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  • spinal
  • We specialize in treating children with spinal muscular atrophy, a rare, potentially life-threatening disease that leaves many children unable to walk, eat by mouth, or breathe independently. (dukehealth.org)
  • The pediatric pulmonologist who co-leads our neuromuscular program serves on the Medical Advisory Council for CureSMA , a national patient advocacy organization pursuing a cure for spinal muscular atrophy. (dukehealth.org)
  • Second, new information about the natural course of spinal muscular atrophy is beginning to clarify the nature of this disease. (ovid.com)
  • nerve
  • 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)
  • clinical
  • The Centre, the first of its kind in the UK, promotes translational research in neuromuscular disease - a bench to bedside approach that is intended to facilitate the rapid transfer of research knowledge to the clinical environment. (uclh.nhs.uk)
  • The clinical presentation of skeletal muscle weakness associated with an impairment to or inability to move extremities against gravity, with or without an elevated creatine kinase, is highly suggestive of a neuromuscular disorder. (endocrinologyadvisor.com)
  • Organised by Dr Robert Hadden, it aims to provide practical general clinical updates as well as an introduction to the science underlying neuromuscular diseases. (kcl.ac.uk)
  • detect
  • Identify abnormal genes and detect and measure certain proteins in the blood that are common in some neuromuscular diseases. (dukehealth.org)
  • However, scientists still need a lot of fine-tuning, in particular to find reliable markers, i.e. specific parameters they can measure to detect, follow and hopefully treat these diseases. (worldpharmanews.com)
  • sure
  • Initially the doctors thought she had an infection in one of her ribs but after lots of tests a doctor has told her she has a very rare condition called "Bourne Holmes" Disease (not sure of the spelling). (healthboards.com)