Early diagnosis
A confirmed neuromuscular diagnosis is key to better health outcomes and improved quality of life.
A neuromuscular diagnosis shouldn’t take years. We believe access to genetic testing is a fundamental right for all Canadians affected by neuromuscular disorders.
Why it matters
For people living with neuromuscular disorders, the path to a diagnosis is often long, frustrating, and uncertain. Without a clear diagnosis, you’re unsure of what’s happening or how to move forward.
Timely and accurate genetic testing changes everything. It provides a clear understanding of your neuromuscular disorder, opens doors to emerging treatments and clinical trials, and enables you to manage your care effectively.
How we support early diagnosis
Whether through newborn screening or post-symptom genetic testing, a confirmed neuromuscular diagnosis can open up options for treatment and care.
"When my son needed surgery, genetic testing gave us a confirmed diagnosis that empowered me advocate for his care – a confidence that may have saved his life."
Teresa Buffone, parent to a child living with myotonic dystrophy
Harmonized newborn screening for Spinal Muscular Atrophy (SMA), nationwide: We successfully advocated for SMA testing to be included in newborn screening panels in every province and territory in Canada.
No-cost genetic testing for mytonic dystrophy: We are facilitating no-cost genetic testing for people suspected of having myotonic dystrophy, providing a critical pathway to early and more accurate diagnosis.
Your questions, answered!
Your questions, answered!
Would you like to learn more about options for early diagnosis of a suspected neuromuscular disorder? We can help! Call or email our Research Hotline to learn more.
Our other advocacy priorities
"Ensuring access to timely and accurate diagnoses is essential for unlocking opportunities like clinical trials that hold so much promise and give everyone a chance at better outcomes.”
The LeBoeuf family, affected by myotonic dystrophy
Support for infants with SMA
If your baby received an SMA diagnosis through newborn screening, SMArTrack is here to support you. Contact our Research Hotline to learn more or get involved.