Spinal muscular atrophy: The top genetic killer of infants under two – RACGP

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The RACGP is offering new accredited training to help upskill GPs to recognise the warning signs for spinal muscular atrophy.
One in 35 people in Australia is a carrier of the gene for spinal muscular atrophy.
When their baby was just 10 weeks old, Rachael Casella and her husband received a devastating diagnosis: their daughter Mackenzie had spinal muscular atrophy (SMA) type 1, a genetic neuromuscular disorder.At seven months and 11 days old, Mackenzie passed away.What added to their pain was the discovery that simple genetic screening offered through their GP – either a mouth swab or blood test – could have informed the parents that they are both carriers of the gene. ‘We felt really angry for a long period of time,’ Mrs Casella told newsGP.‘We went above and beyond when it came to preparing for a pregnancy … the fact that this test wasn’t offered to us, we were really angry.  ‘It meant that our daughter had to suffer, and we had to suffer.’While SMA is considered rare, one in 35 people in Australia is a carrier of the gene. However, much like the Casellas, most people will not know that they are carriers until they have their first child, Professor Jon Emery, a GP and adviser for the RACGP’s new SMA education campaign, told newsGP.  ‘Although genetic conditions are still individually rare, they contribute to quite a significant cause of severe disability and early death in children,’ he said.‘Particularly conditions like SMA.’SMA is the most common genetic disorder resulting in infant mortality under the age of two.The disorder is characterised by progressive muscle weakness and wasting due to the degeneration of motor neurons, affecting muscles in the arms and legs, as well as those that control breathing and swallowing.But a lack of awareness, Professor Emery says, means cases can be dismissed as slight delays in reaching milestones, resulting in delayed referral and diagnosis.‘The important thing is that their cognition is unaffected, so these are bright and alert children,’ he said.‘They don’t have dysmorphic features of other types of genetic conditions, and so often this is part of the reason that they may be dismissed to begin with.‘Key red flags

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