• STRASBURG, PA- A natural history study has provided the first comprehensive clinical description of spinal muscular atrophy (SMA) within the Amish and Mennonite communities and correlates ancestral chromosome 5 haplotypes and SMN2 copy number with disease severity. (clinicforspecialchildren.org)
  • Funders include the SickKids Foundation, Canadian Institutes of Health Research, Muscular Dystrophy Canada (Rachel Fund), the (US) National Institutes of Health, and generous support from Tribute Communities and the Kazman Family Fund. (healthcanal.com)
  • The significance of the study is that it demonstrates for the first time the role of the ubiquitin-proteasome system in degrading the mutant SERCA1 protein, explaining the symptoms associated with Chianina cattle pseudomyotonia and some forms of Brody disease. (asbmb.org)
  • A look at causes, symptoms, and care options for neuromuscular diseases, and how we're leading the way to better treatments and cures. (mda.org)
  • Osteoporosis is often referred to as a silent disease because there are no signs or symptoms until a bone fracture occurs. (livestrong.com)
  • Kennedy's disease can usually be diagnosed based on symptoms, but genetic testing may be ordered in order to confirm a diagnosis. (medic8.com)
  • There is no cure for AS, but new biological medications can help slow the progression of the disease. (livestrong.com)
  • We are thrilled to see this preservation of muscle function and substantial slowing of disease progression in boys following more than a year of edasalonexent treatment. (tmcnet.com)
  • Building on the results previously reported for edasalonexent treatment in patients up to 36 weeks, these new data at 48 and 60 weeks show that edasalonexent continued to slow progression of the disease. (tmcnet.com)
  • In Phase 2 and the open-label extension of the MoveDMD trial, a preservation of muscle function and slowing of DMD disease progression was seen in boys treated with edasalonexent compared to the rates of change during the control period prior to receiving edasalonexent. (tmcnet.com)
  • Informing the affected patients and their families about the likely course of the disease and the pace of progression would allow them to better plan their life and prepare for the worst. (healthcanal.com)
  • Spondylitis is the name for a group of diseases that primarily affect the spine, causing inflammation in the spine that can result in chronic pain and debilitation. (livestrong.com)
  • As the disease progresses, the chronic inflammation can cause new bone formation. (livestrong.com)
  • Researchers of the Bellvitge Biomedical Research Institute (IDIBELL) led by Dr. Montse OlivĂ© have described in Nature Communications a new muscular disease caused by a mutation in the myoglobin gene. (lightsources.org)
  • By studying a gene in zebrafish, Stephen Devoto and his students have a better understanding of what causes birth defects and diseases affecting human musculature. (wesleyan.edu)
  • A stunning new breakthrough using the CRISPR-Cas9 system indicates we could potentially activate any gene to cure diseases. (inquisitr.com)
  • They modified the gene targeting system so that it alters gene activity of disease-associated genes and does not cut the DNA. (inquisitr.com)
  • The team claims that similar techniques could be used to activate any gene without the risk of causing unexpected genetic mutations while reversing the course of disease. (inquisitr.com)
  • They managed to use this gene targeting therapy to reverse diseases in mice. (inquisitr.com)
  • They didn't even try to repair the gene that was causing the disease. (inquisitr.com)
  • They just increased genetic expression that was on the same pathway as the mutated, disease-causing gene. (inquisitr.com)
  • Kennedy's disease is classed as an X-linked condition, which is caused by a genetic mutation in a gene responsible for producing the protein known as AR (androgen receptor). (medic8.com)
  • Normally, a person has 10 sequences of CAG in their DNA on the AR gene (this relates to cytosine, adenine and guarine), but in people with Kennedy's disease, there are more than 36 sequences. (medic8.com)
  • As a result of this, only males are affected by Kennedy's disease, even when females carry the defective gene. (medic8.com)
  • However, for certain DNA sequences, like the one that causes Huntington's disease and muscular dystrophy (myotonic dystrophy), the repair gene actually causes the mutation rather than repairs it. (healthcanal.com)
  • Dr. Pearson's international research team looked at the gene responsible for Huntington's disease. (healthcanal.com)
  • They investigated the effect of two forms of naturally occurring variations of the repair gene upon the mutation in Huntington's disease mice. (healthcanal.com)
  • Today, understanding why Huntington's disease progresses fast or slowly in different patients is mostly guesswork," says lead author Dr. Christopher Pearson of The Hospital for Sick Children (SickKids). (healthcanal.com)
  • The HSE and NGOs to provide ongoing support for people living with rare diseases and the promotion of awareness of rare diseases. (mdi.ie)
  • Early diagnosis and detection of these diseases is import to that treatment and care can begin as soon as possible. (mdac.ca)
  • Other conditions often confused with Kennedy' disease include ALD (adrenoleukodystrophy), motor neurone disease, Guillain-Barre syndrome and myasthenia gravis. (medic8.com)
  • Our finding demonstrates the linked nature of the two opposing processes of growth and atrophy and opens new avenues to pursue treatments of muscle diseases," said Wilson-Rawls. (redorbit.com)
  • This discovery will allow scientists to better understand the causes of birth defects and diseases affecting human musculature, such as Muscular Dystrophy, and opens doors for the development of effective stem cell therapies for such diseases. (wesleyan.edu)
  • As a long-term goal, my research seeks to contribute to understanding birth defects and diseases affecting human musculature, and developing therapies for them. (wesleyan.edu)
  • The observations were conducted within a population-specific framework to elucidate subtle differences in disease expression and the subsequent impact of disease-modifying therapies administered early in life. (clinicforspecialchildren.org)
  • If so, it would be the first (or among the first) effective treatment at the DNA level for Huntington's disease. (healthcanal.com)
  • Targeted genome editing advancements could spell the end of a multitude of human diseases. (inquisitr.com)
  • European fund raising foundation for Muscular Dystrophy in relation with Harley-Davidson events, H.O.G. Chapter events and Harley-Davidson dealers within the European community. (dmoztools.net)
  • Muscular dystrophy is a group of inherited diseases that are characterized by weakness and wasting away of muscle tissue, with or without the breakdown of nerve tissue. (sjhsyr.org)
  • The findings also suggest specific inhibition of the ubiquitin-proteasome system could be a sound therapeutic strategy against the two diseases. (asbmb.org)
  • It's classified as an autoimmune disease because it's caused by the cells of the body's immune system attacking the cells that line the joints, known as the synovial cells. (livestrong.com)
  • 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. (mda.org)
  • The development of a rare disease research network to enhance the quality and relevance of rare disease research in Ireland. (mdi.ie)
  • This paper is titled "MSH3 Polymorphisms and Protein Levels Affect CAG Repeat Instability in Huntington's Disease Mice," published on-line in PLOS Genetics on February 28, 2013. (healthcanal.com)
  • Patient empowerment and the support of patient organisations in the establishment of monitoring and reporting mechanisms on the rare disease plan. (mdi.ie)
  • 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. (mda.org)