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).
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Michelle Farrar received support from the Motor Neurone Diseases Research Institute of Australia Beryl Bayley MND Postdoctoral Fellowship.
Michelle Farrar has received honoraria from Biogen for consultancy.