Muscular dystrophies (MDs) are a heterogeneous group of genetic diseases that are among the most common forms of neuromuscular diseases (NMDs). Clinically, MDs manifest as progressive muscle weakness related to loss of mobility, agility and physical movements as a consequence of defects in genes responsible for muscle protein synthesis 14, 29. According to the National Institute of Neurological Disorders and Stroke (NINDS), there are nine major groups of MDs40: Duchenne muscular dystrophy (DMD), Becker muscular dystrophy (BMD), Myotonic dystrophy (DM), Facioscapulohumeral muscular dystrophy (FSHD), Congenital muscular dystrophy (CMD), Limb-girdle muscular dystrophy (LGMD), Emery-Dreifuss Muscular Dystrophy (EDMD), Occulopharyngeal Muscular Dystrophy (OPMD), and Distal Muscular Dystrophies (Distal MDs or Distal myopathies).
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