spinal muscular atrophy screening expanded to all infants in canada: 'early diagnosis and effective treatment are critical'
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newborns born with sma now have a chance at a better life thanks to new country-wide screening measures.
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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.
as recent as 2020, only infants in ontario and the baffin region of nunavut were being screened for the disorder. however, over the past four years, many provinces, including alberta, saskatchewan, and manitoba in 2022, have initiated screening programs. this effort has culminated in the recent announcement that all provinces and territories are now onboard with newborn screening.
the issue with delaying diagnosis is that the disease is progressive, and the longer the wait for treatment, the worse the outcomes for those born with the condition.
the milestone change ensures parents of children born with sma across canada can 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.
these complications can be life-threatening in many cases, and many people born with sma have a significantly shortened lifespan when compared to the general population. there are various types and severities, with the most severe leading to infants succumbing to the disease before their second birthday.
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in some cases, people with milder disease can live for many years, such as those who have later onset disease, but the symptoms and loss of motor neuron function cause permanent disability and a significantly reduced quality of life.
every infant screened for sma at birth
for many years, infants were only screened for sma after exhibiting signs of the disease. because of that, the disorder was left to cause enough damage to a child or infant before anyone even knew that it was happening. the progressive nature of the disease also makes early diagnosis crucial because starting treatment could delay the damage done by sma.
“early diagnosis and effective treatment are critical to achieving the best possible outcomes for babies born with this neuromuscular condition,” said dr. pranesh chakraborty, chief of the department of pediatrics at children’s hospital of eastern ontario and chair of the department of pediatrics at ottawa’s faculty of medicine, in a press release. “historically, most infants and children with sma would have been diagnosed only after they have developed weakness and respiratory difficulty, at a time when most of their motor neurons have been irretrievably lost.”
with these new earlier screening measures, every single infant in canada can now be screened at birth, allowing parents and medical providers to halt the damage before it gets too bad.
“now, instead of facing life-limiting disability and, in the most severe cases, a life expectancy of less than two years, babies affected by sma every year in canada shall be diagnosed within the first weeks of life, allowing them to rapidly receive therapy and improved outcomes,” dr. pranesh added in the press release.
changing the lives of those living with sma and other neuromuscular diseases
the barriers that existed prior to the new screening implementation not only left out a significant number of canadians but also made it more difficult for those living in communities that are far from where screening takes place to get answers fast enough to treat the condition early. the inequities faced by these families could literally mean the difference between life and death.
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now, however, those barriers are being broken down with these new measures, allowing families in all provinces and all areas to have closer access to the proper screenings required to keep infants from progressing further into sma without parents or healthcare providers even being aware of its existence.
taylor diakew, a mother of a young child with sma, said in a press release, “i could not imagine what our life would look like if my daughter were not given genetic sma testing at birth. today, thanks to her early diagnosis and quick access to treatment, she is a happy, healthy little girl who does not exhibit any signs of sma. she is walking, running, climbing, and talking like any other child. thanks to sma newborn screening, she can live the best life possible.”
these new screening measures will help prevent the worst outcome in those living with sma, and couldn’t have been possible without the collaboration of provincial and territorial governments with muscular dystrophy canada and novartis pharmaceuticals canada.
the new initiative also paves the way for better screening for other rare and neuromuscular diseases.
“there are many progressive neuromuscular disorders where time is of the essence: early diagnosis and prompt access to treatments are critical drivers to achieving the best possible outcomes,” said dr. homira osman, vp of research and public policy, muscular dystrophy canada, in a press release. muscular dystrophy canada will now leverage the knowledge and findings gained from this initiative to ensure other neuromuscular disorders are included in newborn screening programs nationwide.”
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