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

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  • Additional Information
    • Source:
      Publisher: Pergamon Press Country of Publication: England NLM ID: 9111470 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1873-2364 (Electronic) Linking ISSN: 09608966 NLM ISO Abbreviation: Neuromuscul Disord Subsets: MEDLINE
    • Publication Information:
      Original Publication: Oxford ; New York : Pergamon Press, c1991-
    • Subject Terms:
      Muscular Dystrophies, Limb-Girdle*/physiopathology ; Muscular Dystrophies, Limb-Girdle*/diagnosis ; Muscular Dystrophies, Limb-Girdle*/genetics ; Upper Extremity*/physiopathology; Humans ; Male ; Vital Capacity ; Female ; Adult ; Middle Aged ; Young Adult ; Spirometry ; Dysferlin/genetics ; Respiratory Function Tests ; Aged ; Adolescent
    • 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.
      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.)
    • Contributed Indexing:
      Keywords: Dysferlin; Forced vital capacity; Limb girdle muscular dystrophy; Miyoshi myopathy; Performance of upper limb (PUL); Respiratory function
    • Accession Number:
      0 (Dysferlin)
    • Subject Terms:
      Dysferlinopathy
    • Publication Date:
      Date Created: 20240823 Date Completed: 20240913 Latest Revision: 20240913
    • Publication Date:
      20240914
    • Accession Number:
      10.1016/j.nmd.2024.08.003
    • Accession Number:
      39178649