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

Autor: Borland H; The John Walton Muscular Dystrophy Research Centre, Translational and Clinical Research Institute, Newcastle University and The Newcastle upon Tyne Hospitals NHS Foundation Trust, Newcastle Upon, Tyne, United Kingdom., Moore U; The John Walton Muscular Dystrophy Research Centre, Translational and Clinical Research Institute, Newcastle University and The Newcastle upon Tyne Hospitals NHS Foundation Trust, Newcastle Upon, Tyne, United Kingdom., Dressman HG; Center for Translational Science, Division of Biostatistics and Study Methodology, Children's National Health System, Washington, DC, United States; Pediatrics, Epidemiology and Biostatistics, George Washington University, Washington, DC, United States., Human A; University of Pretoria, Pretoria, South Africa., Mayhew AG; The John Walton Muscular Dystrophy Research Centre, Translational and Clinical Research Institute, Newcastle University and The Newcastle upon Tyne Hospitals NHS Foundation Trust, Newcastle Upon, Tyne, United Kingdom., Hilsden H; The John Walton Muscular Dystrophy Research Centre, Translational and Clinical Research Institute, Newcastle University and The Newcastle upon Tyne Hospitals NHS Foundation Trust, Newcastle Upon, Tyne, United Kingdom., Rufibach LE; Jain Foundation, Seattle, United States., Duong T; Stanford University, Palo Alto, United States., Maron E; Elan Physio, Berlin, Germany., DeWolf B; Children's National Health System, Washington, DC, United States., Rose K; Discipline of Physiotherapy, Faculty of Medicine and Health, University of Sydney and the Sydney Children's Hospitals Network, Sydney, Australia., Siener C; Washington University School of Medicine, St. Louis, MO, United States., Thiele S; Friedrich Baur Institute, Munich, Germany., Práxedes NS; Hospital Universitario Virgen del Rocío, Sevilla, Spain., Canal A; Institute of Myology, Paris, France., Holsten S; Carolinas HealthCare System, Charlotte, United States., Sakamoto C; National Center of Neurology and Psychiatry, Tokyo, Japan., Pedrosa-Hernández I; Hospital de la Santa Creu i Sant Pau, Barcelona, Spain., Bello L; University of Padova, Padova, Italy., Alfano LN; Nationwide Children's Hospital, Abigail Wexner Research Inst., Columbus, OH, United States., Lowes LP The Jain COS Consortium; Nationwide Children's Hospital, Abigail Wexner Research Inst., Columbus, OH, United States., James MK; The John Walton Muscular Dystrophy Research Centre, Translational and Clinical Research Institute, Newcastle University and The Newcastle upon Tyne Hospitals NHS Foundation Trust, Newcastle Upon, Tyne, United Kingdom., Straub V; The John Walton Muscular Dystrophy Research Centre, Translational and Clinical Research Institute, Newcastle University and The Newcastle upon Tyne Hospitals NHS Foundation Trust, Newcastle Upon, Tyne, United Kingdom. Electronic address: volker.straub@newcastle.ac.uk.
Jazyk: angličtina
Zdroj: Neuromuscular disorders : NMD [Neuromuscul Disord] 2024 Oct; Vol. 43, pp. 20-28. Date of Electronic Publication: 2024 Aug 14.
DOI: 10.1016/j.nmd.2024.08.003
Abstrakt: 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.
Competing Interests: Declaration of competing interest Apart from the grant from the Jain Foundation that financed the study, there are no relevant conflicts of interest that impact on the paper referenced above.
(Copyright © 2024 The Authors. Published by Elsevier B.V. All rights reserved.)
Databáze: MEDLINE
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