The Royal Australian College of General Practitioners (RACGP) has today launched a new education campaign for GPs to boost early detection of spinal muscular atrophy and other paediatric neuromuscular disorders, and promote genetic carrier screening.

Spinal muscular atrophy (SMA) is a genetic neuromuscular disorder characterised by progressive muscle weakness and wasting due to the degeneration of motor neurons.

SMA is the number one genetic killer of infants under the age of two – 1 in 35 people are carriers of the gene in Australia.

While there is no known cure for SMA, recent advances in therapy mean that it is treatable. Early referral and diagnosis is key, as timely treatment may delay disease progression and improve outcomes. Delays in referral and drug treatment can lead to further loss of motor neurons and function. On the other hand, early diagnosis and treatment also aids early intervention and support measures which can make a real difference for the patient and their family.

National guidelines recommend that carrier screening for hereditary rare diseases, including SMA, be offered to all women or couples planning a pregnancy, or in the first trimester of pregnancy, regardless of family history or geographic origin. This genetic testing involves a simple mouth swab or blood test and allows a couple to understand their risk of passing on an inherited condition to their children.

The RACGP’s education campaign, funded by the Department of Health, aims to raise awareness of SMA and other paediatric neuromuscular disorders and give practitioners the knowledge and skills to initiate conversations about carrier screening. It provides information and resources for GPs and other healthcare professionals via accredited training and a campaign website: www.bewaretherare.com.au

Two modules of training will be available to help healthcare professionals understand the red flags for spinal muscular atrophy and carrier screening for hereditary rare diseases. Both modules take an hour and have been accredited by the RACGP for 2 CPD points.

The training was developed in consultation with other medical colleges, including the Royal Australian and New Zealand College of Obstetricians and Gynaecologists, and Spinal Muscular Atrophy Australia. It is suitable for GPs, practice nurses, obstetricians, fertility specialists, general paediatricians and maternal child health nurses.

RACGP President Dr Harry Nespolon said the education campaign could make a real difference for patients.

“While there is no known cure for spinal muscular atrophy, with recent drug advancements there are new treatment options.

“Early diagnosis is key to better treatment outcomes for patients – the sooner the disease is detected and treatment begins the better the chance of preventing further loss of motor neurons and motor function. 

“Further to drug treatment, early diagnosis means early intervention and supports can be set up for the patient, including a multidisciplinary care team – which not only supports the patient but can also help to ease the burden on their family.

“The RACGP’s education campaign will help GPs and other primary care professionals build their skills to recognise the signs of spinal muscular atrophy, improving outcomes for patients.

“The campaign will also provide the resources and training for GPs and other health professionals to have conversations about carrier screening with women and couples. This genetic test enables those planning a pregnancy to make informed reproductive choices, in line with their values and wishes.”

“It’s an unfortunate fact that rare diseases can go undetected due to the lack of awareness. Spinal muscular atrophy is the number one genetic cause of death of children under two. If we improve early detection and screening, we can make a big difference for patients and their families.”

Professor Jon Emery, GP, Herman Professor of Primary Care Cancer Research, University of Melbourne was a member of the advisory group for the education campaign.

Professor Emery said recent advances in therapy could make a big difference for patients but early detection was key.

“This education campaign will upskill GPs across the country so they can spot the warning signs of spinal muscular atrophy, so more patients can benefit from early referral, diagnosis and treatment.”