Performance of upper limb entry item to predict forced vital capacity in dysferlin-deficient limb girdle muscular dystrophy.

• Respiratory impairment is present in up to one-third-of patients with dysferlinopathy. • Spirometry is the gold standard for diagnosis and monitoring of respiratory impairment but is not always easily accessible. • The performance of upper limb (PUL) module is a clinical scale developed for patients with NMD to test upper extremity function. • There is a significant relationship between the PUL entry item and FVC in male and female patients with dysferlinopathy. • Where spirometry equipment is not available, the PUL entry item can be used to identify patients with dysferlinopathy in whom comprehensive respiratory testing is warranted. Dysferlin-deficient limb girdle muscular dystrophy (LGMD R2), also referred to as dysferlinopathy, can be associated with respiratory muscle weakness as the disease progresses. Clinical practice guidelines recommend biennial lung function assessments in patients with dysferlinopathy to screen for respiratory impairment. However, lack of universal access to spirometry equipment and trained specialists makes regular monitoring challenging. This study investigated the use of the Performance of Upper Limb (PUL) clinical scale entry item as a low-cost screening tool to identify patients with dysferlinopathy at risk of respiratory impairment. Using data from 193 patients from the Jain Foundation's International Clinical Outcomes Study, modelling identified a significant positive relationship between the PUL entry item and forced vital capacity (FVC). Eighty-eight percent of patients with the lowest PUL entry item score of 1 presented with FVC % predicted values of <60 %, suggestive of respiratory impairment. By contrast, only 10 % of the remainder of the cohort (PUL entry item of 2 or more) had an FVC of <60 %. This relationship also held true when accounting for ambulatory status, age, and sex as possible confounding factors. In summary, our results suggest that the PUL entry item could be implemented in clinical practice to screen for respiratory impairment where spirometry is not readily available. [ABSTRACT FROM AUTHOR]