Key Functional Milestones Affected by Disease Progression

EP: 1.Describing SMA Progression Over Time

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

EP: 3.Examining the Importance of Early Treatment for SMA

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EP: 4.Key Functional Milestones Affected by Disease Progression

Clinical Brief: Natural Progression and Assessment Challenges in SMA

Main Discussion Topics

• Natural disease progression when SMA is left untreated
• Limitations of standardized assessment tools for adult patients with SMA
• Importance of patient-reported outcomes vs standardized measurements
• Challenges with insurance approvals based on assessment scores

Key Points for Physicians

• Untreated SMA leads to progressive weakness, orthopedic complications, respiratory failure, and shortened life span.
• Assessment tools designed for specific age groups may be inappropriate for evaluating patients outside those groups.
• Adult progression of SMA is slower but continues; disease-modifying therapies may change natural history.
• Patient-reported outcomes regarding daily activities and quality of life are crucial but are often not captured in standardized scales.

Notable Insights

There is a significant disconnect between measurable outcomes on standardized scales and meaningful functional improvements that matter to patients in their daily lives, creating challenges for treatment authorization.

Clinical Significance

Physicians must advocate for treatment based on combined standardized assessments and patient-reported outcomes, recognizing that existing scales may not adequately capture clinically meaningful changes in older patients with SMA.