In partnership with Canada’s Rare Disease Strategy and Novartis Pharmaceuticals Canada, Muscular Dystrophy Canada announced on August 20 that screening measures for spinal muscular atrophy (SMA), a potentially fatal disorder often present at birth, have increased to all newborns across the country.
Prior to the announcement, only infants in Ontario and the Baffin region in Nunavut were screened for the disorder, leaving those in other provinces to wait until symptoms develop to receive proper diagnostic care. The problem with waiting is that the disease is progressive, and the longer the wait for treatment, the worse the outcome for those born with it.
The milestone change allows parents of children born with SMA to receive a diagnosis as early as possible and, in turn, provide life-changing treatments that can improve the way the disorder plays out throughout the rest of the infants’ lives.
What is SMA?
SMA is a form of progressive genetic disease that affects skeletal muscle, as well as both the peripheral and central nervous systems. It develops when there is a deficiency in a motor neuron protein known as survival of motor neuron, or SMN for short.
The protein is regarded as vital for the function of motor neurons, and when it’s in short supply, people experience highly debilitating symptoms, such as weakness in the voluntary muscles. Many complications can arise due to this weakness, such as breathing and swallowing difficulties and spinal curvatures.