Abstract
Dysferlinopathy is a muscular dystrophy with a highly variable functional disease progression in which the relationship of function to some patient reported outcome measures (PROMs) has not been previously reported. This analysis aims to identify the suitability of PROMs and their association with motor performance.Two-hundred and four patients with dysferlinopathy were identified in the Jain Foundation's Clinical Outcome Study in Dysferlinopathy from 14 sites in 8 countries. All patients completed the following PROMs: Individualized Neuromuscular Quality of Life Questionnaire (INQoL), International Physical Activity Questionnaire (IPAQ), and activity limitations for patients with upper and/or lower limb impairments (ACTIVLIMs). In addition, nonambulant patients completed the Egen Klassifikation Scale (EK). Assessments were conducted annually at baseline, years 1, 2, 3, and 4. Data were also collected on the North Star Assessment for Limb Girdle Type Muscular Dystrophies (NSAD) and Performance of Upper Limb (PUL) at these time points from year 2. Data were analyzed using descriptive statistics and Rasch analysis was conducted on ACTIVLIM, EK, INQoL. For associations, graphs (NSAD with ACTIVLIM, IPAQ and INQoL and EK with PUL) were generated from generalized estimating equations (GEE). The ACTIVLIM appeared robust psychometrically and was strongly associated with the NSAD total score (Pseudo R2 0.68). The INQoL performed less well and was poorly associated with the NSAD total score (Pseudo R2 0.18). EK scores were strongly associated with PUL (Pseudo R2 0.69). IPAQ was poorly associated with NSAD scores (Pseudo R2 0.09). This study showed that several of the chosen PROMs demonstrated change over time and a good association with functional outcomes. An alternative quality of life measure and method of collecting data on physical activity may need to be selected for assessing dysferlinopathy.
Highlights
Dysferlinopathy is a rare, autosomal recessive muscular dystrophy caused by mutations in the DYSF gene, which encodes the skeletal muscle protein dysferlin [1, 2]
We examined all patients who completed the following Patient Reported Outcome Measures (PROMs) as appropriate: ACTIVLIM, International Physical Activity Questionnaire (IPAQ), and the Individualized Neuromuscular Quality of Life Questionnaire (INQoL)
Findings from the present study in dysferlinopathy provide useful information on the suitability of four PROMs to capture the patient’s opinion
Summary
Dysferlinopathy is a rare, autosomal recessive muscular dystrophy caused by mutations in the DYSF gene, which encodes the skeletal muscle protein dysferlin [1, 2]. Though onset typically occurs during young adulthood, clinical presentation is inconsistent, with a wide range of ages of onset, patterns of muscle weakness, and severity, despite the fact that most patients share a loss of expression of the dysferlin protein [1, 5–7]. Of key importance to developing appropriately designed clinical trials in this group and to provide support and appropriate management for patients is understanding the natural history of the disease over time, its impact on function, activities of daily living and quality of life. These are generally described as Patient Reported Outcome Measures (PROMs) or Patient Centered Outcome Measures (PCOMs). Some work has gone into examining PROMs in this group over time and has shown the ACTIVLIM to detect change even in a period of 6 months [14], limited work has been done on the other patient measures
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