Assessment of disease progression in dysferlinopathy: A 1-year cohort study.

ABSTRACT: To assess the ability of functional measures to detect disease progression in dysferlinopathy over 6 months and 1 year. One hundred ninety-three patients with dysferlinopathy were recruited to the Jain Foundation's International Clinical Outcome Study for Dysferlinopathy. Baseline, 6-month, and 1-year assessments included adapted North Star Ambulatory Assessment (a-NSAA), Motor Function Measure (MFM-20), timed function tests, 6-minute walk test (6MWT), Brooke scale, Jebsen test, manual muscle testing, and hand-held dynamometry. 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 nonambulant [unable to complete a 10-meter walk])

SUBMITTER: Moore U 

PROVIDER: S-EPMC6369904 | biostudies-literature | 2019 Jan

REPOSITORIES: biostudies-literature