Category Archives: Muscular Dystrophy Treatment

A look at causes, symptoms, and care options for neuromuscular diseases, and how we're leading the way to better treatments and cures. At MDA, we take a big picture perspective across the full spectrum of neuromuscular diseases to uncover scientific and medical breakthroughs that accelerate treatments and cures. The power in our research approach is that we can often apply learnings from one disease to progress in others to bring urgently-needed answers to our families. Read MDA News to stay up-to-date on issues that matter to the MDA community. Biomarkers can provide crucial information for researchers conducting clinical trials. James Ervasti, professor in the department of biochemistry, molecular biology & biophysics at the University of Minnesota in Minneapolis, is working to develop methods of identifying non-invasive biomarkers. The FDA has approved Taro Pharmaceuticals Keveyis 50 mg tablets for primary hyperkalemic and hypokalemic periodic paralysis. MDA helps you keep up on research news, health care information and helpful daily living strategies through magazines, print and online publications, educational speakers, seminars, videos and newsletters. Our trained specialists are here to provide one-on-one support for every part of your journey. Send a message below or call us at 1-833-ASK-MDA1 (1-833-275-6321). If you live … Continue reading →

Muscular dystrophy is a term that covers a wide range of muscle-wasting conditions, many of which are progressive and carry a variety of symptoms of differing severity. There is no cure for any type of MD. But various medications and therapies can help manage symptoms or slow the progression of the disease. Many therapies are specific to one type of MD. Here is an overview of some common treatment options: Patients with MD are often prescribed corticosteroids, also called glucocorticoids. They have been shown to improve muscle strength and may slow the progression of MD. But their use can cause weight gain in the short term, brittle bones that increased the chance of fractures, cataracts, and high blood pressure over the long term. Prednisone and Emflaza (deflazacort) are examples of corticosteroids. The U.S. Food and Drug Administration has approved Emflaza for patients with a type of MD called Duchenne muscular dystrophy (DMD). Other medications are approved for other types of MD. For example, the FDA has approvedExondys 51 (eteplirsen) for the treatment of DMD caused by certain mutations. Translarna (ataluren) is a drug approved in Europe, but not in the U.S., to treat DMD caused by another type of mutation … Continue reading →

At the Muscular Dystrophy Association, we believe in living life, unlimited. Everyone has their reason to ride. And for 38 years now, Harley-Davidson has made theirs about supporting MDA. This summer, were celebrating Harley-Davidson and inviting you to pull back the throttle as we ride to Milwaukee in support of families impacted by muscular dystrophy, ALS and related diseases. Founded by a group of families in 1950, families are at the heart of everything we do today. Finding research breakthroughs across diseases to accelerate treatments & cures Caring for kids and adults from day one at MDA Care Centers Empowering families with services and support in hometowns across America Each day these freedoms are taken away from kids and adults with muscular dystrophy, ALS and related diseases that weaken muscle strength and limit mobility. Together we can change that. Whether youre looking to volunteer at a camp or a local office, organize a group of friends to fundraise, run a marathon, or advocate for the cause, the ways to get involved are endless. 180 research nearly 50,000 More than 3,800 Aug 23 2018 These new grants represent a continued commitment by MDA to fund groundbreaking research that will accelerate treatments … Continue reading →

EmeryDreifuss muscular dystrophy is a condition that mainly affects muscles used for movement, such as skeletal muscles and also affects the cardiac muscle, it is named after Alan Eglin H. Emery and Fritz E. Dreifuss.[4][5] Symptoms of EDMD begin in teenage years with toe-walking, rigid spine, face weakness, hand weakness and calf hypertrophy.[3] Among other signs/symptoms of EmeryDreifuss muscular dystrophy are:[2][6] Mutations in the EMD, LMNA, and several other genes cause the various types of EmeryDreifuss muscular dystrophy.[1] The EMD and LMNA genes provide instructions for making proteins that are components of the nuclear envelope, which surrounds the nucleus in cells. The nuclear envelope regulates the movement of molecules into and out of the nucleus, and researchers believe it may play a role in regulating the activity of certain genes.[medical citation needed] The diagnosis of EmeryDreifuss muscular dystrophy can be established via single-gene testing or genomic testing, and clinically diagnosed via the following exams/methods:[2] The types of EmeryDreifuss muscular dystrophy are distinguished by their pattern of inheritance: X-linked, autosomal dominant, and autosomal recessive.[2] The treatment (management) of EmeryDreifuss muscular dystrophy can be done via several methods, however secondary complications should be consider in terms of the progression of EDMD, therefore … Continue reading →

Nerve Growth Factor (NGF) Nerve growth factor (NGF) is a member of the neurotrophic factor (neurotrophin, NTFS) family, which can prevent the death of nerve cells and has many features of typical neurotransmitter molecules. NGF plays an important role in the development and growth of nerve cells. NGF is synthesized and secreted by tissues (corneal epithelial, endothelial, and corneal stromal cells), and it can be up-taken by sympathetic or sensory nerve endings and then transported to be stored in neuronal cell bodies where it can promote the growth and differentiation of nerve cells. NGF can exert neurotrophic effects on injured nerves and promote neurogenesis (the process of generating neurons from stem cells) that is closely related to the development and functional maintenance and repair of the central nervous system. It is also capable of promoting the regeneration of injured neurons in the peripheral nervous system, improving the pathology of neurons and protecting the nerves against hypoxia (lack of oxygen)/ischemia (lack of blood supply). Original post: Stem Cell Treatment for Muscular Dystrophy - Beike ... … Continue reading →

SMA Added to National List of Disorders to Screen for at Birth After significant collaborative work among many stakeholders in the spinal muscular atrophy (SMA) community, we are pleased to share that the Secretary of Health and Human Services, Dr. Alex Azar, has accepted the recommendation to add SMA to the Recommended Uniform Screening Panel for newborns. This is a landmark decision for the SMA community. This week, Sarepta Therapeutics announced encouraging preliminary results from a phase 1/2a gene therapy trial designed to assess the investigational drug AAVrh74.MHCK7.micro-Dystrophin in boys with Duchenne muscular dystrophy (DMD). After 90 days in the trial, the first three participants all showed robust expression of micro-dystrophin a shortened version of the protein that is absent in the muscle of those with DMD. MDA National Ambassador Justin aspires to become a researcher and is preparing now to head to college and major in bioinformatics and computational biology. Check out the story he wrote to share a few thoughts on his next exciting chapter. In the 25 years since her husbands diagnosis, Karen has seen a lot of progress on the ALS front. She is optimistic about where research is headed but still remembers what it was … Continue reading →

May 30, 2018May 30, 2018NewsShould scientists have the right to edit the genes of future generations to eliminate hundreds, if not thousands, of potential rare diseases? Or should researchers restrict their use of ... Read moreMay 30, 2018May 30, 2018NewsResearchers have generated skeletal muscle from human stem cells in the laboratory, an achievement that may advance development of treatments and tissue replacement for patients with muscular dystrophy (MD). ... Read moreMay 29, 2018May 29, 2018columns, You, Me and MD - a Column by Leah LeilaniJust eight years ago, a four-hour trip to Disneyland would barely touch me. Id go on a few rides, have a bite to eat, come home, take a nap, ... Read moreMay 29, 2018May 29, 2018NewsFinding treatments and potential cures for rare diseases is crucial, but so is the quality of patients lives a rather nebulous term that means different things to different ... Read moreMay 25, 2018May 25, 2018NewsDaiichi Sankyoannounced positive safety findings in a Phase 1/2 trialof its investigational dystrophin gene therapyDS-5141in a small group of Duchenne muscular dystrophy (DMD) patients, but noted results failed to ... Read moreMay 24, 2018NewsTwo years after approving it, the 28-member European Union will begin enforcing its General … Continue reading →

Muscular Dystrophy can be classified as the disease with inborn genetic manipulation, which damage and weaken the muscular structure and strength over the period of time. It has been observed that the people with MD, have missing or incorrect information passed by their gene during the production of an important protein known as the Dystrophin; that is required for normal muscular functions of the body such as walking, swallowing, coordination, etc. There are almost 30 different forms of Muscular Dystrophy that vary in symptoms, problems and severities. As the disease is related to muscular weakness, it can be possible that babies, teens or adults can express the muscular problems at any phase of their development. The severe form of MD, is observed in babies especially boys, who can experience the swift and severe muscle weakness and wasting; dying their late teens to early 20s. Stem Cell Treatment for Muscular Dystrophy Although, the number is still uncertain to know exactly how many people of all ages are suffering from the disease; an estimated 1 out of every 35000 males has Muscular Dystrophy. In a different study, it has been estimated that almost 29% of the men are using a wheelchair at … Continue reading →

Muscular dystrophy, hereditary disease that causes progressive weakness and degeneration of the skeletal muscles. Of the several types of muscular dystrophy, the more common are Duchenne, facioscapulohumeral, Becker, limb-girdle, and myotonic dystrophy. In all of these there is usually early evidence of degeneration and then regeneration of some muscle fibres. Those fibres that regenerate become larger than normal, and eventually the muscles are totally replaced by fibrous scar tissue and fat. Read More on This Topic muscle disease: The muscular dystrophies The muscular dystrophies are a group of hereditary disorders characterized by progressive muscular atrophy and weakness. In most varieties the muscles of the limb girdlesthe pelvic and shoulder musclesare involved. Duchenne muscular dystrophy is the most common childhood form of the disease; it occurs in one of every 3,300 male births. It is a sex-linked disorder, meaning that it strikes males almost exclusively. The disease is caused by a defective gene on the 23rd, or X, chromosome that results in the failure of the body to produce a functional muscle protein called dystrophin. Most females who carry the genetic defect are unaffected, but they have a 50 percent probability of passing the disease to each of their sons. Early … Continue reading →

Duchenne muscular dystrophy (DMD) is one of the most common and devastating types of muscular degeneration and results in progressive muscle weakness, starting at young age.1,2 A genetic disorder, DMD primarily affects boys and is characterized by loss of the protein dystrophin in muscle cells as a result of genetic mutations.3,4 The associated cell damage and uncontrolled influx of calcium leads to mitochondrial dysfunction and reduced energy production in muscle cells.5 This contributes to progressive muscle weakness and loss of muscle tissue over time including a decline in pulmonary function leading to trouble breathing.4,5 The average age at which boys will start to show symptoms of DMD is 3 to 5 years, and they are commonly unable to walk by their teenage years.1,4,6 As the disease progresses, the muscles affected include those needed for breathing (respiration),causing a problem called respiratory insufficiency that leads to worsening breathing.This means that patients with DMD suffer from a decline in respiratory function, may need support to breathe and may have more frequent lung infections.79 Other typical symptoms include a weak cough, chest infections, daytime sleepiness, headaches, suffering from nightmares, or other respiratory and pulmonary infections. See more here: Duchenne Muscular Dystrophy: Causes, Symptoms, Treatment … Continue reading →