Abstract
Abstract There have been several significant recent advances in the diagnosis and management of children with neuromuscular disorders. These have been accompanied by an increased understanding of the basic defects seen, in particular how genotype relates to phenotype. In this article we aim to review the advances in commonly seen neuromuscular disorders in children including spinal muscular atrophy, Duchenne muscular dystrophy, myotonic dystrophy, the congenital myopathies, myaesthenic syndromes, limb-girdle muscular dystrophies and Charcot–Marie–Tooth hereditary neuropathies. We explain what treatments have been shown to be effective and where research efforts are currently concentrated for each group of disorders.
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