Category Archives: Muscular Dystrophy Treatment

PETALING JAYA - In 1999, a young boy named Albert Wong captured the nation's attention through the pages of this newspaper. Albert suffered from the muscular dystrophy condition known as Duchenne Muscular Dystrophy (DMD). The disease is due to a genetic defect which prevents or slows down the formation of dystrophin in the muscle cells, without which the cells will degenerate. At that time, there was a pioneering treatment option in the United States, and through the support of The Star's readers, more than RM500,000 (S$190,000) was raised to give Albert a chance in life. People from all walks of life, especially students, rose to the occasion and did their own fund-raising activities for this good cause. Although the treatment did not work, Albert persevered, and readers were kept posted on his developments through the years. Over the years, Albert showed what a disabled person could achieve with true grit and determination. He had, by circumstances more than by choice, become a public celebrity of sorts. Albert passed away peacefully at his home in Taman Megah, Petaling Jaya, yesterday morning. He would have turned 26 on July 21 this year. The day before, he had just completed his final 500-word … Continue reading →

Patients with muscular dystrophy suffer from impairment of the gene that produces dystrophin, which is a protein that maintains muscle cells' performance. A team of researchers from the Washington University School of Medicine in St. Louis has now found that another factor might also play a role in the weakened muscles: the cells aren't properly recycling their waste. And they have a way to fight it. Cells that don't properly perform this process of autophagy--essentially the cell's garbage disposal system--can become clogged with their own waste. So the researchers have brought nanoparticles into the picture to deliver an immunosuppressive drug that has been shown to improve the cells' ability to do so. The nanoparticle is a perfluorocarbon core that was originally designed as a blood substitute, according to the university, and the team coated the surface of the vehicle with the immunosuppressive rapamycin, an anti-inflammatory that has shown recently to activate autophagy. Because these nanoparticles accumulate in areas of inflammation, they are efficiently targeted toward the affected muscle cells. "Some investigators are looking for ways to replace dystrophin," author Conrad Weihl said in a statement. "But here we are focusing on the defect in autophagy. What is exciting about our … Continue reading →

Contact Information Available for logged-in reporters only Newswise Researchers at Washington University School of Medicine in St. Louis have demonstrated a new approach to treating muscular dystrophy. Mice with a form of this muscle-weakening disease showed improved strength and heart function when treated with nanoparticles loaded with rapamycin, an immunosuppressive drug recently found to improve recycling of cellular waste. The study appears online in The FASEB Journal. The investigators, including first author Kristin P. Bibee, MD, PhD, looked at a mouse model of Duchenne muscular dystrophy, the most severe inherited form of the disease. Duchenne exclusively affects boys who have to rely on wheelchairs by age 12 and die from heart or respiratory failure in their 20s. The faulty gene that causes the disease prevents the body from producing dystrophin, a protein crucial for maintaining muscle cell integrity and function. The new study demonstrated that mice with muscular dystrophy, in addition to missing dystrophin, also cant recycle cellular waste, a process known as autophagy, or self-eating. Autophagy plays a major role in disposing of cellular debris, said senior author Samuel A. Wickline, MD, the James R. Hornsby Family Professor of Medicine. If it doesnt happen, you might say the cell … Continue reading →

Daryl Sammy Sampaga on Saturday returned home to Hilo, completing his around-the-island trek to raise awareness of muscular dystrophy and raise funds for keiki with disabilities. The 41-year-old, who has muscular dystrophy, which affects his leg muscles, completed his more than 200-mile walk around Hawaii Island, joined by throngs of supporters from the Kamehameha Statue along the Hilo Bayfront to Nani Mau Gardens. Sampaga set out on Operation Walk for Dreams Jan. 14 with the hope 0f raising $25,000 to purchase canoes to take keiki with disabilities paddling in waters off Hilo. On Saturday, Sampaga said that while the operation may not have raised the total needed, he will not give up and plans future fundraisers. Mayor Billy Kenoi on Saturday pledged support to those fundraisers. The trek, which took him from Hilo through the Puna, Kau, South Kona, North Kona, South Kohala, Hamakua, North Hilo and South Hilo districts is just one of his nonprofit Operation Sammy Muscular Dystrophys projects. His next operation will be a three-man tag-team triathlon. Muscular dystrophy is a group of more than 30 genetic diseases characterized by progressive weakness and degeneration of skeletal muscles that control movement, according to the National Institutes of Health … Continue reading →

Lexington, MASS (PRWEB) February 06, 2014 Facioscapulohumeral muscular dystrophy (FSHD) is among the most common muscle-wasting diseases, affecting more than 500,000 people around the world. Its cause is genetic, passed from generation to generation, although 30 percent of cases arise spontaneously in families with no previous history. There is no treatment, but in a new study published in the journal, Skeletal Muscle on February 1, 2014, researchers have identified dozens of compounds showing early promise for future treatments. This is the first published high-throughput drug screening study for FSHD, noted June Kinoshita, Executive Director of the FSH Society, which helped to fund the research. Years of investment in basic research to understand the genetic mechanism of the disease and to develop cell-based assays have made it possible to carry out this efficient strategy to identify drug candidates. Recent discoveries point to a mysterious protein called DUX4 as a lead suspect in causing FSHD. Normally suppressed in adult muscles, DUX4 is unleashed in FSHD, with toxic effects on muscle cells. In people with FSHD, the facial (facio), shoulder (scapula) and upper arm (humeral) muscles are prone to degenerate, giving the disease its name. FSHD can also affect the lower abdomen and … Continue reading →

In research funded by the FSH Society, a patient advocacy organization, a Minnesota team has identified drugs that block the toxic effects of a gene involved in a most common form of muscular dystrophy. Lexington, MASS (PRWEB) February 06, 2014 Facioscapulohumeral muscular dystrophy (FSHD) is among the most common muscle-wasting diseases, affecting more than 500,000 people around the world. Its cause is genetic, passed from generation to generation, although 30 percent of cases arise spontaneously in families with no previous history. There is no treatment, but in a new study published in the journal, Skeletal Muscle on February 1, 2014, researchers have identified dozens of compounds showing early promise for future treatments. This is the first published high-throughput drug screening study for FSHD, noted June Kinoshita, Executive Director of the FSH Society, which helped to fund the research. Years of investment in basic research to understand the genetic mechanism of the disease and to develop cell-based assays have made it possible to carry out this efficient strategy to identify drug candidates. Recent discoveries point to a mysterious protein called DUX4 as a lead suspect in causing FSHD. Normally suppressed in adult muscles, DUX4 is unleashed in FSHD, with toxic effects … Continue reading →

How is Muscular Dystrophy Diagnosed? Muscular dystrophy (MD) is diagnosed through a physical exam, a family medical history, and tests. These might include: For Duchenne and Becker muscular dystrophies, muscle biopsy may show whether dystrophin, a muscle protein, is missing or abnormal, and DNA testing is used to analyze the condition of the related gene. Genetic testing also is available for some forms of muscular dystrophy. There is no cure for any form of muscular dystrophy, but medications and therapy can slow the course of the disease. Human trials of gene therapy with the dystrophin gene are on the near horizon. For instance, scientists are researching ways to insert a working dystrophin gene into the muscles of boys with Duchenne and Becker muscular dystrophies. Researchers are investigating the potential of certain muscle-building medicines to slow down or reverse the progression of muscular dystrophy. Other trials are looking into the effects of the dietary supplements creatine and glutamine on muscle energy production and storage. Symptoms often can be relieved through exercise, physical therapy, rehabilitative devices, respiratory care, and surgery: In some cases, disease progression can be slowed or symptoms relieved with medication: Medications also can be prescribed for some muscular dystrophy-related … Continue reading →

One toot (of the horn) makes me go 15 steps farther, said Daryl Sammy Sampaga, the 41-year-old Hilo native whos making an around-the-island trek to raise awareness of muscular dystrophy and funds to support keiki with disabilities. One horn pushes me more. Sampaga, who has muscular dystrophy, which affects his leg muscles, reached the Kailua-Kona Fire Station about 5:45 p.m. Thursday after walking approximately 129 miles through South Hilo, Puna, Kau, South Kona and North Kona since leaving Hilo town Jan. 14. Sampaga, who didnt do much walking beyond to the car or store before starting this effort, averages 10 to 14 miles per day. The most he walked in one day was 16 miles. Im so proud of him, said his 14-year-old daughter, Keahi Sampaga, who also has muscular dystrophy and walked 10 miles alongside her father Jan. 14. Im surprised he could walk this far. Muscular dystrophy is a group of more than 30 genetic diseases characterized by progressive weakness and degeneration of skeletal muscles that control movement, according to the National Institutes of Health National Institute of Neurological Disorders and Stroke. Some forms of muscular dystrophy are seen in infancy or childhood, while others may not appear … Continue reading →

One toot (of the horn) makes me go 15 steps farther, said Daryl Sammy Sampaga, the 41-year-old Hilo native whos making an around-the-island trek to raise awareness of muscular dystrophy and funds to support keiki with disabilities. One horn pushes me more. Sampaga, who has muscular dystrophy, which affects his leg muscles, reached the Kailua-Kona Fire Station about 5:45 p.m. Thursday after walking approximately 129 miles through South Hilo, Puna, Kau, South Kona and North Kona since leaving Hilo town Jan. 14. Sampaga, who didnt do much walking beyond to the car or store before starting this effort, averages 10 to 14 miles per day. The most he walked in one day was 16 miles. Im so proud of him, said his 14-year-old daughter, Keahi Sampaga, who also has muscular dystrophy and walked 10 miles alongside her father Jan. 14. Im surprised he could walk this far. Muscular dystrophy is a group of more than 30 genetic diseases characterized by progressive weakness and degeneration of skeletal muscles that control movement, according to the National Institutes of Health National Institute of Neurological Disorders and Stroke. Some forms of muscular dystrophy are seen in infancy or childhood, while others may not appear … Continue reading →

One toot (of the horn) makes me go 15 steps farther, said Daryl Sammy Sampaga, the 41-year-old Hilo native whos making an around-the-island trek to raise awareness of muscular dystrophy and funds to support keiki with disabilities. One horn pushes me more. Sampaga, who has muscular dystrophy, which affects his leg muscles, reached the Kailua-Kona Fire Station about 5:45 p.m. Thursday after walking approximately 129 miles through South Hilo, Puna, Kau, South Kona and North Kona since leaving Hilo on Jan. 14. Sampaga, who didnt do much walking beyond to the car or store before starting this effort, averages 10 to 14 miles per day. The most he walked in one day was 16 miles. Im so proud of him, said his 14-year-old daughter, Keahi Sampaga, who also has muscular dystrophy and walked 10 miles alongside her father Jan. 14. Im surprised he could walk this far. Muscular dystrophy is a group of more than 30 genetic diseases characterized by progressive weakness and degeneration of skeletal muscles that control movement, according to the National Institutes of Health National Institute of Neurological Disorders and Stroke. Some forms of muscular dystrophy are seen in infancy or childhood, while others might not appear … Continue reading →