http://medicalxpress.com/ en-us Medical Xpress internet news portal provides the latest news on Health and Medicine. TU Delft is developing a special respirator for children with a neuromuscular disease. The Sporters in Actie foundation collected €100,000 for research on this breathing mask during the 'Greatest Golf Tournament in the World' in Zoetermeer on Saturday 6 April. http://medicalxpress.com/news/2013-04-respirators-children-neuromuscular-diseases.html Diseases, Conditions, Syndromes Mon, 15 Apr 2013 07:40:01 EST news285229067 Spinal muscular atrophy is a debilitating neuromuscular disease that in its most severe form is the leading genetic cause of infant death. By experimenting with an ALS drug in two very different animal models, researchers at Brown University and Boston Children's Hospital have identified a new potential mechanism for developing an SMA treatment. http://medicalxpress.com/news/2013-04-approach-spinal-muscular-atrophy.html Neuroscience Tue, 09 Apr 2013 17:00:04 EST news284745218 By targeting the specific mutation that causes the hereditary neuromuscular disease myotonic dystrophy, it is possible to neutralize the mutant RNA toxicity and minimize or even eliminate the disabling symptoms of the disease. New classes of drugs called antisense oligonucleotides are being designed to achieve this. Innovative work to develop a modified antisense drug that can be administered intravenously and achieve the desired therapeutic effect is described in an article in Nucleic Acid Therapeutics. http://medicalxpress.com/news/2013-02-drug-delivery-strategy-myotonia-symptoms.html Diseases, Conditions, Syndromes Fri, 22 Feb 2013 09:32:27 EST news280747940 Jacob Rutt is a bright 11-year-old who likes to draw detailed maps in his spare time. But the budding geographer has a hard time with physical skills most children take for granted—running and climbing trees are beyond him, and even walking can be difficult. He was diagnosed with a form of muscular dystrophy known as Duchenne when he was two years old. http://medicalxpress.com/news/2013-02-experimental-gene-therapy-treatment-duchenne.html Genetics Thu, 07 Feb 2013 16:49:32 EST news279478154 Philips Respironics today announces the availability of the new bi-level ventilator BiPAP A401 for the management of chronic respiratory insufficiency, a condition secondary to diseases such as obesity hypoventilation syndrome, chronic obstructive pulmonary disease (COPD) and neuromuscular disease for adult and pediatric patients (above 10 kg). http://medicalxpress.com/news/2012-11-patient-centric-solution-chronic-respiratory-insufficiency.html Diseases, Conditions, Syndromes Fri, 16 Nov 2012 08:25:22 EST news272276697 What do a tight, fitted bed sheet and a blood clot in the wrist have in common? Both are associated with a condition called sheet fitting palsy. True to its name, the palsy is reported in those who spend a long period of time repeatedly trying to pull a fitted bed sheet over the corner of a mattress. But it has also been reported in basketball players and in those who do push-ups as exercise. http://medicalxpress.com/news/2012-11-housework-health-hazard-sheet-fitting-palsy.html Diseases, Conditions, Syndromes Thu, 08 Nov 2012 16:28:08 EST news271614467 European researchers are working toward restoration of mobility in neuromuscular disease and trauma. Using miniature scaffolds to guide nerve regeneration, they are seeking to ensure proper functional connections between peripheral nerves and their target muscles. http://medicalxpress.com/news/2012-07-reconnecting-nerves-muscles.html Medical research Tue, 31 Jul 2012 10:12:36 EST news262948349 Cedars-Sinai's Regenerative Medicine Institute has pioneered research on how motor-neuron cell-death occurs in patients with spinal muscular atrophy, offering an important clue in identifying potential medicines to treat this leading genetic cause of death in infants and toddlers. http://medicalxpress.com/news/2012-06-stem-cells-advance-spinal-muscular.html Medical research Wed, 20 Jun 2012 09:45:26 EST news259404305 A team of scientists from the University of Missouri created a genetically modified mouse that mimics key features of Charcot-Marie-Tooth disease, an inherited neuromuscular disease affecting approximately 150,000 people in the United States. http://medicalxpress.com/news/2012-04-genetically-mice-aid-incurable-neuromuscular.html Medical research Tue, 17 Apr 2012 13:08:20 EST news253886739 Patients with a cardiac irregularity and myotonic dystrophy type 1 (a severe neuromuscular disorder with a high risk of sudden death) who received an invasive treatment strategy that included testing of their heart's electrical conduction system and if needed, implantation of a device such as a pacemaker, had an associated higher rate of 9-year survival compared to patients treated noninvasively, according to a study in the March 28 issue of JAMA. http://medicalxpress.com/news/2012-03-invasive-treatment-strategy-survival-patients.html Cardiology Tue, 27 Mar 2012 16:00:05 EST news252082161 A team of researchers grafting human spinal stem cells into rats modeled with amyotrophic lateral sclerosis (ALS), also known as "Lou Gehrig's Disease," a degenerative, lethal, neuromuscular disease, have tested four different immunosuppressive protocols aimed at determining which regimen improved long-term therapeutic effects. Their study demonstrated that a combined, systematically delivered immunosuppression regimen of two drugs significantly improved the survival of the human spinal stem cells. Their results are published in the current issue of Cell Transplantation (20:8), now freely available on-line at http://www.ingentaconnect.com/content/cog/ct/. http://medicalxpress.com/news/2011-12-grafting-human-spinal-stem-cells.html Medical research Mon, 19 Dec 2011 16:07:15 EST news243533227 A new study from Cold Spring Harbor Laboratory (CSHL) reports surprising results that suggest that the devastating neuromuscular disease, spinal muscular atrophy (SMA), might not exclusively affect the motor neurons in the spinal cord as has long been thought. The new findings suggest that defects in peripheral tissues such as liver, muscle, heart, etc., might also contribute to the pathology of the disease in severely affected patients. The study, which also paves the way for a potential SMA drug to enter human trials by the end of the year, appears in Nature on October 6. http://medicalxpress.com/news/2011-10-long-term-severe-spinal-muscular-atrophy.html Medical research Wed, 05 Oct 2011 13:00:02 EST news237037984 With a new application developed by a U-M neurologist, better understanding of the anatomy of the peripheral nervous system can be found right on your iPhone. http://medicalxpress.com/news/2011-07-app-brain-tool-u-m-doctor.html Neuroscience Tue, 12 Jul 2011 16:43:46 EST news229707798