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

Holly Borland, 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.
Ursula Moore, 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.
Heather Gordish Dressman, 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.
Anri Human, University of Pretoria, Pretoria, South Africa.
Anna G. Mayhew, 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.
Heather Hilsden, 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.
Laura E. Rufibach, Jain Foundation, Seattle, United States.
Tina Duong, Stanford University, Palo Alto, United States.
Elke Maron, Elan Physio, Berlin, Germany.
Brittney DeWolf, Children's National Health System, Washington, DC, United States.
Kristy Rose, Discipline of Physiotherapy, Faculty of Medicine and Health, University of Sydney and the Sydney Children's Hospitals Network, Sydney, Australia.
Catherine Siener, Washington University School of Medicine, St. Louis, MO, United States.
Simone Thiele, Friedrich Baur Institute, Munich, Germany.
Nieves Sanchez-Aguilera Práxedes, Hospital Universitario Virgen del Rocío, Sevilla, Spain.
Aurélie Canal, Institute of Myology, Paris, France.
Scott Holsten, Carolinas HealthCare System, Charlotte, United States.
Chikako Sakamoto, National Center of Neurology and Psychiatry, Tokyo, Japan.
Irene Pedrosa-Hernández, Hospital de la Santa Creu i Sant Pau, Barcelona, Spain.
Luca Bello, University of Padova, Padova, Italy.
Lindsay N. Alfano, Nationwide Children's Hospital, Abigail Wexner Research Inst., Columbus, OH, United States.
Linda Pax Lowes, Nationwide Children's Hospital, Abigail Wexner Research Inst., Columbus, OH, United States.
Meredith K. James, 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.
Volker Straub, 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.

Document Type

Journal Article

Publication Date

8-14-2024

Journal

Neuromuscular disorders : NMD

Volume

43

DOI

10.1016/j.nmd.2024.08.003

Keywords

Dysferlin; Forced vital capacity; Limb girdle muscular dystrophy; Miyoshi myopathy; Performance of upper limb (PUL); Respiratory function

Abstract

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.

Department

Pediatrics

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