Abstract
Measuring quality of life (QoL) in chronic conditions is complex. However, it is important for guiding management and may be required for approval of new treatments. Here we evaluate the QoL-gNMD neuromuscular quality of life assessment tool in patients with dysferlinopathy. Methods: Twenty genetically confirmed patients with dysferlinopathy were evaluated by trained physiotherapists during the first year of the Jain clinical outcomes study in dysferlinopathy extension study. Assessments included the QoL-gNMD, the ACTIVLIM and the North Star assessment for limb girdle type muscular dystrophy (NSAD).
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