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New treatment advances mean that urgent referral to a neurologist is crucial in infants with spinal muscular atrophy (SMA).

The disease is a leading genetic cause of death of infants aged under two. But, early treatment can delay disease progression, according to recent studies, a GP education campaign launched by the RACGP and a ThinkGP educational module.

“SMA is now a treatable condition. There is an approved therapy on the PBS [Spinraza (nusinersen)], and there are probably other treatments that will be available in the next few years,” says Dr Anita Cairns, a Queensland-based paediatric neurologist.