystrophy-options-for-complication-management

  To date, there is no definitive cure for any of the MDs. Treatment revolves largely around managing and/or preventing disease complications to improve muscle strength, survival, and quality of life. […] Given the high prevalence of death from cardiovascular (CV) causes in DMD, mortality improvement and delaying progression of CV diseases have been researched extensively. […] Because of pulmonary compromise late in the disease course, all patients with MD should be appropriately vaccinated against influenza and pneumococcus. To promote increased bone density, calcium and vitamin D should be given. Currently, there is no evidence supporting the prophylactic use of bisphosphonates.

• #34 Muscular Dystrophy Treatment: Physical Therapy, Surgery, and More

  https://www.everydayhealth.com/genetic-diseases/how-is-muscular-dystrophy-treated-physical-therapy-surgery-medication-and-more/

  Theres no cure for muscular dystrophy, although certain treatments can help control some symptoms and reduce the risk of complications, regardless of your age at diagnosis or what type of muscular dystrophy you have. […] In general, although dietary changes cant slow the progression of muscular dystrophy, a healthy diet is essential for overall health. Limited mobility from muscle weakness can cause you or your child to gain weight, become dehydrated, and experience constipation. A well-balanced diet that is high-fiber, high-protein, and low-calorie can help offset these issues. […] The goal of muscular dystrophy treatment is to help people with the condition manage its symptoms and potentially slow the progression of the disease. This allows people with muscular dystrophy to remain mobile, independent, and relatively healthy longer. […] Research is ongoing into other treatment methods, such as gene replacement, stem cell injections, and gene modification. The hope is that in the future, these methods could reverse the muscle damage that muscular dystrophy causes.

• #35 Prevention of muscular dystrophy in mice by CRISPR/Cas9–mediated editing of germline DNA

  https://pmc.ncbi.nlm.nih.gov/articles/PMC4398027/

  Our results show that CRISPR/Cas9mediated genomic editing is capable of correcting the primary genetic lesion responsible for muscular dystrophy (DMD) and preventing development of characteristic features of this disease in mdx mice. […] Because genome editing in the germ line produced genetically corrected animals with a wide range of mosaicism (2 to 100%), we were able to compare the percentage of genomic correction with the extent of rescue of normal muscle structure and function. […] We propose that the latter type of myofiber arises from the recruitment of corrected satellite cells into damaged myofibers, forming mosaic myo-fibers with centralized nuclei. […] Thus, direct editing of satellite cells in vivo by the CRISPR/Cas9 system represents a potentially promising alternative approach to promote muscle repair in DMD.

• #36 Prevention of muscular dystrophy in mice by CRISPR/Cas9–mediated editing of germline DNA

  https://pmc.ncbi.nlm.nih.gov/articles/PMC4398027/

  Genomic editing within the germ line is not currently feasible in humans. […] However, genomic editing could, in principle, be envisioned within postnatal cells in vivo if certain technical challenges could be overcome. […] Despite the challenges listed above, with rapid technological advances of gene delivery systems and improvements to the CRISPR/Cas9 editing system, the approach we describe could ultimately offer therapeutic benefit to DMD and other human genetic diseases in the future.

• #37 Muscular Dystrophy Treatment: Physical Therapy, Surgery, and More

  https://www.everydayhealth.com/genetic-diseases/how-is-muscular-dystrophy-treated-physical-therapy-surgery-medication-and-more/

  Theres no cure for muscular dystrophy, although certain treatments can help control some symptoms and reduce the risk of complications, regardless of your age at diagnosis or what type of muscular dystrophy you have. […] In general, although dietary changes cant slow the progression of muscular dystrophy, a healthy diet is essential for overall health. Limited mobility from muscle weakness can cause you or your child to gain weight, become dehydrated, and experience constipation. A well-balanced diet that is high-fiber, high-protein, and low-calorie can help offset these issues. […] The goal of muscular dystrophy treatment is to help people with the condition manage its symptoms and potentially slow the progression of the disease. This allows people with muscular dystrophy to remain mobile, independent, and relatively healthy longer. […] Research is ongoing into other treatment methods, such as gene replacement, stem cell injections, and gene modification. The hope is that in the future, these methods could reverse the muscle damage that muscular dystrophy causes.

• #38 New treatment against Duchenne muscular dystrophy | European Medicines Agency (EMA)

  https://www.ema.europa.eu/en/news/new-treatment-against-duchenne-muscular-dystrophy

  There is no cure for DMD and treatment is centred on corticosteroid therapy, prevention of contractures, and medical care of the heart and respiratory function. […] In order to confirm the efficacy of Duvyzat, the company has been requested to conduct a randomised, placebo-controlled study in ambulant DMD patients and a post-authorisation efficacy and safety study based on data from a patient registry of children with DMD six years and older treated with givinostat.

• #39 Muscular Dystrophy: What It Is, Symptoms, Types & Treatment

  https://my.clevelandclinic.org/health/diseases/14128-muscular-dystrophy

  As muscular dystrophy is a genetic condition, there’s nothing you can do at this time to prevent it. […] If you’re concerned about the risk of passing on muscular dystrophy or other genetic conditions before trying to have a biological child, talk to your healthcare provider about genetic counseling. In some situations, prenatal testing may be able to diagnose the condition in early pregnancy. […] If you have muscular dystrophy, there are steps you can take to try to prevent or delay complications and improve your quality of life, including: Eat a healthy diet to prevent malnutrition. Drink lots of water to avoid dehydration and constipation. Exercise as much as possible according to your healthcare team’s recommendations. Maintain a healthy weight. Quit smoking to protect your lungs and heart. Stay up to date on vaccines.

• #40 Muscular Dystrophy: Symptoms & Causes | NewYork-Presbyterian

  https://www.nyp.org/neuro/neuromuscular-disorders/muscular-dystrophy

  Muscular Dystrophy Prevention […] Unfortunately, there is no way to prevent muscular dystrophy. However, in conjunction with treatment options, living a healthy lifestyle can improve your quality of life with the disease. Maintain a healthy diet, do not smoke or drink alcohol, drink lots of water, and maintain a healthy weight to give yourself the best chances of effective treatment.

• #41 Duchenne Muscular Dystrophy Prevention And Treatment

  https://www.physioinq.com.au/blog/duchenne-muscular-dystrophy-prevention-treatment

  Muscular dystrophy treatment varies widely and since there’s no cure, preventative measures are really only management tools to put off its detrimental effects for as long as possible. […] These treatment options can help prevent or reduce issues in the joints and spine versus focusing on the muscles themselves. This helps those suffering from DMD to remain as mobile as possible for as long as possible. […] Exercise (active and passive) is an important aspect in the management of DMD. Up to the age of approximately 8yrs, boys may participate in usual physical activity. However, it is important not to over-exert (exercise to the point of exhaustion) as too much exercise, or the wrong type of exercise may cause additional muscle damage. […] Passive exercise or assisted stretching should be established as early as possible. Exercise programs developed by Exercise Physiologists and Physiotherapists aim to prevent (as much as possible) the shortening of muscles or contracture; which can limit movement of joints. […] It is important to remember that DMD is a progressive disease, therefore maintaining the participants current levels of function remains very beneficial for them and could possibly help to prolong their life.

• #42 Muscular Dystrophy: Symptoms & Causes | NewYork-Presbyterian

  https://www.nyp.org/neuro/neuromuscular-disorders/muscular-dystrophy

  Muscular Dystrophy Prevention […] Unfortunately, there is no way to prevent muscular dystrophy. However, in conjunction with treatment options, living a healthy lifestyle can improve your quality of life with the disease. Maintain a healthy diet, do not smoke or drink alcohol, drink lots of water, and maintain a healthy weight to give yourself the best chances of effective treatment.

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