Motor Function and Activity of Daily Life in Spinal Muscular Atrophy

Translation of Motor Function to Daily Activity Performance in Individuals With SMA

This study will incorporate patients/ caregivers' perspectives to investigate the performance in daily activities of individuals with SMA and how it relates to their motor function abilities.

Spinal muscular atrophy (SMA) is an autosomal recessive neuromuscular disease that causes progressive muscle weakness and atrophy and eventually leads to loss of function. Despite recent advances in disease-modifying treatments, SMA can still significantly impact an individual's functioning in daily living and quality of life. This study will incorporate patients/ caregivers' perspectives to investigate the performance in daily activities of individuals with SMA and how it relates to their motor function abilities.

Inclusion Criteria:

• Having a diagnosis of SMA with genetics confirmed as 5q SMA.
• Above 3 years of age (capable of performing motor assessments).

Exclusion Criteria:

• Having severe respiratory and other medical conditions precluding safe participation in standardized motor function tests.
• Having any orthopedic surgery during the past 6 months.
• Women who are pregnant.