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Screening for spinal muscular atrophy

Hugo Sampaio, Bridget Wilcken and Michelle Farrar
Med J Aust 2018; 209 (4): 147-148. || doi: 10.5694/mja17.00772
Published online: 20 August 2018

Early diagnosis allows the possibility of starting treatment at a young age to achieve better outcomes

Rapid advances in technology and novel disease-modifying treatments will increase demands for early diagnosis and screening for many severe childhood conditions. This is exemplified by spinal muscular atrophy (SMA).

  • Hugo Sampaio1
  • Bridget Wilcken1,2
  • Michelle Farrar1,3

  • 1 Sydney Children's Hospital, Sydney, NSW
  • 2 Children's Hospital at Westmead, Sydney, NSW
  • 3 UNSW Sydney, Sydney, NSW


Acknowledgements: 

Michelle Farrar received support from the Motor Neurone Diseases Research Institute of Australia Beryl Bayley MND Postdoctoral Fellowship.

Competing interests:

Michelle Farrar has received honoraria from Biogen for consultancy.

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