Describing SMA Progression Over Time

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EP: 1.Describing SMA Progression Over Time

EP: 2.Unmet Needs of Older Patients Living With SMA

Clinical Brief: Treatment Approaches for SMA in Older Patients

Main Discussion Topics

• Introduction to SMA and the expert panel of specialists from neurology, pediatrics, and physical therapy
• Discussion of SMA progression over time, particularly focusing on functional decline in motor neurons and muscle function
• Evolution of SMA classification from traditional types (1 to 4) to more functional categories (nonsitters, sitters, walkers) due to treatment advancements
• The importance of SMN2 copy numbers in determining disease severity and potential functional outcomes

Key Points for Physicians

• SMA is now considered a life span disease with an extended adult phase, especially with newer interventions.
• For older patients, treatment goals focus on slowing functional decline rather than achieving developmental milestones.
• SMN2 copy numbers remain important predictors of maximum function, even with disease-modifying therapies.
• Classification has evolved from types 1 to 4 to functional categories (nonsitters, sitters, walkers) that better reflect treatment outcomes.

Notable Insights

The panel emphasized that disease phenotype is determined by inherent disease characteristics and secondary atrophy from disuse, creating a combined progression pattern that affects treatment approaches.

Clinical Significance

Understanding SMA as a life span condition requiring individualized care based on functional status and SMN2 copy numbers is essential for establishing realistic treatment expectations and goals in older patients.