Inside the causes and types of SMA. Plus, the tests and screenings needed to make an accurate diagnosis.
Videos: Rare Takes
Pediatric neuromuscular medicine specialist Melissa Wright, MD, PhD, answers the most common and challenging questions surrounding SMA diagnosis and treatment. These short, focused Q&As provide practical strategies for managing real-world patient scenarios.
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In this Guide
Inside the causes and types of SMA. Plus, the tests and screenings needed to make an accurate diagnosis.
The role of SMN1 and SMN2 genes in spinal muscular atrophy, including their impact on function, motor neurons, and more.
A clinical guide to making a differential diagnosis in spinal muscular atrophy, including initial testing and newborn screening guidelines.
A look at the clinical features that determine SMA Type and classification. Plus, what clinicians should do when classification is uncertain.
Clinical considerations for differential diagnosis, including overlapping symptoms in spinal muscular atrophy, muscular dystrophies, myasthenic disorders, and more.
A clinical review of how spinal muscular atrophy progresses throughout the lifespan, including musculoskeletal weakness and respiratory impact.
How gene-replacement therapies and SMN-C splicing modifiers are changing the quality of life for people with spinal muscular atrophy.
Key clinical strategies for collaborative care for an adult with SMA, including treatment decision-making and monitoring.