Management of children with spinal muscular atrophy type 1 in Australia.

@article{Tassie2013ManagementOC,
  title={Management of children with spinal muscular atrophy type 1 in Australia.},
  author={Benjamin Tassie and David Isaacs and Henry A Kilham and Ian Kerridge},
  journal={Journal of paediatrics and child health},
  year={2013},
  volume={49 10},
  pages={815-9}
}
AIMS The study aims to: (i) estimate the prevalence of spinal muscular atrophy type 1 (SMA 1); (ii) describe what practices characterise end-of-life care of patients with SMA 1; and (iii) ascertain whether a consistent approach to the management of these patients exists in Australia. METHODS An audit of the Australasian pathology laboratories offering the diagnostic SMN1 deletion test was conducted for patients diagnosed with SMA in Australia for 2010 and 2011. In addition, a retrospective… CONTINUE READING

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