Screening for spinal muscular atrophy

Sampaio, Hugo; Wilcken, Bridget; Farrar, Michelle

doi:10.5694/mja17.00772

Topics

Nervous system diseases

Environment and public health

Pediatric medicine

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).

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

Correspondence: michelle.farrar@health.nsw.gov.au

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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