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  • patients
  • Non ambulant patients will be assessed using the modified version of the Hammersmith Motor Functional Scale while ambulant patients will be assessed using the extended module of the Hammersmith Motor Functional Scale and timed items, the 6 minute walk and a step activity monitor. (clinicaltrials.gov)
  • All patients will also be assessed using the Motor Function Measure (MFM), that covers the whole range of activities for both ambulant and non ambulant patients. (clinicaltrials.gov)
  • 2018
  • A drug shown to be effective in the treatment of babies with the rare muscle-wasting disease spinal muscular atrophy may be effective for muscle control even when treatment is started in children seven months and older, according to a study published in the August 29, 2018, online issue of Neurology, the medical journal of the American Academy of Neurology. (news-medical.net)
  • dystrophy
  • Quarterly seminars given by nationally and internationally recognized speakers as part of Nationwide Children's NIH-funded Sen. Paul Wellstone Muscular Dystrophy Clinical Research Center. (nationwidechildrens.org)
  • Participate in all educational activities and seminars of the Nationwide Children's Wellstone Muscular Dystrophy Cooperative Research Center , one of six such U54-funded centers in the United States. (nationwidechildrens.org)
  • Massachusetts General Hospital researchers have found that extracellular RNA in urine may be a source of biomarkers for the two most common forms of muscular dystrophy, noninvasively providing information about whether therapeutic drugs are having the desired effects on a molecular level. (news-medical.net)
  • Laminin a2-deficient congenital muscular dystrophy (MDC1A) is a very severe, autosomal recessive muscle wasting disease that often leads to death in early childhood (Allamand and Guicheney 2002 Emery 2002). (fitness-vip.com)
  • His mother, Morena Noyes, recalls the first time she took Vance and his sister Kathy - both of whom have limb-girdle muscular dystrophy - to MDA summer camp. (mda.org)
  • neuromuscular disease
  • This has catapulted SMA to the forefront of neuromuscular disease research, providing a unique opportunity to improve outcomes for patients whilst facilitating study of the impact of therapies on underlying disease biology. (findaphd.com)
  • John Porter from the National Institutes of Health likes to start talks by noting, "It's a great time to be a mouse with a neuromuscular disease. (mda.org)
  • Exciting research results are regularly reported, where a treatment appears to cure one neuromuscular disease or another in a mouse - yet there are few treatments available today for people with any of these diseases, and only a few treatments in human. (mda.org)
  • Report on the 4th Ottawa International Conference on Neuromuscular Disease and Biology - September 5-7, 2017, Ottawa, Canada. (nih.gov)
  • molecular
  • Using a cell-based assay for compounds capable of preventing motor neuron cell death in vitro, a collection of approximately 40,000 low-molecular-weight compounds was screened to identify potential small-molecule therapeutics. (aspetjournals.org)
  • Alzheimer's
  • Biogen and Eisai Co., Ltd. announced that Biogen presented results at the Clinical Trials on Alzheimer's Disease meeting, in Barcelona, Spain, from the recent 36- and 48-month analyses of the ongoing long-term extension of the Phase 1b study of aducanumab, an investigational treatment for mild cognitive impairment due to Alzheimer's disease and mild AD. (news-medical.net)
  • Biogen and Eisai Co., Ltd. announced results from a recent analysis of the ongoing long-term extension Phase 1b study of aducanumab, an investigational treatment for mild cognitive impairment due to Alzheimer's disease and mild AD dementia. (news-medical.net)
  • proteins
  • Cell lines produced from SMA individuals show decreased snRNP set up activity that correlates with minimal AZD1208 IC50 SMN proteins amounts (13), and delivery of snRNPs to zebrafish lacking in SMN ameliorates engine neuron abnormalities (14). (biodigestor.net)
  • nevertheless, SMN may possess additional features in engine neurons (such as for example in axonal mRNA trafficking) that explain the precise susceptibility from the engine unit to scarcity of this broadly expressed proteins (15C17). (biodigestor.net)
  • Pathology
  • Here we display that the extremely specific and powerful HDAC inhibitor trichostatin A (TSA) triggered increased SMN amounts, improved engine unit pathology, and improved engine function and success inside a mouse style of SMA treated after disease onset. (biodigestor.net)
  • These occur predominantly in limbs, although bulbar onset pathology can also lead to tongue atrophy and dysphagia. (aspetjournals.org)
  • research
  • The journal is dedicated to providing an open forum for original research in basic science, translational and clinical research that will improve our fundamental understanding and lead to effective treatments of neuromuscular diseases. (iospress.com)
  • Research Leadership MDA welcomes two new muscle disease and ALS experts As part of MDA's bold plan to accelerate treatments and cures for neuromuscular diseases, two new scientific program officers have joined the MDA family: Amanda Haidet-Phillips, Ph.D., and Laura Hagerty, Ph.D. Under the leadership of MDA Senior Vice President and Scientific Program Director Grace Pavlath, Ph.D., they will. (mda.org)
  • Readers sometimes wonder what's happening with research for their diseases when they don't see news about them for a while in the pages of Quest. (mda.org)
  • Dr. Sumners research similarly focuses on inherited motor neuron and peripheral nerve diseases. (hopkinsmedicine.org)
  • This research has been supported by funding from SMART (Spinal Muscular Atrophy Research Team), a nonprofit organization that aims to raise awareness and funds for research aimed at finding a cure for SMA and related diseases. (hopkinsmedicine.org)
  • rodents
  • Unlike human beings, rodents have an individual success engine neuron gene (gene but possess 2 copies of the transgenic human being gene create a type I SMA phenotype, having a median success of around 6 times (19). (biodigestor.net)
  • investigational
  • PTC Therapeutics, a South Plainfield, N.J., biopharmaceutical company, says it will soon open a trial to test the safety and tolerability of its investigational drug RG7800 in adults and children with spinal muscular atrophy (SMA). (mda.org)
  • Treatment
  • de Jong J.M.B.V., den Hartog Jager W.A., Vyth A., Timmer J.G. (1987) Attempted Treatment of Motor Neuron Disease with N-Acetylcysteine and Dithiothreitol. (springer.com)
  • So much is known about SMA and by finding a treatment and cure for it, the pathway to treatments and cures for many other diseases will become infinitely more attainable. (crowdrise.com)
  • Dr. Sumner's laboratory has demonstrated that impaired synaptic connectivity precedes motor neuron death in SMA providing a window of opportunity for effective treatment. (hopkinsmedicine.org)
  • progression
  • Instead, SMNtargeted therapies are modifying the natural progression of the disease, leading to a need to develop a 'next-generation' of combinatorial therapies ("SMN-plus") for SMA. (findaphd.com)
  • Single-nucleus RNA sequencing analysis identifies different subclusters of oligodendroglia in white matter from individuals with multiple sclerosis compared with controls, and these differences may be important for understanding disease progression. (nature.com)
  • Description
  • A natural history study has provided the first comprehensive clinical description of spinal muscular atrophy within the Amish and Mennonite communities and correlates ancestral chromosome 5 haplotypes and SMN2 copy number with disease severity. (news-medical.net)
  • The first description of a disease with autosomal-dominant inheritance and multiple mtDNA deletions goes back to 1989 (Zeviani et al. (fitness-vip.com)
  • Surgery
  • A one-hour, MDA-sponsored webinar features two physicians and the parent of a child with spinal muscular atrophy (SMA) who has undergone bracing and surgery for a spinal curvature, as well as questions and answers from listeners. (mda.org)
  • symptoms
  • Most people with the disease live for 3 to 5 years after their symptoms start, yet some people can live for 10 years or longer. (webmd.com)