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Lookup NU author(s): Dr Ursula Moore, Dr Anna Mayhew, Heather Hilsden, Dr Hai The Pham, Meredith JamesORCiD, Professor Volker StraubORCiD
This work is licensed under a Creative Commons Attribution 4.0 International License (CC BY 4.0).
© 2024 The Authors. 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.
Author(s): Borland H, Moore U, Dressman HG, Human A, Mayhew AG, Hilsden H, Rufibach LE, Duong T, Maron E, DeWolf B, Rose K, Siener C, Thiele S, Praxedes NS-A, Canal A, Holsten S, Sakamoto C, Pedrosa-Hernandez I, Bello L, Alfano LN, Lowes LP, The Jain COS Consortium, James MK, Straub V
Publication type: Article
Publication status: Published
Journal: Neuromuscular Disorders
Year: 2024
Volume: 43
Pages: 20-28
Print publication date: 01/10/2024
Online publication date: 14/08/2024
Acceptance date: 13/08/2024
Date deposited: 03/09/2024
ISSN (print): 0960-8966
ISSN (electronic): 1873-2364
Publisher: Elsevier Ltd
URL: https://doi.org/10.1016/j.nmd.2024.08.003
DOI: 10.1016/j.nmd.2024.08.003
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