Assessing disease progression in dysferlinopathy

Takeaway

  • Standardized clinical assessments such as the adapted-North Star Ambulatory Assessment (a-NSAA) can effectively measure the progression of dysferlinopathy over a 1-year period particularly in ambulant patients.

Why this matters

  • Defining specific tests for dysferlinopathy progression would aid further research, patient follow-up, and development of clinical trial outcome measures.