REGISTRIES AND CARE OF NEUROMUSCULAR DISORDERS

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Congenital onset neuromuscular disorders (NMD) are a heterogeneous group of diseases including congenital muscular dystrophies (CMD), congenital myopathies (CM), congenital myotonic dystrophy, congenital myasthenic syndromes (CMS) and metabolic myopathies. These are characterised by onset before or at birth. Final molecular diagnosis is often delayed causing a direct impact on outcome of these children. We aimed to clinically characterise a series of infants less than three months old referred to the neuromuscular service from 2010 to 2017 and study their outcomes to develop standards of care for this group.

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