In this article, we highlight some of the most important developments from the last few years in the field of muscle diseases, including new additions to the congenital myasthenic syndromes (CMS) and limb-girdle muscular dystrophies (LGMD), advances in our understanding of the pathophysiology of certain muscle disorders and progress in diagnostics and therapeutics. Unsurprisingly, the most prominent developments have come from the field of genetics, with significant advances in diagnosis and gene therapy giving hope to those with hitherto untreatable conditions.
Keywords: Duchenne muscular dystrophy; Inclusion body myositis; Limb-girdle muscular dystrophy; Myasthenia gravis; Myopathy; Spinal muscular atrophy.