Assessment of disease progression in dysferlinopathy – a one year cohort study

Objective: To assess the ability of functional measures to detect disease progression in dysferlinopathy over 6 months and 1 year.
Methods: 193 patients with dysferlinopathy were recruited to the Jain Foundation’s International Clinical Outcome Study for Dysferlinopathy. Baseline, 6 months and 1 year assessments included: adapted North Star Assessment (a-NSAA), Motor Function Measure (MFM-20), timed function tests, 6 minute walk test (6MWT), Brooke Scale, Jebsen Test, manual muscle testing (MMT) and hand-held dynamometry (HHD). Patients also completed the ACTIVLIM questionnaire. Change in each measure over 6 months and 1 year was calculated and compared between disease severity (ambulant (mild, moderate or severe based on a-NSAA score) or non-ambulant (unable to complete a 10m walk)) and clinical diagnosis.
Results: The functional a-NSAA test was the most sensitive to deterioration for ambulant patients overall. The a-NSAA score was the most sensitive test in the mild and moderate gro...