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Curr Opin Pediatr. 2012 Jun;24(3):336-43. doi: 10.1097/MOP.0b013e3283531bb0.

Neuromuscular disease and the pulmonologist.

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  • 1Division of Pediatric Pulmonary and Sleep Medicine, Lucile Salter Packard Children's Hospital at Stanford, Stanford University, Palo Alto, California, USA.



The heterogeneous nature of neuromuscular disorders (NMDs) continues to promote slow but steady advances in diagnosis, classification, and treatment. This review focuses on the updates in the general management and treatment of NMDs, with emphasis on key updates in muscular dystrophy, myotonic dystrophy, mitochondrial myopathy, spinal muscular atrophy, and hereditary neuropathies.


Current research shows that improvements in morbidity and mortality in various NMDs may be possible. Key components include advances in identification and classification of individual NMDs; attention to anesthetic and surgical risks; aggressive pulmonary care; and implementations of a proactive, multidisciplinary, standard-of-care approach. Innovative molecular and pharmaceutical therapeutic options are being investigated in many of these disorders, but unfortunately no new intervention has borne out.


Important advances were made in the last year in the field of neuromuscular disease. However, because of their heterogeneous nature and rarity, diagnosis and treatment of these disorders either as a single disorder or as a group continue to be both a clinical and a research challenge. It is of utmost importance that clinicians and researchers be aware of these disorders to aid in identification and treatment.

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