The Department of Health is to launch a pilot program to include a screening program for the State’s newborn babies to identify any with the rare genetic disorder Spinal Muscular Atrophy (SMA).
In a statement, the Department said SMA was a devastating genetic condition that affected the nerves controlling skeletal muscle movement, leading to progressive muscle weakness, lifelong functional impairment and paralysis.
“SMA is the leading cause of death in infants with an incidence of approximately one in 10,000 births,” the Department said.
“However, new therapies have shown significantly improved outcomes for those living with SMA and early detection can help to administer these therapies to reduce morbidity, mortality and improve quality of life,” it said.
The Department said it planned to include SMA in the State’s Newborn Bloodspot Screening (NBS) Program.
“The NBS Program has existed for more than 50 years in Australia to screen all babies through a heel prick procedure for serious genetic conditions,” it said.
“It is important for parents to know that this is a screening program, not a diagnosis.
“An abnormal result does not always mean a baby has a rare condition, but it may indicate they are at increased risk.”
The Department said if a baby was identified as being high risk, further investigations were often recommended to determine if there was a diagnosis and healthcare providers and families could be notified immediately.
