Journal article

The use of invasive ventilation is appropriate in children with genetically proven spinal muscular atrophy type I: the motion against

Monique M Ryan

PAEDIATRIC RESPIRATORY REVIEWS | ELSEVIER SCI LTD | Published : 2008

Abstract

Spinal muscular atrophy (SMA) is a relatively common, profoundly disabling and incurable disease that presents in early childhood with hypotonia, weakness and decreased movement. Without ventilatory support, premature death from respiratory insufficiency is universal in children with spinal muscular atrophy type 1 (SMA1). With mechanical ventilation, however, long-term survival in SMA1 has been reported from numerous international centres. Children kept alive by this means experience progressive paralysis and eventually become effectively 'locked in' on the ventilator, with no useful movements of the extremities, progressive facial and bulbar weakness, and complete inability to communicate. ..

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