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Current Concepts in Childhood Spinal Muscular Atrophy

Am J Dis Child. 1991;145(4):462. doi:10.1001/archpedi.1991.02160040124020.
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There has been a surge of interest in neuromuscular disease in the past 2 years, sparked primarily by major genetic discoveries. While initial attention focused appropriately on Duchenne muscular dystrophy, the momentum has now swung to the spinal muscular atrophies, which, the authors note, are equally frequent and no less important in childhood because of their severe handicaps and disabilities. This book covers the clinical picture, research strategies, pathogenesis, genetics, natural history, rehabilitative care, and other clinical management problems. New avenues of therapy are discussed, including attention to nutrition, respiratory care, physical and occupational therapy, and psychological management. Gloria Eng, long a pioneer in the treatment of children with this disorder, notes that the terminal course may be particularly difficult: "Every parent reacts differently when the baby has a protracted course and begins to die. At that point everyone is worn out, including the physician." "No code" status, preference of


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