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Dr Candice O’Sullivan
31 Aug, 2020

August is Spinal Muscular Atrophy (SMA) Awareness Month, a great time to introduce you to a new suite of educational resources we helped develop to boost awareness of SMA by GPs and other healthcare professionals. The project was funded by the Department of Health and led by The Royal Australian College of General Practitioners (RACGP).

What is SMA?

SMA is a rare hereditary neuromuscular disorder that affects approximately one in 11,000 live births.1 The condition is associated with loss of motor neurons in the brain stem and spinal cord and is characterised by progressive muscle weakness and wasting.2,3 Untreated, it is the most common genetic cause of infant mortality and an important cause of motor delay or regression in children that is often missed.4

RACGP SMA website

Early diagnosis and intervention

Although there is no cure for SMA, new disease-modifying therapies can be used to slow progression and improve survival.1 Clinical trials have shown that the earlier a child is started on treatment, the better they are expected to respond.5 Unfortunately, SMA can be difficult to diagnose, which can lead to significant delays in treatment initiation. Hence, the need to raise awareness of the warning signs (‘red flags’) associated with SMA in clinical practice.

RACGP SMA campaign flyer

The role of the general practitioner

While general practitioners (GPs) are not expected to formally diagnose SMA or other neuromuscular disorders, they are expected to recognise the common red flags that may be seen in clinical practice and make a timely referral to the appropriate specialist. We developed the awareness program for the RACGP with this in mind. The accredited resources include a guide for healthcare professionals, a fact sheet, a CPD activity and a video library demonstrating the clinical signs of SMA to watch out for.

Preventing SMA

Carrier screening can detect if an individual or couple are carriers of SMA, and therefore at increased risk of having an affected child. It is now recommended that all women planning a pregnancy be offered carrier screening for SMA, cystic fibrosis (CF) and fragile X syndrome (FXS).6 Healthcare professionals can find more information about genetic carrier screening, including advice on how best to counsel patients about their options, by reviewing the new resources.

Need to build disease awareness or clinician knowledge?

Wellmark has been developing disease awareness campaigns and medical education programs for healthcare professionals and health consumers for over 20 years. We work in partnership with clinical advisory boards and key opinion leaders to develop credible programs that meet CPD requirements in an engaging and memorable way. If you’d like to discuss your program requirements, please contact Bryce Michelmore, Account Director, by email [email protected] or phone (03) 8373 2777.

View our campaign for SMA and carrier screening >

View the campaign website >

  1. Farrar M, Park SB, Vucic S, et al. Emerging therapies and challenges in spinal muscular atrophy. Ann Neurol 2017;81(3):355–68. ↩︎
  2. D’Amico A, Mercuri E, Tiziano FD, Bertini E. Spinal muscular atrophy. Orphanet J Rare Dis 2011;6(71). ↩︎
  3. Wirth B. An update of the mutation spectrum of the survival motor neuron gene (SMN1) in autosomal recessive spinal muscular atrophy (SMA). Hum Mutat 2000;15(3):228–37. doi: 10.1002/(SICI)1098-1004(200003)15:3<228::AID-HUMU3>3.0.CO;2-9. ↩︎
  4. Darras B. Spinal muscular atrophies. Pediatr Clin N Am 2015;62(3):743–66. ↩︎
  5. Finkel R, Mercuri E, Darras B, et al. Nusinersen versus sham control in infantile-onset spinal muscular atrophy. N Engl J Med 2017;377(18):1723–32. ↩︎
  6. The Royal Australian College of General Practitioners. Genetic Carrier Screening. East Melbourne, Vic: RACGP. Available at https://3rekpijdp3u33qjpb2ww93j1-wpengine.netdna-ssl.com/wp-content/themes/bewaretherare/pdfs/Genetic-carrier-screening.pdf [Accessed 28 August 2020]. ↩︎

Dr Candice O’Sullivan, Managing Director | Head of Strategy & Planning at Wellmark. You can follow Wellmark on Facebook @wellmarkcreative, LinkedIn @Wellmark_Pty_Ltd or Insta @wellmarkcreative.