Journal article
Respiratory function and evaluation in individuals with facioscapulohumeral muscular dystrophy in the Muscular Dystrophy Surveillance, Tracking and Research Network
Neuromuscular disorders : NMD, Vol.46, 105240
01/2025
DOI: 10.1016/j.nmd.2024.105240
PMCID: PMC11911087
PMID: 39579597
Abstract
•Respiratory testing is uncommon in the clinical management of people with FSHD.•Impaired respiratory function was observed among people without known risk factors.•Respiratory insufficiency may be a common complication among people with FSHD.•Regular monitoring of respiratory function for people with FSHD is supported.
Using data from the US population-based, multisite Muscular Dystrophy Surveillance, Tracking, and Research Network (MD STARnet), we describe respiratory testing and insufficiency among people with facioscapulohumeral muscular dystrophy (FSHD) diagnosed during 2008-2016. We calculated frequencies and proportions for selected outpatient respiratory assessments (pulmonary function tests [PFTs], forced vital capacity (FVC), inspiratory/expiratory pressure, and polysomnograms) and abnormal test results. We examined frequencies by disease characteristics (FSHD type, ages of onset, non-ambulatory status, scoliosis, lordosis), obesity, and number of health encounters. Of 170 people with FSHD, 20.0% underwent PFTs during 2008-2016. Polysomnograms were infrequent (14.1%). FVC <80% predicted was recorded for 64.7% of people tested; additional respiratory outcomes were rare (<5%). Frequency of evaluations and respiratory insufficiency were higher among those with known risk factors and longer follow-up. We observed low proportions of respiratory testing among all confirmed cases of FSHD, but relatively high proportions of mild respiratory insufficiency among those tested. The higher proportions of testing among people with conditions that increase risk of respiratory complications suggest targeted monitoring. Broad implementation of the FSHD guidelines recommending all individuals receive baseline respiratory evaluation at diagnosis could identify respiratory insufficiency as a complication of FSHD.
Details
- Title: Subtitle
- Respiratory function and evaluation in individuals with facioscapulohumeral muscular dystrophy in the Muscular Dystrophy Surveillance, Tracking and Research Network
- Creators
- Katherine D Mathews - University of IowaJonathan Suhl - University of IowaKristin M Conway - University of Iowa, EpidemiologyAmy Moore - RTI InternationalJoyce T. Alese - National Center on Birth Defects and Developmental DisabilitiesRussell J Butterfield - University of UtahPaul A Romitti - University of IowaMuscular Dystrophy Surveillance, Tracking and Research Network (MD STARnet)
- Resource Type
- Journal article
- Publication Details
- Neuromuscular disorders : NMD, Vol.46, 105240
- DOI
- 10.1016/j.nmd.2024.105240
- PMID
- 39579597
- PMCID
- PMC11911087
- NLM abbreviation
- Neuromuscul Disord
- ISSN
- 0960-8966
- eISSN
- 1873-2364
- Publisher
- Elsevier B.V; OXFORD
- Grant note
- Centers for Disease Control and Prevention: DD001117, DD001119, DD001123, DD001126, DD001253 University of Utah Huntsman Cancer InstituteNational Cancer Institute: P30 CA2014
This publication was supported by the Cooperative Agreement numbers (data collection: DD001116, DD001117, DD001119, DD001123, and DD001126; data analysis and manuscript preparation: DD001247 and DD001253) funded by the Centers for Disease Control and Prevention. Its contents are solely the responsibility of the authors and do not necessarily represent the official views of the Centers for Diseases Control and Prevention. Partial support for all datasets within the Utah Population Database was provided by the University of Utah Huntsman Cancer Institute and the Huntsman Cancer Institute Cancer Center Support grant, P30 CA2014 from the National Cancer Institute. We also thank the University of Utah Health Sciences Center and Intermountain Health Care.
- Language
- English
- Electronic publication date
- 11/2024
- Date published
- 01/2025
- Academic Unit
- Neurology; Stead Family Department of Pediatrics; Epidemiology; Iowa Neuroscience Institute; Biostatistics; Neurology (Pediatrics)
- Record Identifier
- 9984748257302771
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